Syndrome: A characteristic symptom complex.Down Syndrome: 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)Metabolic Syndrome X: 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)Nephrotic Syndrome: 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.Sjogren's Syndrome: 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.Turner Syndrome: 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.Abnormalities, MultipleMyelodysplastic Syndromes: 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.Cushing Syndrome: 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.Acute Coronary Syndrome: An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.Polycystic Ovary Syndrome: 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.Williams Syndrome: 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.DiGeorge Syndrome: 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.Horner Syndrome: 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)Prader-Willi Syndrome: 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)Long QT Syndrome: 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.Guillain-Barre 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)Hemolytic-Uremic Syndrome: 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.Compartment Syndromes: 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.Tourette Syndrome: 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)Antiphospholipid Syndrome: 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).Porcine Reproductive and Respiratory Syndrome: 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)Klinefelter Syndrome: 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.).Carpal Tunnel Syndrome: 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)Werner Syndrome: 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.Reye Syndrome: 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.Bartter Syndrome: 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.Porcine respiratory and reproductive syndrome virus: A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.HELLP Syndrome: 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.Bloom Syndrome: 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.Brugada Syndrome: 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.Ehlers-Danlos Syndrome: 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.Respiratory Distress Syndrome, Adult: 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.Angelman Syndrome: 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)Pedigree: 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.Severe Acute Respiratory Syndrome: 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.Restless Legs Syndrome: 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.Job Syndrome: 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.Cerumen: The yellow or brown waxy secretions produced by vestigial apocrine sweat glands in the external ear canal.Mutation: 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.Paraneoplastic Syndromes: 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.Sweet Syndrome: 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.Acquired Immunodeficiency Syndrome: 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.Intellectual Disability: 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)Churg-Strauss Syndrome: 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.Sturge-Weber Syndrome: 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.Budd-Chiari Syndrome: 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.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Chediak-Higashi Syndrome: 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.Wolff-Parkinson-White Syndrome: 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.Facies: 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)Kallmann Syndrome: 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.Sick Sinus Syndrome: 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.Stevens-Johnson Syndrome: 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.Sezary Syndrome: 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).Felty Syndrome: A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.Risk Factors: 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.Usher Syndromes: 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.Beckwith-Wiedemann Syndrome: A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.Alagille Syndrome: 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).Treatment Outcome: 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.Bardet-Biedl Syndrome: 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)ACTH Syndrome, Ectopic: Symptom complex due to ACTH production by non-pituitary neoplasms.Peutz-Jeghers Syndrome: 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.Hemorrhagic Fever with Renal Syndrome: 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.Oculocerebrorenal Syndrome: 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)Cockayne Syndrome: 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.Smith-Lemli-Opitz Syndrome: 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.Craniofacial Abnormalities: Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.Wiskott-Aldrich Syndrome Protein: 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.Stiff-Person Syndrome: 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)Short Bowel Syndrome: A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.Behcet Syndrome: 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.Infant, Newborn: An infant during the first month after birth.Zollinger-Ellison Syndrome: 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.Serotonin Syndrome: 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.Hepatopulmonary Syndrome: 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).Orofaciodigital Syndromes: 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.Proteus Syndrome: 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.Duane Retraction Syndrome: 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.Immunologic Deficiency Syndromes: Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.Complex Regional Pain Syndromes: 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)Goldenhar Syndrome: Mandibulofacial dysostosis with congenital eyelid dermoids.Respiratory Distress Syndrome, Newborn: 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.Neuroleptic Malignant Syndrome: 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)Costello Syndrome: 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).Klippel-Feil 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.Subclavian Steal Syndrome: 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)Hantavirus Pulmonary Syndrome: 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.DNA Mutational Analysis: Biochemical identification of mutational changes in a nucleotide sequence.Neoplastic Syndromes, Hereditary: 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.Fatal Outcome: 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.Thoracic Outlet Syndrome: 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).Hermanski-Pudlak Syndrome: Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.Pregnancy: The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.Retrospective Studies: 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.Central Nervous System Neoplasms: Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges.LEOPARD Syndrome: 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.Case-Control Studies: 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.Hand Deformities, Congenital: Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.Eye Abnormalities: Congenital absence of or defects in structures of the eye; may also be hereditary.Li-Fraumeni Syndrome: 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.Hamartoma Syndrome, Multiple: 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.Asperger Syndrome: 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)Mobius Syndrome: 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)Hepatorenal Syndrome: 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.Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing): An enzyme that catalyzes the formation of carbamoyl phosphate from ATP, carbon dioxide, and glutamine. This enzyme is important in the de novo biosynthesis of pyrimidines. EC 126.96.36.199.Systemic Inflammatory Response Syndrome: 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.Sleep Apnea Syndromes: 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.Adie Syndrome: 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)Follow-Up Studies: 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.Polyradiculoneuropathy: 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.Prospective Studies: 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.Ovarian Hyperstimulation Syndrome: 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.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Prevalence: 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.Premenstrual Syndrome: 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.Miller Fisher Syndrome: 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)Capillary Leak Syndrome: 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.Korsakoff Syndrome: 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)Neurocutaneous Syndromes: A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.Gitelman Syndrome: 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.Molecular Sequence Data: 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.Wolfram Syndrome: 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.Mutation, Missense: 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)Disease Models, Animal: 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.Acquired Hyperostosis Syndrome: 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.CREST 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.Wasting 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.Superior Vena Cava Syndrome: 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.SARS Virus: 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.Chromosomes, Human, Pair 22: A specific pair of GROUP G CHROMOSOMES of the human chromosome classification.Munchausen Syndrome: 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.Myasthenic Syndromes, Congenital: 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)Consanguinity: The magnitude of INBREEDING in humans.Poland Syndrome: A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major.Magnetic Resonance Imaging: 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.Biological Markers: 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.Alstrom Syndrome: 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.Rubinstein-Taybi Syndrome: 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).Sudden Infant Death: 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)Hypoplastic Left Heart Syndrome: 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.Romano-Ward Syndrome: 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.Severity of Illness Index: Levels within a diagnostic group which are established by various measurement criteria applied to the seriousness of a patient's disorder.Syndactyly: 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.Microcephaly: 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.)Rothmund-Thomson Syndrome: 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.Dwarfism: 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.Acute Disease: Disease having a short and relatively severe course.Burning Mouth Syndrome: 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.Electrocardiography: 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.Insulin Resistance: 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.Chromosome Deletion: Actual loss of portion of a chromosome.Hypertelorism: Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.Lambert-Eaton Myasthenic Syndrome: 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)Collective Bargaining: The process of negotiation between representatives of an employee organization, association or union, and representatives of the employer.Tumor Lysis Syndrome: 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.Malignant Carcinoid Syndrome: 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)Karyotyping: Mapping of the KARYOTYPE of a cell.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Ectodermal Dysplasia: 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.Obesity: 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).WAGR Syndrome: 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.Smith-Magenis Syndrome: 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.Acrocephalosyndactylia: Congenital craniostenosis with syndactyly.Genotype: The genetic constitution of the individual, comprising the ALLELES present at each GENETIC LOCUS.Sneddon Syndrome: 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, X-Ray Computed: Tomography using x-ray transmission and a computer algorithm to reconstruct the image.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Coloboma: Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.Kearns-Sayre Syndrome: 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)Cri-du-Chat Syndrome: 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-).Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Malabsorption Syndromes: General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients.Cardio-Renal Syndrome: 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).Barth Syndrome: 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.Micrognathism: Abnormally small jaw.Craniosynostoses: 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.Gardner Syndrome: 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.Cogan Syndrome: A condition consisting of inflammatory eye disease usually presenting as interstitial KERATITIS, vestibuloauditory dysfunction, and large- to medium-vessel vasculitis.Bernard-Soulier Syndrome: A familial coagulation disorder characterized by a prolonged bleeding time, unusually large platelets, and impaired prothrombin consumption.Euthyroid Sick Syndromes: 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.Trisomy: The possession of a third chromosome of any one type in an otherwise diploid cell.CHARGE Syndrome: 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.Cohort Studies: 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.Methyl-CpG-Binding Protein 2: 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.Nerve Compression Syndromes: 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.Branchio-Oto-Renal Syndrome: 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)Sotos Syndrome: 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.Pigmentation DisordersGenetic Testing: 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.Staphylococcal Scalded Skin Syndrome: 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.RecQ Helicases: 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.Heart Defects, Congenital: Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life.Chromosome Disorders: 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)Ellis-Van Creveld Syndrome: Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)Prognosis: 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.Brain: 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.Muscle Hypotonia: A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching.Mosaicism: 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.
