A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.
Elements of limited time intervals, contributing to particular results or situations.
The total number of cases of a given disease in a specified population at a designated time. It is differentiated from INCIDENCE, which refers to the number of new cases in the population at a given time.
A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses.
A variant of the GUILLAIN-BARRE SYNDROME characterized by the acute onset of oculomotor dysfunction, ataxia, and loss of deep tendon reflexes with relative sparing of strength in the extremities and trunk. The ataxia is produced by peripheral sensory nerve dysfunction and not by cerebellar injury. Facial weakness and sensory loss may also occur. The process is mediated by autoantibodies directed against a component of myelin found in peripheral nerves. (Adams et al., Principles of Neurology, 6th ed, p1313; Neurology 1987 Sep;37(9):1493-8)
A condition characterized by recurring episodes of fluid leaking from capillaries into extra-vascular compartments causing hematocrit to rise precipitously. If not treated, generalized vascular leak can lead to generalized EDEMA; SHOCK; cardiovascular collapse; and MULTIPLE ORGAN FAILURE.
An acquired cognitive disorder characterized by inattentiveness and the inability to form short term memories. This disorder is frequently associated with chronic ALCOHOLISM; but it may also result from dietary deficiencies; CRANIOCEREBRAL TRAUMA; NEOPLASMS; CEREBROVASCULAR DISORDERS; ENCEPHALITIS; EPILEPSY; and other conditions. (Adams et al., Principles of Neurology, 6th ed, p1139)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
An inherited renal disorder characterized by defective NaCl reabsorption in the convoluted DISTAL KIDNEY TUBULE leading to HYPOKALEMIA. In contrast with BARTTER SYNDROME, Gitelman syndrome includes hypomagnesemia and normocalcemic hypocalciuria, and is caused by mutations in the thiazide-sensitive SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.
A hereditary condition characterized by multiple symptoms including those of DIABETES INSIPIDUS; DIABETES MELLITUS; OPTIC ATROPHY; and DEAFNESS. This syndrome is also known as DIDMOAD (first letter of each word) and is usually associated with VASOPRESSIN deficiency. It is caused by mutations in gene WFS1 encoding wolframin, a 100-kDa transmembrane protein.
A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
Syndrome consisting of SYNOVITIS; ACNE CONGLOBATA; PALMOPLANTAR PUSTULOSIS; HYPEROSTOSIS; and OSTEITIS. The most common site of the disease is the upper anterior chest wall, characterized by predominantly osteosclerotic lesions, hyperostosis, and arthritis of the adjacent joints. The association of sterile inflammatory bone lesions and neutrophilic skin eruptions is indicative of this syndrome.
A mild form of LIMITED SCLERODERMA, a multi-system disorder. Its features include symptoms of CALCINOSIS; RAYNAUD DISEASE; ESOPHAGEAL MOTILITY DISORDERS; sclerodactyly, and TELANGIECTASIS. When the defect in esophageal function is not prominent, it is known as CRST syndrome.
A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism.
A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms.
A species of CORONAVIRUS causing atypical respiratory disease (SEVERE ACUTE RESPIRATORY SYNDROME) in humans. The organism is believed to have first emerged in Guangdong Province, China, in 2002. The natural host is the Chinese horseshoe bat, RHINOLOPHUS sinicus.
A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.
A factitious disorder characterized by habitual presentation for hospital treatment of an apparent acute illness, the patient giving a plausible and dramatic history, all of which is false.
A heterogeneous group of disorders characterized by a congenital defect in neuromuscular transmission at the NEUROMUSCULAR JUNCTION. This includes presynaptic, synaptic, and postsynaptic disorders (that are not of autoimmune origin). The majority of these diseases are caused by mutations of various subunits of the nicotinic acetylcholine receptor (RECEPTORS, NICOTINIC) on the postsynaptic surface of the junction. (From Arch Neurol 1999 Feb;56(2):163-7)
The magnitude of INBREEDING in humans.
A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Measurable and quantifiable biological parameters (e.g., specific enzyme concentration, specific hormone concentration, specific gene phenotype distribution in a population, presence of biological substances) which serve as indices for health- and physiology-related assessments, such as disease risk, psychiatric disorders, environmental exposure and its effects, disease diagnosis, metabolic processes, substance abuse, pregnancy, cell line development, epidemiologic studies, etc.
Rare autosomal recessive disease characterized by multiple organ dysfunction. The key clinical features include retinal degeneration (NYSTAGMUS, PATHOLOGIC; RETINITIS PIGMENTOSA; and eventual blindness), childhood obesity, sensorineural hearing loss, and normal mental development. Endocrinologic complications include TYPE 2 DIABETES MELLITUS; HYPERINSULINEMIA; ACANTHOSIS NIGRICANS; HYPOTHYROIDISM; and progressive renal and hepatic failures. The disease is caused by mutations in the ALMS1 gene.
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
The abrupt and unexplained death of an apparently healthy infant under one year of age, remaining unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of the clinical history. (Pediatr Pathol 1991 Sep-Oct;11(5):677-84)
A condition caused by underdevelopment of the whole left half of the heart. It is characterized by hypoplasia of the left cardiac chambers (HEART ATRIUM; HEART VENTRICLE), the AORTA, the AORTIC VALVE, and the MITRAL VALVE. Severe symptoms appear in early infancy when DUCTUS ARTERIOSUS closes.
A form of long QT syndrome that is without congenital deafness. It is caused by mutation of the KCNQ1 gene which encodes a protein in the VOLTAGE-GATED POTASSIUM CHANNEL.
Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes. Syndactylies are classified as complete or incomplete by the degree of joining. Syndactylies can also be simple or complex. Simple syndactyly indicates joining of only skin or soft tissue; complex syndactyly marks joining of bony elements.
A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Reference for Neuroscience, 2nd ed.)
An autosomal recessive syndrome occurring principally in females, characterized by the presence of reticulated, atrophic, hyperpigmented, telangiectatic cutaneous plaques, often accompanied by juvenile cataracts, saddle nose, congenital bone defects, disturbances in the growth of HAIR; NAILS; and TEETH; and HYPOGONADISM.
A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.
Disease having a short and relatively severe course.
A group of painful oral symptoms associated with a burning or similar sensation. There is usually a significant organic component with a degree of functional overlay; it is not limited to the psychophysiologic group of disorders.
Recording of the moment-to-moment electromotive forces of the HEART as projected onto various sites on the body's surface, delineated as a scalar function of time. The recording is monitored by a tracing on slow moving chart paper or by observing it on a cardioscope, which is a CATHODE RAY TUBE DISPLAY.
Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS.
Actual loss of portion of a chromosome.
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
An autoimmune disease characterized by weakness and fatigability of proximal muscles, particularly of the pelvic girdle, lower extremities, trunk, and shoulder girdle. There is relative sparing of extraocular and bulbar muscles. CARCINOMA, SMALL CELL of the lung is a frequently associated condition, although other malignancies and autoimmune diseases may be associated. Muscular weakness results from impaired impulse transmission at the NEUROMUSCULAR JUNCTION. Presynaptic calcium channel dysfunction leads to a reduced amount of acetylcholine being released in response to stimulation of the nerve. (From Adams et al., Principles of Neurology, 6th ed, pp 1471)
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia.
A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)
Mapping of the KARYOTYPE of a cell.
Genes that influence the PHENOTYPE only in the homozygous state.
An individual having different alleles at one or more loci regarding a specific character.
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm. They are characterized by the presence of abnormalities at birth and involvement of both the epidermis and skin appendages. They are generally nonprogressive and diffuse. Various forms exist, including anhidrotic and hidrotic dysplasias, FOCAL DERMAL HYPOPLASIA, and aplasia cutis congenita.
A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).
A contiguous gene syndrome associated with hemizygous deletions of chromosome region 11p13. The condition is marked by the combination of WILMS TUMOR; ANIRIDIA; GENITOURINARY ABNORMALITIES; and INTELLECTUAL DISABILITY.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.
Congenital craniostenosis with syndactyly.
The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.
A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)
Tomography using x-ray transmission and a computer algorithm to reconstruct the image.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)
An infantile syndrome characterized by a cat-like cry, failure to thrive, microcephaly, MENTAL RETARDATION, spastic quadriparesis, micro- and retrognathia, glossoptosis, bilateral epicanthus, hypertelorism, and tiny external genitalia. It is caused by a deletion of the short arm of chromosome 5 (5p-).
Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.
General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.
Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY).
Rare congenital X-linked disorder of lipid metabolism. Barth syndrome is transmitted in an X-linked recessive pattern. The syndrome is characterized by muscular weakness, growth retardation, DILATED CARDIOMYOPATHY, variable NEUTROPENIA, 3-methylglutaconic aciduria (type II) and decreases in mitochondrial CARDIOLIPIN level. Other biochemical and morphological mitochondrial abnormalities also exist.
Abnormally small jaw.
Premature closure of one or more CRANIAL SUTURES. It often results in plagiocephaly. Craniosynostoses that involve multiple sutures are sometimes associated with congenital syndromes such as ACROCEPHALOSYNDACTYLIA; and CRANIOFACIAL DYSOSTOSIS.
A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.
A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.
A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.
Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased.
The possession of a third chromosome of any one type in an otherwise diploid cell.
Rare disease characterized by COLOBOMA; CHOANAL ATRESIA; and abnormal SEMICIRCULAR CANALS. Mutations in CHD7 protein resulting in disturbed neural crest development are associated with CHARGE Syndrome.
Studies in which subsets of a defined population are identified. These groups may or may not be exposed to factors hypothesized to influence the probability of the occurrence of a particular disease or other outcome. Cohorts are defined populations which, as a whole, are followed in an attempt to determine distinguishing subgroup characteristics.
A DNA-binding protein that interacts with methylated CPG ISLANDS. It plays a role in repressing GENETIC TRANSCRIPTION and is frequently mutated in RETT SYNDROME.
Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect.
An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)
Congenital or postnatal overgrowth syndrome most often in height and occipitofrontal circumference with variable delayed motor and cognitive development. Other associated features include advanced bone age, seizures, NEONATAL JAUNDICE; HYPOTONIA; and SCOLIOSIS. It is also associated with increased risk of developing neoplasms in adulthood. Mutations in the NSD1 protein and its HAPLOINSUFFICIENCY are associated with the syndrome.
Detection of a MUTATION; GENOTYPE; KARYOTYPE; or specific ALLELES associated with genetic traits, heritable diseases, or predisposition to a disease, or that may lead to the disease in descendants. It includes prenatal genetic testing.
A disease of infants due to group 2 phage type 17 staphylococci that produce an epidermolytic exotoxin. Superficial fine vesicles and bullae form and rupture easily, resulting in loss of large sheets of epidermis.
A family of structurally-related DNA helicases that play an essential role in the maintenance of genome integrity. RecQ helicases were originally discovered in E COLI and are highly conserved across both prokaryotic and eukaryotic organisms. Genetic mutations that result in loss of RecQ helicase activity gives rise to disorders that are associated with CANCER predisposition and premature aging.
Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
A prediction of the probable outcome of a disease based on a individual's condition and the usual course of the disease as seen in similar situations.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.
The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.
Congenital structural deformities of the upper and lower extremities collectively or unspecified.

