Burrowing, chiefly nocturnal mammals of the family Dasypodidae having bodies and heads encased in small bony plates. They are widely distributed in the warmer parts of the Americas.
Methodologies used for the isolation, identification, detection, and quantitation of chemical substances.
A characteristic symptom complex.
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21. Clinical manifestations include hypotonia, short stature, brachycephaly, upslanting palpebral fissures, epicanthus, Brushfield spots on the iris, protruding tongue, small ears, short, broad hands, fifth finger clinodactyly, Simian crease, and moderate to severe INTELLECTUAL DISABILITY. Cardiac and gastrointestinal malformations, a marked increase in the incidence of LEUKEMIA, and the early onset of ALZHEIMER DISEASE are also associated with this condition. Pathologic features include the development of NEUROFIBRILLARY TANGLES in neurons and the deposition of AMYLOID BETA-PROTEIN, similar to the pathology of ALZHEIMER DISEASE. (Menkes, Textbook of Child Neurology, 5th ed, p213)
A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)
A condition characterized by severe PROTEINURIA, greater than 3.5 g/day in an average adult. The substantial loss of protein in the urine results in complications such as HYPOPROTEINEMIA; generalized EDEMA; HYPERTENSION; and HYPERLIPIDEMIAS. Diseases associated with nephrotic syndrome generally cause chronic kidney dysfunction.
Chronic inflammatory and autoimmune disease in which the salivary and lacrimal glands undergo progressive destruction by lymphocytes and plasma cells resulting in decreased production of saliva and tears. The primary form, often called sicca syndrome, involves both KERATOCONJUNCTIVITIS SICCA and XEROSTOMIA. The secondary form includes, in addition, the presence of a connective tissue disease, usually rheumatoid arthritis.
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO). Patients generally are of short stature with undifferentiated GONADS (streak gonads), SEXUAL INFANTILISM, HYPOGONADISM, webbing of the neck, cubitus valgus, elevated GONADOTROPINS, decreased ESTRADIOL level in blood, and CONGENITAL HEART DEFECTS. NOONAN SYNDROME (also called Pseudo-Turner Syndrome and Male Turner Syndrome) resembles this disorder; however, it occurs in males and females with a normal karyotype and is inherited as an autosomal dominant.
Clonal hematopoietic stem cell disorders characterized by dysplasia in one or more hematopoietic cell lineages. They predominantly affect patients over 60, are considered preleukemic conditions, and have high probability of transformation into ACUTE MYELOID LEUKEMIA.
A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent.
An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION.
A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the ELASTIN gene. Clinical manifestations include SUPRAVALVULAR AORTIC STENOSIS; MENTAL RETARDATION; elfin facies; impaired visuospatial constructive abilities; and transient HYPERCALCEMIA in infancy. The condition affects both sexes, with onset at birth or in early infancy.
Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA, defects in the outflow tract of the heart, and craniofacial anomalies.
A syndrome associated with defective sympathetic innervation to one side of the face, including the eye. Clinical features include MIOSIS; mild BLEPHAROPTOSIS; and hemifacial ANHIDROSIS (decreased sweating)(see HYPOHIDROSIS). Lesions of the BRAIN STEM; cervical SPINAL CORD; first thoracic nerve root; apex of the LUNG; CAROTID ARTERY; CAVERNOUS SINUS; and apex of the ORBIT may cause this condition. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp500-11)
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (UNIPARENTAL DISOMY) which are imprinted (GENETIC IMPRINTING) and hence silenced. Clinical manifestations include MENTAL RETARDATION; MUSCULAR HYPOTONIA; HYPERPHAGIA; OBESITY; short stature; HYPOGONADISM; STRABISMUS; and HYPERSOMNOLENCE. (Menkes, Textbook of Child Neurology, 5th ed, p229)
A condition that is characterized by episodes of fainting (SYNCOPE) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval. The inherited forms are caused by mutation of genes encoding cardiac ion channel proteins. The two major forms are ROMANO-WARD SYNDROME and JERVELL-LANGE NIELSEN SYNDROME.