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)
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 Amelanism Dyschromia Erythrism, unusually red pigmentation Heterochromia ... Tietz, W. (1963). "A Syndrome of Deaf-Mutism Associated with Albinism Showing Dominant Autosomal Inheritance". American Journal ...
"Chediak-Higashi syndrome". Curr. Opin. Hematol. 15 (1): 22-29. doi:10.1097/MOH.0b013e3282f2bcce. PMID 18043242. Retrieved 2014- ... Other rare congenital abnormalities, such as Chédiak-Higashi syndrome, are also associated with defective killing of ingested ...
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 ...
"Chediak-Higashi syndrome". Retrieved 2008-11-06. "Chédiak-Higashi syndrome". Merck Manuals. Retrieved 2008-03-01. "Chediak ... It is often spelled without the accent as Chediak-Higashi syndrome. Griscelli syndrome (also known as "Chédiak-Higashi like ... Chediak-Higashi syndrome (CHS) and Griscelli syndromes (GS)". In Ruggieri M, Pascual-Castroviejo I, Di Rocco C. Neurocutaneous ... ISBN 1-4160-2999-0. Kaplan J, De Domenico I, Ward DM (January 2008). "Chediak-Higashi syndrome". Current Opinion in Hematology ...
Embryonal fyn-associated substrate
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 ...
Griscelli syndrome type 2
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. ... There are three types of Griscelli syndrome. Type 1 is associated with mutations in the MYO5A gene Type 2 is associated with ...
Neutrophil-specific granule deficiency
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, ... "Stormorken syndrome: Confirmatory report in a French family". ashg.org. The American Society of Human Genetics. Retrieved 6 ...
Chediak-Higashi syndrome Waardenburg PJ (September 1951). "A New Syndrome Combining Developmental Anomalies of the Eyelids, ... Vogt's syndrome is named for Cecile Vogt (1875-1962), a French-German neuropathologist. Waardenburg syndrome is named after ... "Waardenburg syndrome". Genetics Home Reference. October 2012. Kumar Sudesh, Rao Kiran (2012). "Waardenburg Syndrome: A Rare ... Type 4 is also known as Waardenburg‐Shah syndrome (association of Waardenburg syndrome with Hirschsprung disease). Type 4 is ...
Baetz K, Isaaz S, Griffiths GM (1995). "Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arises from a ...
Lysosomal trafficking regulator
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 ...
List of MeSH codes (C20)
... chediak-higashi syndrome MeSH C20.673.774.257.270 --- aleutian mink disease MeSH C20.673.774.535 --- granulomatous disease, ... guillain-barre syndrome MeSH C20.111.258.750.400.500 --- miller fisher syndrome MeSH C20.111.258.750.600 --- hereditary sensory ... schnitzler syndrome MeSH C20.683.780.650 --- multiple myeloma MeSH C20.683.780.750 --- poems syndrome MeSH C20.683.780.925 --- ... sezary syndrome MeSH C20.683.515.950 --- tumor lysis syndrome MeSH C20.683.780.250 --- cryoglobulinemia MeSH C20.683.780.490 ...