Comparative genomics and host resistance against infectious diseases. (1/160)

The large size and complexity of the human genome have limited the identification and functional characterization of components of the innate immune system that play a critical role in front-line defense against invading microorganisms. However, advances in genome analysis (including the development of comprehensive sets of informative genetic markers, improved physical mapping methods, and novel techniques for transcript identification) have reduced the obstacles to discovery of novel host resistance genes. Study of the genomic organization and content of widely divergent vertebrate species has shown a remarkable degree of evolutionary conservation and enables meaningful cross-species comparison and analysis of newly discovered genes. Application of comparative genomics to host resistance will rapidly expand our understanding of human immune defense by facilitating the translation of knowledge acquired through the study of model organisms. We review the rationale and resources for comparative genomic analysis and describe three examples of host resistance genes successfully identified by this approach.  (+info)

Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation. (2/160)

Cytotoxic T lymphocyte-associated antigen 4 (CTLA-4, also known as CD152) has been shown to play a major role in the regulation of T cell activation. Its membrane expression is highly regulated by endocytosis and trafficking through the secretory lysosome pathway. Chediak-Higashi syndrome (CHS) is an inherited disorder caused by mutations in the lysosomal trafficking regulator gene, LYST. It results in defective membrane targeting of the proteins present in secretory lysosomes, and it is associated with a variety of features, including a lymphoproliferative syndrome with hemophagocytosis. The murine equivalent of CHS, beige mice, present similar characteristics but do not develop the lymphoproliferative syndrome. We show herein that CTLA-4 is present in enlarged, abnormal vesicles in CHS T cells and is not properly expressed at the cell surface after T cell activation, whereas its surface expression is not impaired. It is therefore proposed that the defective surface expression of CTLA-4 by CHS T cells is involved in the generation of lymphoproliferative disease. This observation may provide insight into the role of CTLA-4 in humans.  (+info)

Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1. (3/160)

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder (incidence around 1 in 106 births), characterised by a complex immunologic defects, reduced pigmentation, and presence of giant granules in many different cell types. It most likely results from defective organellar trafficking or protein sorting. The causative gene (LYST) has recently been identified and shown to be homologous to the beige locus in the mouse. CHS has always been reported associated with premature-termination-codon mutations in both alleles of LYST. We report a unique patient with CHS, who was homozygous for a stop codon in the LYST gene on chromosome 1 and who had a normal 46,XY karyotype. The mother was found to be a carrier of the mutation, whereas the father had two normal LYST alleles. Non-paternity was excluded by the analysis of microsatellite markers from different chromosomes. The results of 13 informative microsatellite markers spanning the entire chromosome 1 revealed that the proband had a maternal isodisomy of chromosome 1 encompassing the LYST mutation. The proband's clinical presentation also confirms the absence of imprinted genes on chromosome 1.  (+info)

Cytolytic mechanisms involved in non-MHC-restricted cytotoxicity in Chediak-Higashi syndrome. (4/160)

To determine the mechanisms responsible for the impaired lymphocyte-mediated cytotoxicity in Chediak-Higashi syndrome (CHS), we investigated the killing ability of peripheral blood lymphocytes (PBL) from three patients with CHS using several kinds of target cells that were sensitive to perforin, Fas ligand (FasL), and/or tumour necrosis factor-alpha (TNF-alpha). Freshly isolated CHS PBL did not kill K562 target cells, killing of which by normal PBL was perforin-dependent, as demonstrated by complete inhibition by concanamycin A (CMA), an inhibitor of perforin-based cytotoxicity. In contrast, the CHS PBL exhibited substantial cytotoxicity against Jurkat cells, which was only partially inhibited by CMA treatment but not by the addition of neutralizing anti-FasL or anti-TNF-alpha antibodies. IL-2-activated CHS PBL exhibited substantial levels of cytotoxicity against K562 and Jurkat cells, the levels being 74% and 83% of the respective normal control values, respectively. CMA treatment showed that while the cytotoxicity of IL-2-activated CHS PBL against K562 was largely dependent on perforin, that against Jurkat was largely not. IL-2-activated CHS PBL expressed FasL mRNA, and killed Fas transfectants. These findings indicate that CHS PBL have an ability to kill some target cells via a perforin-mediated pathway, especially when they are activated by IL-2. It was also demonstrated that CHS PBL can exert cytotoxicity against certain target cells by utilizing FasL and an undefined effector molecule other than perforin, FasL, or TNF-alpha.  (+info)

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome. (5/160)

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has made it difficult to screen for mutations in a large number of patients. Only 8 mutations have been identified so far, and all lead to a truncated LYST protein. We conducted protein truncation tests on this gene in 8 patients with CHS. Different LYST mutations were identified in all subjects through this approach, strengthening the observation of a high frequency of truncated LYST proteins as the genetic cause of CHS.  (+info)

The Chediak-Higashi syndrome: quantitation of a deficiency in maximal bactericidal capacity. (6/160)

The maximum bactericidal capacity of neutrophils from a patient with the Chediak-Higashi syndrome (CHS) was measured by a quantitative assay in which the neutrophils were challenged with increasing multiples of Staphylococcus aureus, 502A. At various bacterial challenges from 0.5 to 65 bacteria per neutrophil, the CHS cells killed normal numbers of bacteria in 60 minutes. However, at higher ratios with a mean of 118 bacteria per neutrophil, the percentage of bacteria killed in 60 minutes by CHS neutrophils (8.1 +/- 2.3%) was significantly less (P < 0.001) than that killed by normal neutrophils (44 +/- 2.3%). The CHS neutrophils lagged in their ability to kill low challenges of bacteria (0.5 or 1.2 bacteria per neutrophil) only at 20 minutes. A hydrogen-peroxide-producing strain of Streptococcus faecalis was killed normally by the CHS neutrophils at 60 minutes, with all ratios of challenge up to 114 to 1. Electron microscopic examination of 60-minute specimens from high ratios of challenge that were stained for myeloperoxidase activity revealed a failure of many bacteria-laden phagosomes to display this marker of degranulation. The results of this study indicate that the maximal bactericidal capacity of CHS neutrophils is saturated by a significantly lower challenge of bacteria than is required to saturate normal cells. This appears to be the result of sequestration of a significant portion of these cells' bactericidal resources in the giant granules that do not participate appreciably in degranulation.  (+info)