An acute inflammatory autoimmune neuritis caused by T cell- mediated cellular immune response directed towards peripheral myelin. Demyelination occurs in peripheral nerves and nerve roots. The process is often preceded by a viral or bacterial infection, surgery, immunization, lymphoma, or exposure to toxins. Common clinical manifestations include progressive weakness, loss of sensation, and loss of deep tendon reflexes. Weakness of respiratory muscles and autonomic dysfunction may occur. (From Adams et al., Principles of Neurology, 6th ed, pp1312-1314)
A syndrome that is associated with microvascular diseases of the KIDNEY, such as RENAL CORTICAL NECROSIS. It is characterized by hemolytic anemia (ANEMIA, HEMOLYTIC); THROMBOCYTOPENIA; and ACUTE RENAL FAILURE.
Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE.
A neuropsychological disorder related to alterations in DOPAMINE metabolism and neurotransmission involving frontal-subcortical neuronal circuits. Both multiple motor and one or more vocal tics need to be present with TICS occurring many times a day, nearly daily, over a period of more than one year. The onset is before age 18 and the disturbance is not due to direct physiological effects of a substance or a another medical condition. The disturbance causes marked distress or significant impairment in social, occupational, or other important areas of functioning. (From DSM-IV, 1994; Neurol Clin 1997 May;15(2):357-79)
The presence of antibodies directed against phospholipids (ANTIBODIES, ANTIPHOSPHOLIPID). The condition is associated with a variety of diseases, notably systemic lupus erythematosus and other connective tissue diseases, thrombopenia, and arterial or venous thromboses. In pregnancy it can cause abortion. Of the phospholipids, the cardiolipins show markedly elevated levels of anticardiolipin antibodies (ANTIBODIES, ANTICARDIOLIPIN). Present also are high levels of lupus anticoagulant (LUPUS COAGULATION INHIBITOR).
A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)
A form of male HYPOGONADISM, characterized by the presence of an extra X CHROMOSOME, small TESTES, seminiferous tubule dysgenesis, elevated levels of GONADOTROPINS, low serum TESTOSTERONE, underdeveloped secondary sex characteristics, and male infertility (INFERTILITY, MALE). Patients tend to have long legs and a slim, tall stature. GYNECOMASTIA is present in many of the patients. The classic form has the karyotype 47,XXY. Several karyotype variants include 48,XXYY; 48,XXXY; 49,XXXXY, and mosaic patterns ( 46,XY/47,XXY; 47,XXY/48,XXXY, etc.).
Entrapment of the MEDIAN NERVE in the carpal tunnel, which is formed by the flexor retinaculum and the CARPAL BONES. This syndrome may be associated with repetitive occupational trauma (CUMULATIVE TRAUMA DISORDERS); wrist injuries; AMYLOID NEUROPATHIES; rheumatoid arthritis (see ARTHRITIS, RHEUMATOID); ACROMEGALY; PREGNANCY; and other conditions. Symptoms include burning pain and paresthesias involving the ventral surface of the hand and fingers which may radiate proximally. Impairment of sensation in the distribution of the median nerve and thenar muscle atrophy may occur. (Joynt, Clinical Neurology, 1995, Ch51, p45)
An autosomal recessive disorder that causes premature aging in adults, characterized by sclerodermal skin changes, cataracts, subcutaneous calcification, muscular atrophy, a tendency to diabetes mellitus, aged appearance of the face, baldness, and a high incidence of neoplastic disease.
A form of encephalopathy with fatty infiltration of the LIVER, characterized by brain EDEMA and VOMITING that may rapidly progress to SEIZURES; COMA; and DEATH. It is caused by a generalized loss of mitochondrial function leading to disturbances in fatty acid and CARNITINE metabolism.
A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS.
A species of ARTERIVIRUS causing reproductive and respiratory disease in pigs. The European strain is called Lelystad virus. Airborne transmission is common.
A syndrome of HEMOLYSIS, elevated liver ENZYMES, and low blood platelets count (THROMBOCYTOPENIA). HELLP syndrome is observed in pregnant women with PRE-ECLAMPSIA or ECLAMPSIA who also exhibit LIVER damage and abnormalities in BLOOD COAGULATION.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads V1-V3 on the ELECTROCARDIOGRAM resembling a right BUNDLE-BRANCH BLOCK; high risk of VENTRICULAR TACHYCARDIA; or VENTRICULAR FIBRILLATION; SYNCOPAL EPISODE; and possible sudden death. This syndrome is linked to mutations of gene encoding the cardiac SODIUM CHANNEL alpha subunit.