... 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), ...
List of MeSH codes (C15)
... chediak-higashi syndrome MeSH C15.378.553.774.535 --- granulomatous disease, chronic MeSH C15.378.553.774.600 --- job's ... waterhouse-friderichsen syndrome MeSH C15.378.463.960 --- wiskott-aldrich syndrome MeSH C15.378.553.231 --- eosinophilia MeSH ... sezary syndrome MeSH C15.604.515.880 --- tumor lysis syndrome MeSH C15.604.515.925 --- waldenstrom macroglobulinemia MeSH ... bernard-soulier syndrome MeSH C15.378.100.425.300 --- factor v deficiency MeSH C15.378.100.425.310 --- factor vii deficiency ...
List of OMIM disorder codes
GJB1 CHARGE syndrome; 214800; CHD7 CHARGE syndrome; 214800; SEMA3E Chediak-Higashi syndrome; 214500; CHS1 Cherubism; 118400; ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
List of systemic diseases with ocular manifestations
... 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's 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 ...
List of diseases (C)
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 COFS syndrome Cogan-Reese syndrome Cogan syndrome Cohen-Hayden syndrome Cohen-Lockood-Wyborney syndrome Cohen syndrome ... syndrome type 1 Cockayne syndrome type 2 Cockayne syndrome type 3 Cockayne's syndrome Codas syndrome Codesette syndrome Coeliac ...
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: ...
"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 ...
"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 ... Mutations in this gene are associated with Seckel syndrome and primary autosomal recessive microcephaly, a disorder ... phenocopies Seckel syndrome". PLoS Genetics. 8 (11): e1003022. doi:10.1371/journal.pgen.1003022. PMC 3499256 . PMID 23166506. ...
2002). "The Chediak-Higashi protein interacts with SNARE complex and signal transduction proteins". Mol. Med. 8 (1): 56-64. PMC ... 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 ...
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?
The Chediak-Higashi Syndrome: Studies of Host Defenses | Annals of Internal Medicine | American College of Physicians
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
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 ...
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.. ...
Retired Professor of Pediatrics, Hematology, and Hepatology, Honorary Fellow of American Academy of Pediatrics, Honorary Member of American Pediatric ...
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…
Are you sick of beige project boxes that hide your cool board and hard work? Wouldnt it be cool if your project was case ready from the first revision? The goal of our standard PCB format is to make it super simple to design a project that fits in a bunch of different cool cases. We worked with case designer David Moberly (dsm) to create a case-friendly PCB footprint for all our projects. We call the specification Sick of Beige v1.0. Just drop a Sick of Beige PCB symbol on an Eagle schematic to get a board with nice rounded edges, mounting holes, and recommendations for connector placement. The PCB templates come in two shapes, sized to fit the free version of Eagle and the various inexpensive PCB services. Read on for the full specification, or grab the library and get started with standard boards today. ...
Are you sick of beige project boxes that hide your cool board and hard work? Wouldnt it be cool if your project was case ready from the first revision? The goal of our standard PCB format is to make it super simple to design a project that fits in a bunch of different cool cases. We worked with case designer David Moberly (dsm) to create a case-friendly PCB footprint for all our projects. We call the specification Sick of Beige v1.0. Just drop a Sick of Beige PCB symbol on an Eagle schematic to get a board with nice rounded edges, mounting holes, and recommendations for connector placement. The PCB templates come in two shapes, sized to fit the free version of Eagle and the various inexpensive PCB services. Read on for the full specification, or grab the library and get started with standard boards today. ...