Mapping of the beige (bg) gene on rat chromosome 17. (7/160)

The rat beige (bg) autosomal recessive gene, causing Chediak-Higashi Syndrome (CHS) in rat, was mapped on Chr 17 by using synteny of rat to mouse and humans. The linkage between the beige gene and PCR-amplified microsatellite markers in (DA-bg x BN)F1 x DA-bg backcross progeny was analysed. The recombination frequency was 9.5% between Prl and Acrm and 19.1% between Acrm and bg. The proposed order of three genes is Prl-Acrm-bg. This rat bg gene was confirmed to be homologus to the beige (bg) gene of mouse located on Chr 13 and the CHS (Lyst) gene of man located on Chr 1 (1q43).  (+info)

Abnormal down-regulation of PKC is responsible for giant granule formation in fibroblasts from CHS (beige) mice--a thiol proteinase inhibitor, E-64-d, prevents giant granule formation in beige fibroblasts. (8/160)

We have previously reported that the abnormally rapid down-regulation of protein kinase C (PKC) activity is responsible for the cellular dysfunction in natural killer (NK) cells and polymorphonuclear leukocytes (PMNs) from Chediak-Higashi syndrome (beige) mice. In this report, we examined whether the down-regulation of PKC is associated with giant granule formation in fibroblasts from beige mice. In cultured beige fibroblasts, the membrane-bound PKC activity declined significantly after phorbol ester stimulation. We found that E-64-d, which is a thiol proteinase inhibitor and protects PKC from calpain-mediated proteolysis, reversed the declined PKC activity and prevented giant granule formation in beige fibroblasts. Moreover, E-64-d corrected the reduced lysosomal elastase and cathepsin G activity in beige fibroblasts. In contrast, specific PKC inhibitors, chelerythrin and calphostin C, promoted giant granule formation in normal fibroblasts. We also demonstrate that ceramide production is enhanced in beige fibroblasts and is involved in the rapid down-regulation of PKC. These results suggest that the accelerated breakdown of PKC observed in beige fibroblasts is caused by enhanced ceramide production and is also responsible for giant granule formation.  (+info)