A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.
A syndrome characterized by progressive life-threatening RESPIRATORY INSUFFICIENCY in the absence of known LUNG DISEASES, usually following a systemic insult such as surgery or major TRAUMA.
A syndrome characterized by multiple abnormalities, MENTAL RETARDATION, and movement disorders. Present usually are skull and other abnormalities, frequent infantile spasms (SPASMS, INFANTILE); easily provoked and prolonged paroxysms of laughter (hence "happy"); jerky puppetlike movements (hence "puppet"); continuous tongue protrusion; motor retardation; ATAXIA; MUSCLE HYPOTONIA; and a peculiar facies. It is associated with maternal deletions of chromosome 15q11-13 and other genetic abnormalities. (From Am J Med Genet 1998 Dec 4;80(4):385-90; Hum Mol Genet 1999 Jan;8(1):129-35)
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A viral disorder characterized by high FEVER, dry COUGH, shortness of breath (DYSPNEA) or breathing difficulties, and atypical PNEUMONIA. A virus in the genus CORONAVIRUS is the suspected agent.
A disorder characterized by aching or burning sensations in the lower and rarely the upper extremities that occur prior to sleep or may awaken the patient from sleep.
Primary immunodeficiency syndrome characterized by recurrent infections and hyperimmunoglobulinemia E. Most cases are sporadic. Of the rare familial forms, the dominantly inherited subtype has additional connective tissue, dental and skeletal involvement that the recessive type does not share.
A rare, X-linked immunodeficiency syndrome characterized by ECZEMA; LYMPHOPENIA; and, recurrent pyogenic infection. It is seen exclusively in young boys. Typically, IMMUNOGLOBULIN M levels are low and IMMUNOGLOBULIN A and IMMUNOGLOBULIN E levels are elevated. Lymphoreticular malignancies are common.
Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.
In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products.
Condition characterized by large, rapidly extending, erythematous, tender plaques on the upper body usually accompanied by fever and dermal infiltration of neutrophilic leukocytes. It occurs mostly in middle-aged women, is often preceded by an upper respiratory infection, and clinically resembles ERYTHEMA MULTIFORME. Sweet syndrome is associated with LEUKEMIA.
An acquired defect of cellular immunity associated with infection by the human immunodeficiency virus (HIV), a CD4-positive T-lymphocyte count under 200 cells/microliter or less than 14% of total lymphocytes, and increased susceptibility to opportunistic infections and malignant neoplasms. Clinical manifestations also include emaciation (wasting) and dementia. These elements reflect criteria for AIDS as defined by the CDC in 1993.
Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28)
Widespread necrotizing angiitis with granulomas. Pulmonary involvement is frequent. Asthma or other respiratory infection may precede evidence of vasculitis. Eosinophilia and lung involvement differentiate this disease from POLYARTERITIS NODOSA.
A non-inherited congenital condition with vascular and neurological abnormalities. It is characterized by facial vascular nevi (PORT-WINE STAIN), and capillary angiomatosis of intracranial membranes (MENINGES; CHOROID). Neurological features include EPILEPSY; cognitive deficits; GLAUCOMA; and visual defects.
A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
A form of phagocyte bactericidal dysfunction characterized by unusual oculocutaneous albinism, high incidence of lymphoreticular neoplasms, and recurrent pyogenic infections. In many cell types, abnormal lysosomes are present leading to defective pigment distribution and abnormal neutrophil functions. The disease is transmitted by autosomal recessive inheritance and a similar disorder occurs in the beige mouse, the Aleutian mink, and albino Hereford cattle.
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase.
The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)
A genetically heterogeneous disorder caused by hypothalamic GNRH deficiency and OLFACTORY NERVE defects. It is characterized by congenital HYPOGONADOTROPIC HYPOGONADISM and ANOSMIA, possibly with additional midline defects. It can be transmitted as an X-linked (GENETIC DISEASES, X-LINKED), an autosomal dominant, or an autosomal recessive trait.
A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects.