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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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Author Summary Body weight and energy balance are under very complex neural, endocrine, and metabolic control. Correspondingly, recent research suggests that hundreds of genes contribute to human obesity and that only a small proportion of them have as yet been identified. Neurobeachin (Nbea) is a protein specifically expressed in nerve and endocrine cells and is important for neurotransmission, apparently by influencing the synaptic targeting of membrane proteins. Here, we show that heterozygous knockout mice, expressing Nbea at 50% of normal levels, display increased adipose tissue mass, abnormal feeding behavior, and modified expression of specific genes in the brainstem and hypothalamus known to be important for body weight control. Moreover, we find that NBEA gene polymorphisms are associated with body-mass index in adult and juvenile human cohorts. Our results demonstrate that variation of Nbea activity critically affects body weight, presumably by influencing the activity of feeding-related
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Its estimated that about one in every 18,000-20,000 people in the United States have some form of albinism.. There are several different forms. Oculocutaneous albinism (OCA) happens when theres a mutation in one gene. OCA results in white skin, white hair, and blue eyes.. X-linked ocular albinism occurs only in men, and manifests as light-colored skin and hair thats still considered within the "normal" range.. Hermansky-Pudlak syndrome has symptoms similar to OCA, but its more common in Puerto Rico and its usually accompanied by blood, lung, and bowel disorders.. And Chediak-Higashi syndrome is a rare version that gives hair a silver cast and causes skin to be grayish. White blood cell counts are often affected as well, making people with this type more prone to infections.. As for eye color in humans with albinism, the red, pink, or purple appearance can show up when the light is just right. While the eyes themselves can be blue or brown, the lack of pigmentation can make them seem ...
Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci | proLékaře.cz
Using digitally-quantified continuous eye color information, extracted from high-resolution full eye size pictures, we were able to improve the power of finding genetic associations as evident from seeing SNPs in some known eye color genes with more significant association with quantitative than categorical eye color. The gain of power also allowed us to identify 3 new loci, which add substantially to the previously available list of seven genes and provide additional insights into the genetic origins of human pigmentation. Fine-resolution phenotyping may therefore serve as an important alternative strategy for finding genes involved in complex traits to simply increasing sample size, which represents the main trend of current GWA studies in humans.. All SNPs associated with eye color at 1q42.3 are located in the LYST gene. Mutations in the LYST gene are involved in Chediak-Higashi and exfoliation syndromes characterized by iris pigmentation dispersion, transillumination and other defects . ...
People with CHS have light skin and silvery hair (albinism) and frequently complain of solar sensitivity and photophobia. Other signs and symptoms vary considerably, but frequent infections and neuropathy are common. The infections involve mucous membranes, skin, and the respiratory tract. Affected children are susceptible to infection by Gram-positive and gram-negative bacteria and fungi, with Staphylococcus aureus being the most common infection cause. Infections in CHS patients tend to be very serious and even life-threatening. Neuropathy often begins in the teenage years and becomes the most prominent problem. Few patients with this condition live to adulthood.. Most children with Chédiak-Higashi syndrome ultimately reach a stage known as the "accelerated phase", or the "lymphoma-like syndrome", in which defective white blood cells divide uncontrollably and invade many of the bodys organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming ...
Any of the 4 subclasses can be affected but current deficiencies found in IgG 1,2,3. Recurrent pyogenic infections. Many affected are asymptomatic. Associated with IgA deficiency. Significance uncertain ...
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An autosomal recessive disorder characterized by recurrent pyogenic infections, defective neutrophil chemotaxis and bactericidal activity, and lack of neutrophil secondary granule proteins. Neutrophils of affected individuals lack lactoferrin and show abnormal nuclear segmentation, bilobed nuclei, low alkaline phosphatase, and increased number of neutrophil mitochondria and ribosomes ...