Looking for online definition of Chediak-Higashi syndrome in the Medical Dictionary? Chediak-Higashi syndrome explanation free. What is Chediak-Higashi syndrome? Meaning of Chediak-Higashi syndrome medical term. What does Chediak-Higashi syndrome mean?
A striking clinical feature of the Chediak-Higashi syndrome (CHS) is a markedly increased susceptibility to pyogenic infections. Recent investigations have documented multiple defects in host defenses in patients with the syndrome. Neutropenia, a characteristic finding, is most likely related to intramedullary destruction of granulocytes. Defective leukocyte migration has been found in vivo by the skin window technique, and a cellular defect in Chemotaxis has been documented in vitro. Although phagocytosis is quantitatively normal, there is a failure in postphagocytic degranulation, as well as diminished intracellular bactericidal capacity, findings that may be related to ineffective delivery of lysosomal contents to the phagocytic vacuole. An abnormal distribution and reduced quantities of lysosomal enzymes have been shown. Some or all of these deficiencies in leukocyte regulation, structure, and function may contribute to the increased susceptibility to bacterial infections. ...
Medical definition of Chediak-Higashi syndrome: a genetic disorder inherited as an autosomal recessive and characterized by partial albinism,…
Chédiak-Higashi syndrome, a rare inherited childhood disease characterized by the inability of white blood cells called phagocytes to destroy invading microorganisms. Persons with Chédiak-Higashi syndrome experience persistent or recurrent infections. Other symptoms associated with the disease
The doctor will perform a physical exam. Examination may show signs of a swollen spleen or liver or jaundice.. A blood smear shows giant granules in the white blood cells. Giant granules are also found in cells from biopsy of skin, muscle, and nerves.. Blood platelet or white blood cell counts are abnormally low. Genetic testing may show mutations in the CHS1 gene.. EEG may show seizures. Brain MRI or CT scan may show small brain due to atrophy.. EMG or nerve conduction velocity testing may show delayed nerve signaling. There may be decreased color (pigmentation) seen in the front and back of the eye.. ...
Chédiak-Higashi syndrome is a rare autosomal recessive disorder that arises from a microtubule polymerization defect which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, partial albinism and peripheral neuropathy. It occurs in humans, cattle, white tigers, blue Persian cats, Australian blue rats, mice, mink, foxes, and the only known captive albino orca. Continue reading →. ...
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Chediak-Higashi syndrome (CHS) is a rare autosomal recessive mutation in the LYST gene. This results in microtubule defects in the cell that causes decreased phagocytosis. The decreased phagocytic activity of the cells in the body leads to recurrent pyogenic infections, skin pigmentation disorders and peripheral neuropathy. Manifestations include neutropenia, oculocutaneous albinism, periodontal disease, and bleeding disorders.. The bleeding disorders are heterogeneous. A study of 8 CHS patients by Al-Sheyyab, et.al. pointed out several mechanisms for the bleeding diathesis in CHS. In one patient, there is abnormal aggregation due to storage pool deficiency (SPD) of ADP and serotonin. In another patient, the aggregation defect resembles that of von Willebrand disease type IIb. Other defects involved the dense bodies and the alpha-granules as well as the platelet membrane.. An avenue of research in the pathophysiology of CHS is therefore opened up by these findings. What are the different ...
Science: syndrome) An autosomal recessive disorder characterised by the presence of giant lysosomal vesicles in phagocytes and in consequence poor bactericidal function due to deficient secretion of myeloperoxidase by lysosomes. there is some perturbation of microtubule dynamics. There are abnormalities of granulation and nuclear structure of all types of leukocytes with malformation of peroxidase-positive granules, cytoplasmic inclusions, and dohle bodies, often with hepatosplenomegaly, lymphadenopathy, anaemia, thrombocytopenia, roentgenologic changes of bones, lungs and heart, skin and psychomotor abnormalities, and susceptibility to infection. The condition usually results in death in childhood, before the age of 10. Reported from humans, albino Hereford cattle, mink, beige mice and killer whale. Compare: chronic granulomatous disease. Inheritance: autosomal recessive. Synonym: beguez cesar disease, chediak-higashi disease, chediak-steinbrinck-higashi anomaly. ...
Tchernev VT, Mansfield TA, Giot L, Kumar AM, Nandabalan K, Li Y, Mishra VS, Detter JC, Rothberg JM, Wallace MR, Southwick FS and Kingsmore SF. CuraGen Corporation, New Haven, CT 06511, USA. [email protected] Background: Chediak-Higashi syndrome (CHS) is an inherited immunodeficiency disease characterized by giant lysosomes and impaired leukocyte degranulation. CHS results from mutations in the lysosomal trafficking regulator (LYST) gene, which encodes a 425-kD cytoplasmic protein of unknown function. The goal of this study was to identify proteins that interact with LYST as a first step in understanding how LYST modulates lysosomal exocytosis.. Fourteen cDNA fragments, covering the entire coding domain of LYST, were used as baits to screen five human cDNA libraries by a yeast two-hybrid method, modified to allow screening in the activation and the binding domain, three selectable markers, and more stringent confirmation procedures. Five of the interactions were confirmed by an in ...
Lung pathology of pale ear mouse (model of Hermansky-Pudlak syndrome 1) and beige mouse (model of Chediak-Higashi syndrome) : Severity of giant lamellar body degeneration of type II pneumocytes correlates with interstitial inflammation (2005 ...
As a Hematologist & Bone Marrow Transplant Surgeon in Delhi, his area of expertise includes Non - Malignant Diseases which Bone Marrow Failure States including Severe Aplastic Anemia, Fanconis Anemia, Paroxysmal Nocturnal Hemoglobinuria (PNH), Pure Red Cell Aplasia/Acquired And Inherited (DBA), Amegakaryocytosis / Congenital Thrombocytopenia, Immunodeficiency states like Severe Combined Immunodeficiency (SCID), Wiskott-Aldrich syndrome, Chediak-Higashi syndrome, Congenital Neutropenia, Hemoglobinopathies like Beta Thalassemia Major, Sickle Cell Disease, Metabolic Disorders like Hurlers Syndrome (MPS-IH), Adrenoleukodystrophy, Metachromatic Leukodystrophy, Gauchers disease, Nieman Picks Disease, Osteopetrosis and Malignant Diseases like Acute Lymphoblastic Leukemia (ALL), Acute Myelogenous Leukemia (AML), Chronic Myelogenous Leukemia (CML), Juvenile Myelomonocytic Leukemia (JMML), Chronic Myelo- Monocytic Leukemia, Chronic Lymphocytic Leukemia, Myelodysplastic Syndrome, Multiple Myeloma, ...
Mixture Burn Candidiasis familial chronic mucocutaneous, autosomal dominant, with thyroid disease - vitiligo Chediak-Higashi Syndrome - partial albinism Anemia Arterial blockage Athletes foot - white teeth on that one.. Any green eco dentists out. The original poster said that was very effective against mold and mildew anywhere-from the shower and then visit your dentist.. ...
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Johan van Dongen and Joel Savage Diseases associated with immune deficiency can be categorized. It involves an immune deficiency or either cellular immunity or hypersensitivity. Human beings, especially with no other deficiency, are susceptible to pyogenic infection. Usually, humans can cope in a normal manner with viral and fungal infections. However, in contrast, a patient…
White JG et al. (1980) The Chédiak-Higashi syndrome; the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates. I. Progressive enlargement of the massive inclusions in mature neutrophils. II. Manifestations of cytoplasmic injury and sequestration. III. Interactions between giant organelles and foreign particulates.. [^] ...
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p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.,/p> ,p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.,/p> ,p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).,/p> ,p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x,sup>64,/sup> + x,sup>4,/sup> + x,sup>3,/sup> + x + 1. The algorithm is described in the ISO 3309 standard. ,/p> ,p class=publication>Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.,br /> ,strong>Cyclic redundancy and other checksums,/strong>,br /> ,a href=http://www.nrbook.com/b/bookcpdf.php>Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993),/a>),/p> Checksum:i ...
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TY - JOUR. T1 - Radiographic evaluation of destructive periodontal disease in blue mink in relation to age and blood morphology. AU - Hammer, Anne Sofie. AU - Andersen, Thomas Holmen. AU - Eriksen, Thomas. AU - Kortegaard, Hanne E.. AU - Dietz, Hans Henrik. AU - Chriél, Mariann. PY - 2005. Y1 - 2005. N2 - In this study, blood samples and jaws were collected from 2 genotypes of blue mink (n = 289) in order to examine phenotypic expression of specific characteristics of Chediak-Higashi Syndrome (C-HS). Blood samples were subjected to differential counts to assess the proportion of abnormal polymorphonuclear leukocytes characteristic for CH-S (C-HS-leukocytes). Abnormal leukocytes with characteristic signs of C-HS were found in blood smears from all mink included in this study. Four teeth in one half of the mandible (P3, P4, M1, M2) were subjected to quantitative radiographic evaluation of alveolar bone loss and tooth loss. There was a high prevalence of destructive periodontal disease among blue ...