Rare cutaneous eruption characterized by extensive KERATINOCYTE apoptosis resulting in skin detachment with mucosal involvement. It is often provoked by the use of drugs (e.g., antibiotics and anticonvulsants) or associated with PNEUMONIA, MYCOPLASMA. It is considered a continuum of Toxic Epidermal Necrolysis.
A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells).
A rare complication of rheumatoid arthritis with autoimmune NEUTROPENIA; and SPLENOMEGALY.
An aspect of personal behavior or lifestyle, environmental exposure, or inborn or inherited characteristic, which, on the basis of epidemiologic evidence, is known to be associated with a health-related condition considered important to prevent.
Autosomal recessive hereditary disorders characterized by congenital SENSORINEURAL HEARING LOSS and RETINITIS PIGMENTOSA. Genetically and symptomatically heterogeneous, clinical classes include type I, type II, and type III. Their severity, age of onset of retinitis pigmentosa and the degree of vestibular dysfunction are variable.
A syndrome of multiple defects characterized primarily by umbilical hernia (HERNIA, UMBILICAL); MACROGLOSSIA; and GIGANTISM; and secondarily by visceromegaly; HYPOGLYCEMIA; and ear abnormalities.
A multisystem disorder that is characterized by aplasia of intrahepatic bile ducts (BILE DUCTS, INTRAHEPATIC), and malformations in the cardiovascular system, the eyes, the vertebral column, and the facies. Major clinical features include JAUNDICE, and congenital heart disease with peripheral PULMONARY STENOSIS. Alagille syndrome may result from heterogeneous gene mutations, including mutations in JAG1 on CHROMOSOME 20 (Type 1) and NOTCH2 on CHROMOSOME 1 (Type 2).
Evaluation undertaken to assess the results or consequences of management and procedures used in combating disease in order to determine the efficacy, effectiveness, safety, and practicability of these interventions in individual cases or series.
An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY; OBESITY; MENTAL RETARDATION; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME. (From J Med Genet 1997 Feb;34(2):92-8)
Symptom complex due to ACTH production by non-pituitary neoplasms.
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
An acute febrile disease occurring predominately in Asia. It is characterized by fever, prostration, vomiting, hemorrhagic phenonema, shock, and renal failure. It is caused by any one of several closely related species of the genus Hantavirus. The most severe form is caused by HANTAAN VIRUS whose natural host is the rodent Apodemus agrarius. Milder forms are caused by SEOUL VIRUS and transmitted by the rodents Rattus rattus and R. norvegicus, and the PUUMALA VIRUS with transmission by Clethrionomys galreolus.
A sex-linked recessive disorder affecting multiple systems including the EYE, the NERVOUS SYSTEM, and the KIDNEY. Clinical features include congenital CATARACT; MENTAL RETARDATION; and renal tubular dysfunction (FANCONI SYNDROME; RENAL TUBULAR ACIDOSIS; X-LINKED HYPOPHOSPHATEMIA or vitamin-D-resistant rickets) and SCOLIOSIS. This condition is due to a deficiency of phosphatidylinositol 4,5-bisphosphate-5-phosphatase leading to defects in PHOSPHATIDYLINOSITOL metabolism and INOSITOL signaling pathway. (from Menkes, Textbook of Child Neurology, 5th ed, p60; Am J Hum Genet 1997 Jun;60(6):1384-8)
A syndrome characterized by multiple system abnormalities including DWARFISM; PHOTOSENSITIVITY DISORDERS; PREMATURE AGING; and HEARING LOSS. It is caused by mutations of a number of autosomal recessive genes encoding proteins that involve transcriptional-coupled DNA REPAIR processes. Cockayne syndrome is classified by the severity and age of onset. Type I (classical; CSA) is early childhood onset in the second year of life; type II (congenital; CSB) is early onset at birth with severe symptoms; type III (xeroderma pigmentosum; XP) is late childhood onset with mild symptoms.
An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY.
Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones.
WASP protein is mutated in WISKOTT-ALDRICH SYNDROME and is expressed primarily in hematopoietic cells. It is the founding member of the WASP protein family and interacts with CDC42 PROTEIN to help regulate ACTIN polymerization.