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Secondary infection of the skin is the most common complication of AD. Infection can be caused by a variety of bacterial, viral and fungal organisms. The most frequent infections occur with bacterial organisms, most commonly Staphylococcus aureus. As previously stated, some investigators have demonstrated an increased colonization of the skin of patients with AD, with more than 90% of lesions showing colonization in some patients. These organisms gain access to the deeper skin layers because a loss of skin integrity in AD permits secondary infection. Although S. aureus is the most common culprit causing impetiginous lesions, p-hemolytic streptococci are also common. Infected skin lesions may be difficult to detect because of the similarity of appearance of chronic AD and secondary infection. Infected lesions may appear more erythematous, pruritic and crusting with areas of open excoriations. Deep pyogenic infections such as furuncles, abscesses and cellulitis are unusual in AD. Systemic ...
Stem cell markers are genes and their protein products used by scientists to isolate and identify stem cells. Stem cells can also be identified by functional assays. Below is a list of genes/protein products that can be used to identify various types of stem cells, or functional assays that do the same. The initial version of the list below was obtained by mining the PubMed database as described in AA4 AA4.1 P-gp (CD243) ABCB5 ABCG2 (CDw338) ALDH alkaline phosphatase alpha6-integrin Anti-WNT2B monoclonal antibody antithrombin III (AT) asialo GM1 Bcl-2 Beta-galactosidase (β-gal) of ROSA26 mice beta1-integrin bromodeoxyuridine c-kit (CD117) c-Met C1qR(p) END (CD105) PROM1 (CD133) ALCAM (CD166) ITGB1 (CD29) TNFRSF8 (CD30) PECAM-1 (CD31) Siglec-3 (CD33) CD34 CD44 NCAM (CD56) CD73 CD9 CD90 CDCP1 Circulating anticoagulants protein C (PC) CK19 CLV3 cyclic CMP ECMA-7 EDR1 EEC FGF-4 Flk-2 Flk1(+) Flt3/Flk2 FMS (CD115) FORSE-1 G alpha16 GDF3 GFPM Giant granules of beige C57B1/6 (bg) mice Gli2 Gli3 glial ...
A case report of severe liver injury and hemophagocytic syndrome caused by chronic EB virus infection related to a mutation in...
A case report of severe liver injury and hemophagocytic syndrome caused by chronic EB virus infection related to a mutation in the LYST gene., Juan Kang, Weiqun Zeng, Yixuan Yang,
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry |...
This cohort offers new information about the hematological and infectious profiles of WS. Interestingly, besides the constant neutropenia and lymphopenia, all 8 patients present monocytopenia and half of the patients present profound monocytopenia below 0.1 G/L, contrasting with the monocytosis commonly observed in other congenital neutropenias, such as the elastase neutrophil expressed (ELANE) syndrome. Of particular note, susceptibility to mycobacterial infections may be added to the infection spectrum of WS. Considering the monocytopenia and the infectious profile, composed by pyogenic infections, warts and mycobacteria, WS presents certain similarities with the Mono-MAC syndrome, now identified as the consequence of GATA2 mutations[53, 54]. The major phenotypic difference between the two syndromes is the BM myelokathexis feature the WS.. We previously reported, in leukocytes derived from two patients (UPN 5231 and 5446) from pedigree 4 carrying a mutated CXCR4 receptor, that the increased ...
Study of Megakaryocytes From Patients With Abnormal Platelet Vesicles - Full Text View - ClinicalTrials.gov
Congenital bleeding disorders characterized by abnormal platelet granules include Gray Platelet syndrome (GPS; defective alpha-granules), Hermansky-Pudlak syndrome (HPS; defective delta-granules), and combined alpha delta-storage pool deficiency (alpha delta-SPD). Other diseases associated with variable defects in platelet gamma-granules include Chediak-Higashi, Griscelli, Wiskott-Aldrich, and Thrombocytopenia Absent Radius syndromes. These disorders are models for the study of organelle formation in megakaryocytes and platelets. Characteristics of megakaryocytopoiesis in these disorders have not been investigated because megakaryocytes could not be cultured from patients in sufficient quantities for experimental purposes. Recent advances have made it possible to culture megakaryocytes using serum-free media supplemented with recombinant human thrombopoietin (TPO). Such cultured human megakaryocytes, amplified from bone marrow-derived CD34+ stem cells, synthesize and store organellar proteins ...