Our primary focus over the past 18 years has been on melanosomes of pigmented cells. Melanosomes are unique lysosome-related organelles present only in cells that make melanin, the major synthesized pigment in mammals. Genetic defects in melanosome constituents or in their delivery to nascent melanosomes result in ocular or oculocutaneous albinism, characterized by lack of pigmentation in the eyes and or skin and concomitant visual impairment and susceptibility to skin and ocular cancers. Melanosomes are among a number of tissue-specific lysosome-related organelles that are malformed and dysfunctional in a group of rare heritable disorders, including Hermansky-Pudlak and Chediak-Higashi syndromes, and pigment cell-specific proteins that localize to melanosomes are targets for the immune system in patients with melanoma. In an effort to understand the molecular basis of these diseases, we are dissecting the molecular mechanisms that regulate how different stage melanosomes are formed and ...
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CCR-09-3022 Published 15 July 2010 . Approximately 5 × 106 786-0 or A498 cells were injected into the flanks, and tumors were allowed to . To assess the in vivo efficacy of NVP-BEZ235, nude/beige mice bearing either 786-0 or A498 . The basis for the failure of rapamycin to suppress 4E-BP1 phosphorylation in the. ...
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Kaplan, J.; De Domenico, I.; Ward, D. M. (2008). "Chediak-Higashi syndrome". Current Opinion in Hematology. 15 (1): 22-29. doi: ... In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin ... Albinism-deafness syndrome Marie Antoinette syndrome Dyschromia Erythrism, unusually red pigmentation Heterochromia iridum ... Tietz, W. (1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". American Journal ...
Patients with Chediak-Higashi syndrome (CHS1; MIM 214500) suffer from a systemic immunodeficiency involving defects in ... In mouse, this syndrome is reproduced in strains with a mutation in the 'beige' gene that results in proteins lacking the BEACH ...
Another study has implicated EFS in the Chediak-Higashi syndrome (CHS). This rare and severe autosomal recessive disorder ... Chediak-Higashi syndrome 1), a large protein that regulates the intracellular trafficking of proteins through endosomes that is ...
Stossel TP, Root RK, Vaugan M. Phagocytosis in chronic granulomatous disease and the Chediak-Higashi syndrome. N Engl J Med. ... Functional comparison of Chediak-Higashi syndrome and chronic granulomatous disease leukocytes. Birth defects; original article ... Bone marrow transplantation for a syndrome of neutrophil dysfunction. Exp Hemat. 1977; 5:109-116. 36. Klock JC, Stossel TP. ... Lymphoma with autoimmune neutropenia and hepatic sinusoidal infiltration: a syndrome. Ann Int Med. 1982; 97:202-205. 74. ...
Chediak-Higashi syndrome and "specific" granule deficiency". J. Clin. Invest. 82 (2): 552-6. doi:10.1172/JCI113631. PMC 303547 ...
... with the Chediak-Higashi syndrome". American Journal of Medical Genetics. 35 (3): 373-8. doi:10.1002/ajmg.1320350312. PMID ... He described the multifaceted Stormorken syndrome, a mutations in f. VII, f. IX, Fibrinogen Oslo IV and V, all with clinical ... Stormorken, H; Sjaastad, O; Langslet, A; Sulg, I; Egge, K; Diderichsen, J (November 1985). "A new syndrome: thrombocytopathia, ... Helge Stormorken - Norsk biografisk leksikon "Stormorken syndrome: Confirmatory report in a French family". ashg.org. The ...
Chediak-Higashi syndrome is an autosomal recessive disorder where patients platelets have a deficient amount of dense granules ... A deficiency of CD63 can be associated with Hermansky-Pudlak syndrome. The patients with this disease show signs of abnormal ... is deficient in a patient with Hermansky-Pudlak syndrome, and appears identical to granulophysin". J Clin Invest. 91 (4): 1775- ...
Baetz K, Isaaz S, Griffiths GM (1995). "Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a ...
GeneReviews/NCBI/NIH/UW entry on Chediak-Higashi Syndrome lysosomal+trafficking+regulator+protein,+human at the US National ... Lysosomal trafficking regulator is a vesicular transport protein associated with Chédiak-Higashi syndrome. In melanocytic cells ...
... leukocyte adhesion deficiency syndromes, Papillon-Lefèvre syndrome, Chediak-Higashi syndrome, histiocytosis syndromes, glycogen ... Genetic disorders potentially associated include familial and cyclic neutropenia, Down syndrome, ... storage disease, infantile genetic agranulocytosis, Cohen syndrome, Ehlers-Danlos syndrome (Types IV and VIII), ...
This includes Chediak-Higashi syndrome and Elejalde syndrome (neuroectodermal melanolysosomal disease). This syndrome was first ... Griscelli syndrome type 2 (also known as "partial albinism with immunodeficiency") is a rare autosomal recessive syndrome ... Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nature Genet 25:173-176 v t e. ... There are three types of Griscelli syndrome. Type 1 is associated with mutations in the MYO5A gene Type 2 is associated with ...
It is often spelled without the accent as Chediak-Higashi syndrome.. See also[edit]. *Griscelli syndrome (also known as " ... "Chediak Higashi syndrome". Retrieved 2008-11-06.. *^ Falus A, Fenyo M, Eder K, Madarasi A (September 2011). "[Polarized light ... Chediak-Higashi syndrome (CHS) and Griscelli syndromes (GS)". In Ruggieri M, Pascual-Castroviejo I, Di Rocco C. Neurocutaneous ... "Chediak-Higashi syndrome". Curr. Opin. Hematol. 15 (1): 22-9. PMID 18043242. doi:10.1097/MOH.0b013e3282f2bcce.. ...
... syndrome List of cutaneous conditions Chediak Higashi syndrome Griscelli syndrome Hermansky-Pudlak syndrome Sjogren Larsson ... CEDNIK syndrome is a rare congenital condition that presents as severe developmental failure of the nervous system and the ... "Orphanet: CEDNIK syndrome". www.orpha.net. Retrieved 18 May 2019. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. ( ... ISBN 978-1-4160-2999-1. "Kegg Disease: CEDNIK syndrome". www.genome.jp. Retrieved 2019-11-22. Sprecher, Eli; Ishida-Yamamoto, ...
... chediak-higashi syndrome MeSH C15.378.553.774.535 - granulomatous disease, chronic MeSH C15.378.553.774.600 - job's syndrome ... sezary syndrome MeSH C15.604.515.880 - tumor lysis syndrome MeSH C15.604.515.925 - waldenstrom macroglobulinemia MeSH C15.604. ... waterhouse-friderichsen syndrome MeSH C15.378.463.960 - wiskott-aldrich syndrome MeSH C15.378.553.231 - eosinophilia MeSH ... bernard-soulier syndrome MeSH C15.378.100.425.300 - factor v deficiency MeSH C15.378.100.425.310 - factor vii deficiency MeSH ...
Hypogranular neutrophils or pseudo Chediak-Higashi (large azurophilic granules) Auer rods - automatically RAEB II (if blast ... Myelodysplastic syndrome at Curlie Fenaux, P., et al. (2014). [1] Myelodysplastic syndromes: ESMO Clinical Practice Guidelines ... The disease is restricted to individuals with Down syndrome or genetic changes similar to those in Down syndrome, develops ... "Myelodysplastic Syndromes". NORD (National Organization for Rare Disorders). Retrieved 23 May 2019. "Myelodysplastic Syndromes ...
The protein encoded by this gene contains a beige and Chediak-Higashi (BEACH) domain and multiple WD40 domains, and may play a ... Mutation in this gene have been shown to cause gray platelet syndrome. GRCh38: Ensembl release 89: ENSG00000160796 - Ensembl, ... "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nat. Genet. 43 (8): 735-7. doi:10.1038/ng ... "Exome sequencing identifies NBEAL2 as the causative gene for gray platelet syndrome". Nature Genetics. 43 (8): 735-737. doi: ...
"Chediak-Higashi syndrome"। Current Opinion in Hematology (ENGLISH ভাষায়)। 15 (1): 22-29। আইএসএসএন 1065-6251। ডিওআই:10.1097/moh ... "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance"। American Journal of Human Genetics ...
... and D Whipple's disease Albinism Alkaptonuria Amyloidosis Chediak-Higashi syndrome Cystinosis Fabry's disease Galactosemia ... Patau's syndrome, D-syndrome) Trisomy 18 (Edwards' syndrome, E-syndrome) Trisomy 21 (Down syndrome) Deletion of long arm of ... Cri-du chat syndrome Schmid-Fraccaro syndrome Turner's syndrome Ring-D chromosome Monosomy-G syndrome Trisomy 13 ( ... Apert syndrome Conradi's syndrome Craniofacial syndromes Facial deformity syndromes Muscular dystrophy disorders Myasthenia ...
X-linked CHARGE syndrome Charles' disease Charlie M syndrome Chavany-Brunhes syndrome Chediak-Higashi syndrome Cheilitis ... CCA syndrome Ccge syndrome CCHS CDG syndrome type 1A CDG syndrome type 1B CDG syndrome type 1C CDG syndrome type 2 CDG syndrome ... syndrome Coffin-Siris syndrome COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Gibson syndrome Cohen-Hayden syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...
"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Molecular Medicine. 8 (1): 56-64. ... Lujan-Fryns syndrome and FG syndrome, as well as instances of prostate cancer. Mutations in MED12 are associated with uterine ... "The chromatin-remodeling complex WINAC targets a nuclear receptor to promoters and is impaired in Williams syndrome". Cell. 113 ... "Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3". American Journal of Human Genetics. 69 (4 ...
2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Mol. Med. 8 (1): 56-64. doi ... These disorders include DiGeorge syndrome, velocardiofacial syndrome, conotruncal anomaly face syndrome, and some familial or ... Lindsay EA, Harvey EL, Scambler PJ, Baldini A (1998). "ES2, a gene deleted in DiGeorge syndrome, encodes a nuclear protein and ... "Entrez Gene: DGCR14 DiGeorge syndrome critical region gene 14". Rizzu P, Lindsay EA, Taylor C, et al. (1996). "Cloning and ...
"The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Molecular Medicine. 8 (1): 56-64. ... A more detailed analysis revealed this mutant to model a number of aspects of Seckel syndrome (type 4). The authors concluded ... Al-Dosari MS, Shaheen R, Colak D, Alkuraya FS (Jun 2010). "Novel CENPJ mutation causes Seckel syndrome". Journal of Medical ... Mutations in CENPJ are associated with Seckel syndrome type 4 and primary autosomal recessive microcephaly, a disorder ...
Source for information on Chediak-Higashi Syndrome: Gale Encyclopedia of Genetic Disorders dictionary. ... Chediak-Higashi syndromeDefinitionChediak-Higashi syndrome (CHS) is a very rare disease that affects almost every organ in the ... Chediak-Higashi syndrome. Definition. Chediak-Higashi syndrome (CHS) is a very rare disease that affects almost every organ in ... Based on genetic mapping that was first done in a mouse model of Chediak-Higashi syndrome, a mutated gene found on chromosome ...
Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. Explore symptoms, ... medlineplus.gov/genetics/condition/chediak-higashi-syndrome/ Chediak-Higashi syndrome. ... Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. Thromb Haemost. 2001 ... Chediak-Higashi syndrome is caused by mutations in the LYST gene. This gene provides instructions for making a protein known as ...
Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. ... encoded search term (Chediak-Higashi Syndrome) and Chediak-Higashi Syndrome What to Read Next on Medscape. Related Conditions ... Kanjanapongkul S. Chediak-Higashi syndrome: report of a case with uncommon presentation and review literature. J Med Assoc Thai ... Chediak-Higashi syndrome presenting in accelerated phase: A case report and literature review. Hematol Oncol Stem Cell Ther. ...
Tag: chediak higashi syndrome. Posted on September 6, 2014. January 3, 2016. ...
... also called Begnez-Cesars syndrome, is an inherited immune system disorder that is passed down from parents to their children. ... Chediak-Higashi syndrome (CHS) Chediak-Higashi syndrome (CHS), also called Begnez-Cesars syndrome, is an inherited immune ... Chediak-Higashi syndrome (CHS), also called Begnez-Cesars syndrome, is an inherited immune system disorder that is passed down ... Chediak-Higashi syndrome (CHS) is a genetic disorder. This means a mutated (abnormal) gene is passed down from parents to their ...
Chediak-Higashi syndrome Genetic and Rare Diseases Information Center resources: Albinism Chediak-Higashi Syndrome Platelet ... Syndrome. Chediak-Higashi Syndrome. Pathologic Processes. Albinism. Phagocyte Bactericidal Dysfunction. Immunologic Deficiency ... Study of Chediak-Higashi Syndrome. The safety and scientific validity of this study is the responsibility of the study sponsor ... Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder characterized in its classical form by oculocutaneous ...
Chediak-Higashi syndrome. Definition. Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves ... Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that ... Chediak-Higashi syndrome. Gene Reviews. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751. ... There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants performed early in the disease appear to ...
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome.. Nagle DL1, Karim MA, Woolf EA, ... Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic ...
To the editor: In our Combined Clinical Staff Conference, "The Chediak-Higashi Syndrome: Studies of Host Defenses" in the ... Correction: Conference on Chediak-Higashi Syndrome. Ann Intern Med. 1972;76:1047. doi: https://doi.org/10.7326/0003-4819-76-6- ...
Chediak-steinbrinck-higashi syndrome --, Chediak-Higashi syndrome (Science: syndrome) An autosomal recessive disorder ... Retrieved from "https://www.biology-online.org/dictionary/index.php?title=Chediak-steinbrinck-higashi_syndrome&oldid=28231" ...
What is Chediak-Steinbrinck-Higashi syndrome? Meaning of Chediak-Steinbrinck-Higashi syndrome medical term. What does Chediak- ... Looking for online definition of Chediak-Steinbrinck-Higashi syndrome in the Medical Dictionary? Chediak-Steinbrinck-Higashi ... Chediak-Higashi syndrome. (redirected from Chediak-Steinbrinck-Higashi syndrome) Chédiak-Higashi syndrome. a lethal, ... Chediak-Higashi syndrome. Chediak-Higashi-Steinbrink syndrome, hereditary leukomelanopathy Molecular medicine A rare AR ...
Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial ... Inicio Allergologia et Immunopathologia Chediak-Higashi syndrome: Lessons from a single-centre case series ...
The Chediak-Higashi Syndrome: Studies of Host Defenses SHELDON M. WOLFF, M.D., F.A.C.P.; DAVID C. DALE, M.D.; ROBERT A. CLARK, ... The Chediak-Higashi Syndrome: Studies of Host Defenses. Ann Intern Med. 1972;76:293-306. doi: 10.7326/0003-4819-76-2-293 ... A striking clinical feature of the Chediak-Higashi syndrome (CHS) is a markedly increased susceptibility to pyogenic infections ... Recent investigations have documented multiple defects in host defenses in patients with the syndrome. Neutropenia, a ...
glossary:chediak-higashi_syndrome. (Science: syndrome) An autosomal recessive disorder characterised by the presence of giant ... glossary/chediak-higashi_syndrome.txt · Last modified: 2012/10/16 14:40 (external edit) ... Synonym: beguez cesar disease, chediak-higashi disease, chediak-steinbrinck-higashi anomaly. ...
Chediak-Higashi syndrome (CHS) is characterized by immune deficiency; partial oculocutaneous albinism; a bleeding disorder due ... Chediak-Higashi Syndrome. Known as: Anomaly or syndrome, Chediak-Steinbrinck, BEGUEZ CESAR DISEASE, Granulocyte anomaly or ... Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.. *Wendy J. Introne, Raymond E. Boissy, William A ... Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes.. *Richard K. Root, Alan S. ...
Chediak-Higashi Syndrome Global Clinical Trials Review, H1, 2017 Size and Share Published in 2017-05-31 Available for US$ 2500 ... Chediak-Higashi Syndrome Therapeutics, Global, Clinical Trials In Progress by Top Countries, 2017* 8. Chediak-Higashi Syndrome ... Chediak-Higashi Syndrome Therapeutics, Global, Clinical Trials In Progress by Top Countries, 2017* 8. Chediak-Higashi Syndrome ... Chediak-Higashi Syndrome Therapeutics, G7 Countries, Clinical Trials by Trial Status, 2017* 13. Chediak-Higashi Syndrome ...
Tag Archives: chediak-higashi syndrome. Chediak-Higashi syndrome Leave a reply Chédiak-Higashi syndrome is a rare autosomal ... This entry was posted in Oral medicine and tagged chediak-higashi syndrome, CHS1 gene, lysosomal trafficking regulator, ...
... , Judie Arulappan, Deepa Shaji Thomas, Yaser Ahmed Wali, Sathish Kumar ... Chediak-Higashi syndrome. Curr Opin Hematol 2008; 15: 22-29. *Al-Khenaizan S. Hyperpigmentation in Chediak-Higashi syndrome. J ... Chediak-Higashi syndrome, Genetic disorder, Children.. Introduction. Chediak-Higashi Syndrome (CHS) is a very rare autosomal ... Chédiak-Higashi syndrome (CHS) affects all races [7].. The affected child was an Omani. Symptoms of Chédiak- Higashi syndrome ( ...
Beware of other conditions that can mimic Chediak-Higashi syndrome:. Griscellis syndrome. Griscellis syndrome (GS) is a rare ... Chédiak-Higashi syndrome What every physician needs to know:. Chédiak-Higashi syndrome (CHS) is a rare, autosomal recessive ... Beware of other conditions that can mimic Chediak-Higashi syndrome: * Griscellis syndrome ... Are you sure your patient has Chediak-Higashi syndrome? What should you expect to find?. Patients with CHS usually present with ...
Chediak-Higashi syndromeChediak-Higashi syndrome DiagnosisChediak-Higashi syndrome SignsChediak-Higashi syndrome Symptoms ... Chediak-Higashi syndrome : Symptoms & Signs, Diagnosis & Tests. by March 10, 2011. March 10, 2011. ... Wolff-Parkinson-White syndrome: Symptoms & Signs, Diagnosis & Tests *Cushing syndrome - exogenous : Symptoms & Signs, Diagnosis ... Chediak-Higashi syndrome : Overview, Causes, & Risk Factors *Cri du chat syndrome : Symptoms & Signs, Diagnosis & Tests ...
Chédiak-Higashi syndrome *What every physician needs to know:*Are you sure your patient has Chediak-Higashi syndrome? What ... Beware of other conditions that can mimic Chediak-Higashi syndrome:. Griscellis syndrome. Griscellis syndrome (GS) is a rare ... Beware of other conditions that can mimic Chediak-Higashi syndrome:*Griscellis syndrome*Hermansky-Pudlack syndrome, type II ... will be helpful in making or excluding the diagnosis of Chediak-Higashi syndrome?*If you decide the patient has Chediak-Higashi ...
Clinical correlations in an infant with Chediak-Higashi syndrome",. abstract = "Chediak-Higashi syndrome (CHS) is a rare ... Clinical correlations in an infant with Chediak-Higashi syndrome. Together they form a unique fingerprint. * Chediak-Higashi ... keywords = "BEACH, CHS1, Chediak-Higashi syndrome, LYST, Mutation analysis",. author = "Wafika Zarzour and Robert Kleta and ... N2 - Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable degrees of oculocutaneous ...
What is Chediak-Higashi syndrome? Meaning of Chediak-Higashi syndrome medical term. What does Chediak-Higashi syndrome mean? ... Looking for online definition of Chediak-Higashi syndrome in the Medical Dictionary? Chediak-Higashi syndrome explanation free ... Chediak-Higashi syndrome. Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia.. Related to Chediak-Higashi syndrome: ... Chediak-Higashi syndrome presenting in accelerated phase.. Chediak-Higashi Syndrome: A Report of Three Cases from the North of ...
Diagnosis: Large cytoplasmic granules (inclusion bodies) in all nucleated blood cells, Granules are peroxidase positive Treatment: BMT+/-high dose ascorbic acid+/-interferon. CHLA Board Review 2005. ...
Chediak-Higashi Syndrome testing with next generation sequencing of a multigene panel ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome. NGS panel. Genes. (full. coding ... Additionally, there are also syndromic forms of albinism such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. ... Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome *List of diseases covered by ...
Chediak-Higashi Syndrome/complications , Chediak-Higashi Syndrome/epidemiology , Chediak-Higashi Syndrome/genetics , Chediak- ... Chediak Higashi Syndrome with Recurrent Upper Respiratory Tract Infection. Chediak Higashi Syndrome with Recurrent Upper ... Chediak-Higashi Syndrome / Child, Preschool / Neutropenia Clinical aspect: Etiology / Prognosis Language: English Year: 2014 ... present this case which was diagnosed as respiratory tract infection with neutropenia consistent with Chediak-Higashi syndrome( ...