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Chediak-Higashi syndrome | definition of Chediak-Higashi syndrome by Medical dictionary
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 ...http://medical-dictionary.thefreedictionary.com/Chediak-Higashi+syndrome
Burning mouth syndrome in Parkinson's disease: dopamine as cure or cause?
Burning mouth syndrome has been reported as being more common in Parkinsons disease patients than the general population. ... 24474367 - Chediak-higashi syndrome and premature exfoliation of primary teeth.. 14748647 - Narrative content as described by ... Burning mouth syndrome has also been analogized to restless leg syndrome, a syndrome related to dopaminergic dysfunction . ... Burning mouth syndrome in Parkinsons disease: dopamine as cure or cause? Elizabeth A. CoonAff1. Address: +1-507-5380138 +1-507 ...http://www.biomedsearch.com/nih/Burning-mouth-syndrome-in-Parkinsons/22322657.html
Chediak-Higashi Syndrome | Encyclopedia.com
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 ...https://www.encyclopedia.com/science/encyclopedias-almanacs-transcripts-and-maps/chediak-higashi-syndrome-0
Chediak-Higashi syndrome: MedlinePlus Medical Encyclopedia
Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin. ... Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin. ... 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. Updated July 5, 2018. ...https://medlineplus.gov/ency/article/001312.htm
Chediak-Higashi Syndrome: Practice Essentials, Background, Pathophysiology
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. ...https://emedicine.medscape.com/article/1114607-overview
Chediak-Higashi syndrome (CHS) | Health24
... 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 ...https://www.health24.com/Medical/Digestive-health/Common-digestive-disorders/Chediak-Higashi-syndrome-CHS-20130312
Chediak-Higashi syndrome | Health Encyclopedia | FloridaHealthFinder.gov
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 ...http://www.floridahealthfinder.gov/healthencyclopedia/Health%20Illustrated%20Encyclopedia/1/001312.aspx
Study of Chediak-Higashi Syndrome - Full Text View - ClinicalTrials.gov
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 ...https://www.clinicaltrials.gov/ct2/show/NCT00005917?term=Inherited+Bleeding+Disorder&
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. - PubMed - NCBI
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 ...https://www.ncbi.nlm.nih.gov/pubmed/8896560?dopt=Abstract
Correction: Conference on Chediak-Higashi Syndrome | Annals of Internal Medicine | American College of Physicians
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- ...https://annals.org/aim/article-abstract/686645/correction-conference-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, ...http://www.intelligentdental.com/tag/chediak-higashi-syndrome/
The Chediak-Higashi Syndrome: Studies of Host Defenses | Annals of Internal Medicine | American College of Physicians
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 ...https://annals.org/aim/article-abstract/686159/chediak-higashi-syndrome-studies-host-defenses
Chediak-Higashi Syndrome Global Clinical Trials Review, H1, 2017, Trends, Share, Size Research Report
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 ...https://www.researchmoz.us/chediak-higashi-syndrome-global-clinical-trials-review-h1-2017-report.html
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 ...http://www.psychiatryadvisor.com/hematology/chediak-higashi-syndrome/article/597750/
Chediak-Higashi syndrome - Neurology Advisor
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 ...https://www.neurologyadvisor.com/decision-support-in-medicine/hematology/chediak-higashi-syndrome/
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. ...http://www.lymphedemapeople.com/wiki/doku.php?id=glossary:chediak-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 ...https://www.clinicalpainadvisor.com/hematology/chediak-higashi-syndrome/article/597753/
Abnormal hematopoiesis with lysosomal vesicles and giant granules in Chediak‐Higashi syndrome†
Multimedia Encyclopedia - - Chediak-Higashi syndrome