Chediak-Higashi Syndrome / Adolescent Type of study: Case report Language: English Year: 1990 Type: Article ... Chediak-Higashi Syndrome / Adolescent Type of study: Case report Language: English Year: 1990 Type: Article ... Adolescent , Bone Marrow/pathology , Chediak-Higashi Syndrome/pathology , Humans , Male , Skin/pathology ... A case of Chediak Higashi syndrome. A case of Chediak Higashi syndrome. ...
The Chediak-Higashi syndrome (CHS) is an autosomal, recessive disorder of humans that is caused by mutations in CHS, a ... Abbreviations: CHS, Chediak-Higashi syndrome; YAC, yeast artificial chromosome; Lamp1, lysosomal-associated membrane protein 1 ... Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells. Chau Huynh, Doris Roth, Diane M. Ward ... In addition, the survival of Chediak-Higashi and beige-J fibroblasts after wounding was reduced, indicating that impaired ...
Chediak-Higashi syndrome is a rare genetic disorder that includes neurologic abnormalities, blood issues, oculocutaneous ... Chediak-Higashi syndrome is a rare autosomal recessive genetic disorder caused by mutations in the LYST gene. This means that ... Chediak-Higashi syndrome is a rare autosomal recessive genetic disorder. It arises from an abnormality in the DNA that causes ... The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation. J Invest Dermatol. 1967 Dec;49( ...
  • Chediak-Higashi syndrome is caused by mutations in the LYST gene. (medlineplus.gov)
  • The Chédiak-Higashi syndrome gene was characterized in 1996 as the LYST or CHS1 gene and is localized to bands 1q42-43. (medscape.com)
  • The LYST gene is know to be associated with Chediak-Higashi syndrome (CHS). (asperbio.com)
  • Chediak-Higashi syndrome is a rare autosomal recessive genetic disorder caused by mutations in the LYST gene. (verywellhealth.com)
  • At least 30 mutations in the LYST gene have been identified in people with Chediak-Higashi syndrome. (nih.gov)
  • LYST mutations that cause the severe, childhood form of Chediak-Higashi syndrome typically result in the production of an abnormally short, nonfunctional version of the lysosomal trafficking regulator protein. (nih.gov)
  • Mutations in the CHS1 gene (also called LYST ) have been found to be connected with Chédiak-Higashi Syndrome. (wikipedia.org)
  • In Béguez-Higashi syndrome, the lysosomal trafficking regulator (LYST) gene is mutated, leading to disruption of protein synthesis as well as the storage and secretory function of lysosomal granules in white blood cells. (wikipedia.org)
  • Lysosome-related organelles (LROs) are endosomal compartments carrying tissue-specific proteins, which become enlarged in Chediak-Higashi syndrome (CHS) due to mutations in LYST. (caltech.edu)
  • A case of Chediak Higashi syndrome. (bvsalud.org)
  • It was diagnosed as a case of Chediak-Higashi syndrome. (who.int)
  • People with Chediak-Higashi syndrome will often have many different clinical problems such as recurrent bacterial infections without clear causes, fevers that cannot be explained, severe gingivitis (gum disease), peripheral and cranial neuropathies, vision problems, lack of coordination, weakness, easy bruising, and loss of coloring (hypopigmentation) of the hair, skin and eyes. (encyclopedia.com)
  • As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. (medlineplus.gov)
  • A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. (medlineplus.gov)
  • People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation. (medlineplus.gov)
  • Researchers believe that abnormal lysosome-like structures inside blood cells called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. (medlineplus.gov)
  • People with Chediak-Higashi Syndrome have a white blood-cell defect that makes them susceptible to infections. (copperwiki.org)
  • Hermansky-Pudlak syndrome and Chediak-Higashi syndrome: disorders of vesicle formation and trafficking. (nih.gov)
  • Specifically, the term GHS encloses a rare group of autosomal recessive disorders including Griscelli syndrome (GS), Chediak-Higashi syndrome (CHS), Elejalde syndrome (ES), and Oculocerebral hypopigmentation syndrome, Cross type (OHS). (mdpi.com)
  • Myelodysplastic syndromes are a group of bone marrow stem cell disorders marked by ineffective blood cell production and low counts in the peripheral blood. (medindia.net)
  • Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes. (semanticscholar.org)
  • Mutations in HPS1 (HPS1), AP3B1 (HPS2), HPS3 (HPS3), HPS4 (HPS4), HPS5 (HPS5), HPS6 (HPS6), DTNBP1 (HPS7), BLOC1S3 (HPS8), and BLOC1S6 (HPS9) genes are known to cause different types of Hermansky-Pudlak syndrome (HPS). (asperbio.com)
  • The Chediak-Higashi syndrome (CHS) is an autosomal, recessive disorder of humans that is caused by mutations in CHS, a cytosolic protein of ≈430 kDa. (pnas.org)
  • Costello syndrome is a clinically heterogeneous condition caused by sporadic mutations in HRAS , [ 8 ] in the Ras-mitogen-activated protein kinase (MAPK) pathway. (medscape.com)
  • Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease. (springer.com)
  • Mutations in MITF are known to cause Waardenburg syndrome type 2 and Tietz syndrome, which result in depigmentation and deafness. (wikipedia.org)
  • Talk to your provider if your child shows symptoms of Chediak-Higashi syndrome. (floridahealthfinder.gov)
  • Call for an appointment with your health care provider if your child shows symptoms of Chediak-Higashi syndrome. (dxline.info)
  • By three months of age, an infant with Oculocerebral Syndrome with Hypopigmentation may exhibit symptoms associated with abnormalities of the central nervous system (i.e., affecting parts of the brain and the eyes). (rarediseases.org)
  • These symptoms are associated with Ehlers-Danlos syndrome (EDS). (healthline.com)
  • Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by hypopigmentation, severe immunologic deficiency with neutropenia and lack of natural killer (NK) cells, a bleeding tendency and neurologic abnormalities. (nih.gov)
  • We present this case which was diagnosed as respiratory tract infection with neutropenia consistent with Chediak-Higashi syndrome(CHS), with a brief review of this rare genetic clinical entity. (bvsalud.org)
  • Carlsson G, Aprikyan AA, Tehranchi R, Dale DC, Porwit A, Hellström-Lindberg E. Kostmann syndrome: severe congenital neutropenia associated with defective expression of Bcl-2, constitutive mitochondrial release of cytochrome c, and excessive apoptosis of myeloid progenitor cells. (medscape.com)
  • This syndrome also leads to neutropenia and phagocyte bactericidal dysfunction due to impaired chemotaxis. (wikipedia.org)
  • In cases of Myelodysplastic Syndrome, the blood-forming cells in the bone marrow become abnormal, often leading to Neutropenia (a low number of neutrophils in the blood. (diagnose-me.com)
  • Chédiak-Higashi syndrome [1] is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, [2] which leads to a decrease in phagocytosis . (wikipedia.org)
  • Chédiak, a Cuban hematologist, reported another case in 1952, and, in 1954, Higashi, a Japanese pediatrician, described a series of cases characterized by misdistribution of myeloperoxidase in the neutrophilic granules of affected patients. (medscape.com)
  • Neutrophils , the infection-fighting cells in our body, are not functioning properly in this syndrome due to abnormal granules that affect the ability of the white blood cells to fight infection. (verywellhealth.com)
  • In rare cases such as Chédiak-Higashi syndrome, albinism may be associated with deficiencies in the transportation of melanin granules. (wikipedia.org)
  • Chédiak-Higashi syndrome (CHS) is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. (medscape.com)
  • Abnormal bactericidal, metabolic, and lysosomal functions of Chediak-Higashi Syndrome leukocytes. (semanticscholar.org)
  • Griscelli's syndrome (GS) is a rare autosomal recessive syndrome characterized by pigment dilution of the skin, a silver-gray sheen of the hair with large clumps of hair pigment within the hair shafts, and the accumulation of abnormal and large melanosomes in the center of melanocytes. (psychiatryadvisor.com)
  • Infants with Oculocerebral Syndrome with Hypopigmentation may also have abnormalities of the eyes including abnormal smallness of one or both eyes (microphthalmia). (rarediseases.org)
  • Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. (nih.gov)
  • autosomal recessive inheritance, caused by mutation in the Chediak-Higashi gene ( CHS ) on chromosome 1q. (thefreedictionary.com)
  • Hermansky-Pudlack syndrome (HPS) type II is a rare autosomal recessive syndrome caused by a mutation in the AP3B1 gene, a gene important in the trafficking of proteins to the lysosome. (psychiatryadvisor.com)
  • Journal Article] Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome. (nii.ac.jp)
  • Journal Article] Cytogetics and clinical features of pediatric myelodysplastic syndrome in Japan. (nii.ac.jp)
  • Additionally, there are also syndromic forms of albinism such as Hermansky-Pudlak syndrome and Chediak-Higashi syndrome . (asperbio.com)
  • The Hermansky-Pudlak syndrome and Griscelli's syndrome are similar but distinct conditions. (51digg.info)
  • Chédiak-Higashi syndrome is a rare autosomal recessive disorder that arises from a microtubule polymerization defect which leads to a decrease in phagocytosis. (intelligentdental.com)
  • Diaz GA, Gulino AV. WHIM syndrome: a defect in CXCR4 signaling. (springer.com)
  • Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). (springer.com)
  • Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, although some patients with CHS have a relatively milder clinical course of the disease. (medscape.com)
  • To the editor: In our Combined Clinical Staff Conference, "The Chediak-Higashi Syndrome: Studies of Host Defenses" in the February 1972 issue there was an error that was, unfortunately, overlooked by us. (annals.org)
  • A striking clinical feature of the Chediak-Higashi syndrome (CHS) is a markedly increased susceptibility to pyogenic infections. (annals.org)
  • Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome. (semanticscholar.org)
  • GlobalData's clinical trial report, Chediak-Higashi Syndrome Global Clinical Trials Review, H1, 2017" provides an overview of Chediak-Higashi Syndrome clinical trials scenario. (researchmoz.us)