Chediak-Higashi syndrome. Chediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale- ... 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 ...http://eatonrapidsmedicalcenter.adam.com/content.aspx?productid=117&isarticlelink=false&pid=1&gid=001312
Chediak-steinbrinck-higashi syndrome - Biology-Online Dictionary
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" ...https://www.biology-online.org/dictionary/Chediak-steinbrinck-higashi_syndrome
Oculocutaneous Albinism, Ocular Albinism, Hermansky-Pudlak Syndrome, Chediak-Higashi Syndrome | Asper Biogene
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 ...https://www.asperbio.com/asper-ophthalmics/oculocutaneous-albinism-ocular-albinism-hermansky-pudlak-syndrome-chediak-higashi-syndrome-genetic-testing-NGS-panel
Chediak-Steinbrinck-Higashi syndrome | definition of Chediak-Steinbrinck-Higashi syndrome by Medical dictionary
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 ...https://medical-dictionary.thefreedictionary.com/Chediak-Steinbrinck-Higashi+syndrome
Chediak-Higashi syndrome. Causes, symptoms, treatment Chediak-Higashi syndrome
Treatment Chediak-Higashi syndrome. Symptoms and causes Chediak-Higashi syndrome Prophylaxis Chediak-Higashi syndrome ... Chediak-Higashi Syndrome Association -- www.chediak-higashi.org Outlook (Prognosis). Death often occurs in the first 10 years ... Chediak-Higashi syndrome is rare, inherited disease of the immune and nervous systems characterized by pale-colored hair, eyes ... There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants appear to have been successful in several ...http://dxline.info/diseases/chediak-higashi-syndrome
Chediak-Higashi Syndrome. Read about CHS. Patient | Patient - 51digg.info
Chediak-Higashi Syndrome was described over 50 years ago. ... Chediak-Higashi syndrome (CHS) is inherited as an autosomal ... Chediak-Higashi syndrome is inherited as an autosomal recessive disease. It was described over 50 years ago. Clinical ... Chediak-Higashi Syndrome. Authored by Dr Laurence Knott on 15 October 2009. ... Chediak-Higashi syndrome: abnormal lysosomal enzyme levels in granulocytes of patients and family members. Pediatr Res. 1980 ...http://51digg.info/doctor/chediak-higashi-syndrome
Chediak-Higashi syndrome | Genetic and Rare Diseases Information Center (GARD) - an NCATS Program
... resources and questions answered by our Genetic and Rare Diseases Information Specialists for Chediak-Higashi syndrome ... Chediak Higashi syndrome. Genetics Home Reference. 2008; http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome. Accessed 11 ... Chediak-Higashi syndrome. is a genetic syndrome that affects the immune system. , as well as other parts of the body. Signs and ... ClinicalTrials.gov lists trials that are related to Chediak-Higashi syndrome. Click on the link to go to ClinicalTrials.gov to ...https://phgkb.cdc.gov/PHGKB/phgHome.action?action=forward&dbsource=cluster&id=26633
- Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. (medscape.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)
- 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. (lymphedemapeople.com)
- 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)
- 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)
- Chédiak-Higashi syndrome is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis . (wikipedia.org)
- 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)
- 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. (nih.gov)
- The syndrome is associated with oculocutaneous albinism . (wikipedia.org)
- Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi. (medlineplus.gov)
- Chediak-Higashi syndrome (CHS) is a genetic disorder. (health24.com)
- Genetic counseling is recommended for prospective parents with a family history of Chediak-Higashi. (dxline.info)
- Chediak-Higashi syndrome is a genetic syndrome that affects the immune system , as well as other parts of the body. (cdc.gov)
- Chédiak-Higashi syndrome (CHS) is an autosomal recessive immunodeficiency disorder characterized by abnormal intracellular protein transport. (medscape.com)
- 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)
- Researchers believe that abnormal lysosome-like structures inside blood cell fragments called platelets underlie the abnormal bruising and bleeding seen in people with Chediak-Higashi syndrome. (nih.gov)