  • This report provides top line data relating to the clinical trials on Chediak-Higashi Syndrome. (researchmoz.us)
  • Ward DM, Shiflett SL, Kaplan J. Chediak-Higashi syndrome: a clinical and molecular view of a rare lysosomal storage disorder. (nih.gov)
  • Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency). (springer.com)
  • Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival. (mdpi.com)
  • Chediak-Higashi syndrome was named for the two scientists who, in 1957, further detailed the disorder first described by a Cuban doctor in 1943. (encyclopedia.com)
  • If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase. (medlineplus.gov)
  • Chediak-Higashi syndrome is a rare disorder. (medlineplus.gov)
  • Chédiak-Higashi syndrome (CHS) is a rare autosomal recessive lysosomal disorder characterized by frequent infections, oculocutaneous albinism (OCA), bleeding diathesis, and progressive neurologic deterioration. (medscape.com)
  • Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. (medscape.com)
  • Chediak-Higashi syndrome (CHS), also called Begnez-Cesar's syndrome, is an inherited immune system disorder that is passed down from parents to their children. (health24.com)
  • Chediak-Higashi syndrome (CHS) is a genetic disorder. (health24.com)
  • syndrome ) An autosomal recessive disorder characterised by the presence of giant lysosomal vesicles in phagocytes and in consequence poor bactericidal function due to deficient secretion of myeloperoxidase by lysosomes . (biology-online.org)
  • Master "A", 7 years old male child with a rare genetic disorder called Chediak-Higashi syndrome is presented here. (alliedacademies.org)
  • Chediak-Higashi syndrome, Genetic disorder, Children. (alliedacademies.org)
  • Chédiak-Higashi syndrome (CHS) is a rare, autosomal recessive disorder characterized by severe immunodeficiency with frequent bacterial infections, bleeding tendency, decreased pigmentation of hair and eyes (partial albinism), photophobia, nystagmus, progressive neurologic dysfunction, and heightened risk for hemophagocytic histiocytic (HLH) syndrome. (psychiatryadvisor.com)
  • Chediak-Higashi syndrome is a rare autosomal recessive genetic disorder. (verywellhealth.com)
  • Chediak-Higashi syndrome: a rare disorder of lysosomes and lysosome related organelles. (springer.com)
  • Oculocerebral Syndrome with Hypopigmentation is an extremely rare inherited disorder characterized by the lack of normal color (hypopigmentation) of the skin and hair and abnormalities of the central nervous system that affect the eyes and certain parts of the brain (oculocerebral). (rarediseases.org)
  • Oculocerebral Syndrome with Hypopigmentation, also known as Cross Syndrome, is an extremely rare inherited disorder that may be apparent at birth (congenital) or during early infancy. (rarediseases.org)
  • is a rare disorder which is similar to oculocutaneous albinism, however but people with this syndrome also develop bowel and lung diseases and a bleeding disorder. (copperwiki.org)
  • What imaging studies (if any) will be helpful in making or excluding the diagnosis of Chediak-Higashi syndrome? (psychiatryadvisor.com)
  • The diagnosis of Chediak-Higashi is usually suspected in those patients with partial oculocutaneous albinism and recurrent pyogenic infections. (verywellhealth.com)
  • Dental practitioners who notice child patients who present with recurrent unexplained gingivitis and periodontitis along with hypopigmentation of hair, skin and eyes should consider making a referral to medical practitioners to investigate for the possible diagnosis of Chédiak-Higashi syndrome. (wikipedia.org)
  • Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. (elsevier.es)
  • Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. (elsevier.com)
  • The syndrome is associated with oculocutaneous albinism . (wikipedia.org)
  • Menasche G, Fischer A, de Saint Basile G. Griscelli syndrome types 1 and 2. (springer.com)
  • Chediak-Higashi syndrome (CHS) is a very rare disease that affects almost every organ in the body. (encyclopedia.com)
  • Chediak-Higashi is an autosomal recessive disease, which requires both parents to be carriers of altered, or mutated, genes. (encyclopedia.com)
  • Based on genetic mapping that was first done in a mouse model of Chediak-Higashi syndrome, a mutated gene found on chromosome 1q is thought to be the cause of the disease. (encyclopedia.com)
  • Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. (floridahealthfinder.gov)
  • Synonym: beguez cesar disease , chediak-higashi disease, chediak-steinbrinck-higashi anomaly. (lymphedemapeople.com)
  • Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes, and skin. (dxline.info)
  • Chediak-Higashi syndrome is inherited as an autosomal recessive disease. (51digg.info)
  • Chédiak-Higashi syndrome , a rare inherited childhood disease characterized by the inability of white blood cells called phagocytes to destroy invading microorganisms. (britannica.com)
  • Chédiak-Higashi syndrome is inherited in an autosomal recessive manner (meaning that a child must inherit a copy of the gene responsible for the disease from both parents). (britannica.com)
  • Chediak-Higashi and Hermansky-Pudlak syndromes are disease examples. (bmj.com)
  • Patients with Chediak-Higashi Syndrome who meet the following diagnostic criteria and whose disease is ACTIVE but STABLE, or NON-ACTIVE/QUIESCENT as defined in Appendix V of the study protocol. (knowcancer.com)
  • Chediak-Higashi syndrome (CHS) is an inherited primary immunodeficiency with an autosomal recessive pattern which is usually identified by partial albinism and frequent pyogenic infections. (igjournal.ir)
  • Oculocerebral Syndrome with Hypopigmentation is believed to be inherited as an autosomal recessive genetic trait. (rarediseases.org)
  • In addition, infants with Oculocerebral Syndrome with Hypopigmentation may be abnormally sensitive to light (photosensitivity). (rarediseases.org)
  • Children with Oculocerebral Syndrome with Hypopigmentation may also exhibit mental retardation, abnormally slow physical development (growth retardation), a delay in reaching developmental milestones (e.g., holding up their heads, sitting, walking, etc.), and/or a delay in the acquisition of skills requiring the coordination of muscular and mental activity (psychomotor retardation). (rarediseases.org)
  • Here, we investigated the capacity for lysosomal exocytosis and membrane resealing of fibroblasts derived from Chediak-Higashi syndrome (CHS) patients, or from beige-J mice. (pnas.org)
  • By using a sensitive electroporation/fluorescence-activated cell sorter-based assay, we show that lysosomal exocytosis triggered by membrane wounding is impaired in both human Chediak-Higashi and mouse beige-J fibroblasts. (pnas.org)
  • In addition, the survival of Chediak-Higashi and beige-J fibroblasts after wounding was reduced, indicating that impaired lysosomal exocytosis inhibits membrane resealing in these mutant cells. (pnas.org)
  • We propose that the detailed compendium of phenotypes exhibited by the Drosophila rg null mutant provided here will serve as a test bed for dissecting the different functional domains of BEACH (for beige and human Chediak-Higashi syndrome) proteins, such as Rugose, mouse Nbea, or Nbea orthologs in other species, such as human. (jneurosci.org)
  • The name BEACH is derived from BEige And Chediak-Higashi syndrome. (ebi.ac.uk)
  • CHS syndrome leads to early death from infection or hemorrhage. (alliedacademies.org)
  • Chediak Higashi Syndrome with Recurrent Upper Respiratory Tract Infection. (bvsalud.org)
  • Infection is a serious and frequent complication of nephrotic syndrome. (diagnose-me.com)
  • Infections: Patients with Chediak-Higashi syndrome (CHS) are vulnerable to infections because their immune systems are weakened. (health24.com)
  • Confirmed or suspected patients with Chediak-Higashi Syndrome. (clinicaltrials.gov)
  • Recent investigations have documented multiple defects in host defenses in patients with the syndrome. (annals.org)
  • Fibroblasts from clinically normal (GM08148) or CHS syndrome (GM02075A) human patients were obtained from the NIGMS Human Genetic Cell Repository (Bethesda) and used at passages 23 (GM08148) and 22 (GM02075A). (pnas.org)
  • Patients with Viral Associated Hemophagocytic Syndrome (VAHS) - if relapsed after other therapy or supportive care. (knowcancer.com)
  • Granulocyte chemotaxis in the Chediak-Higashi syndrome of mink. (uthscsa.edu)
  • Flow cytometric analyses of lymphoid cell populations reveal that scurfy syndrome is characterized by changes in several phenotypic parameters, including an increase in Mac-1 + cells and a decrease in B220 + cells, changes that may result from the production of extremely high levels of the cytokine granulocyte-macrophage CSF by scurfy T cells. (jimmunol.org)
  • The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins. (nih.gov)
  • Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. (semanticscholar.org)
  • Wiskott-Aldrich syndrome and more. (change.org)
  • Closer biologic examination reveals significant differences between Wiskott-Aldrich syndrome and scurfy, however, and the two loci have been demonstrated to be nonallelic (Jeffery & Brunkow, unpublished data). (jimmunol.org)
  • Higashi, a Japanese pediatrician, described a series of cases in 1954 [ 1 - 3 ]. (alliedacademies.org)
  • Persons with Chédiak-Higashi syndrome experience persistent or recurrent infections. (britannica.com)
  • The child was initially diagnosed to have Chediak-Higashi syndrome with Hemophagocytic lymphohistiocytosis( HLH). (alliedacademies.org)
  • Allogeneic hematopoietic stem cell transplantation (HSCT) represents the only viable cure for children who suffer from a wide variety of rare, serious non-malignant diseases, such as Fanconi Anemia, Hurler syndrome, and hemophagocytic lymphohistiocytosis. (clinicaltrials.gov)
  • Chediak-Higashi silvery hair syndrome. (who.int)
  • They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. (mdpi.com)