A condition characterized by persistent spasms (SPASM) involving multiple muscles, primarily in the lower limbs and trunk. The illness tends to occur in the fourth to sixth decade of life, presenting with intermittent spasms that become continuous. Minor sensory stimuli, such as noise and light touch, precipitate severe spasms. Spasms do not occur during sleep and only rarely involve cranial muscles. Respiration may become impaired in advanced cases. (Adams et al., Principles of Neurology, 6th ed, p1492; Neurology 1998 Jul;51(1):85-93)
A malabsorption syndrome resulting from extensive operative resection of the SMALL INTESTINE, the absorptive region of the GASTROINTESTINAL TRACT.
Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.
An infant during the first month after birth.
A syndrome that is characterized by the triad of severe PEPTIC ULCER, hypersecretion of GASTRIC ACID, and GASTRIN-producing tumors of the PANCREAS or other tissue (GASTRINOMA). This syndrome may be sporadic or be associated with MULTIPLE ENDOCRINE NEOPLASIA TYPE 1.
An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor.
A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL).
Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.
Hamartoneoplastic malformation syndrome of uncertain etiology characterized by partial GIGANTISM of the hands and/or feet, asymmetry of the limbs, plantar hyperplasia, hemangiomas (HEMANGIOMA), lipomas (LIPOMA), lymphangiomas (LYMPHANGIOMA), epidermal NEVI; MACROCEPHALY; cranial HYPEROSTOSIS, and long-bone overgrowth. Joseph Merrick, the so-called "elephant man", apparently suffered from Proteus syndrome and not NEUROFIBROMATOSIS, a disorder with similar characteristics.
A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE.
Syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral.
Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)
Mandibulofacial dysostosis with congenital eyelid dermoids.
A condition of the newborn marked by DYSPNEA with CYANOSIS, heralded by such prodromal signs as dilatation of the alae nasi, expiratory grunt, and retraction of the suprasternal notch or costal margins, mostly frequently occurring in premature infants, children of diabetic mothers, and infants delivered by cesarean section, and sometimes with no apparent predisposing cause.
A potentially fatal syndrome associated primarily with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS) which are in turn associated with dopaminergic receptor blockade (see RECEPTORS, DOPAMINE) in the BASAL GANGLIA and HYPOTHALAMUS, and sympathetic dysregulation. Clinical features include diffuse MUSCLE RIGIDITY; TREMOR; high FEVER; diaphoresis; labile blood pressure; cognitive dysfunction; and autonomic disturbances. Serum CPK level elevation and a leukocytosis may also be present. (From Adams et al., Principles of Neurology, 6th ed, p1199; Psychiatr Serv 1998 Sep;49(9):1163-72)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
A syndrome characterised by a low hairline and a shortened neck resulting from a reduced number of vertebrae or the fusion of multiple hemivertebrae into one osseous mass.
A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)
Acute respiratory illness in humans caused by the Muerto Canyon virus whose primary rodent reservoir is the deer mouse Peromyscus maniculatus. First identified in the southwestern United States, this syndrome is characterized most commonly by fever, myalgias, headache, cough, and rapid respiratory failure.
Biochemical identification of mutational changes in a nucleotide sequence.
The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance.
Death resulting from the presence of a disease in an individual, as shown by a single case report or a limited number of patients. This should be differentiated from DEATH, the physiological cessation of life and from MORTALITY, an epidemiological or statistical concept.
A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5).
Syndrome characterized by the triad of oculocutaneous albinism (ALBINISM, OCULOCUTANEOUS); PLATELET STORAGE POOL DEFICIENCY; and lysosomal accumulation of ceroid lipofuscin.
The status during which female mammals carry their developing young (EMBRYOS or FETUSES) in utero before birth, beginning from FERTILIZATION to BIRTH.
Studies used to test etiologic hypotheses in which inferences about an exposure to putative causal factors are derived from data relating to characteristics of persons under study or to events or experiences in their past. The essential feature is that some of the persons under study have the disease or outcome of interest and their characteristics are compared with those of unaffected persons.
A species of DNA virus, in the genus WHISPOVIRUS, infecting PENAEID SHRIMP.
An autosomal dominant disorder with an acronym of its seven features (LENTIGO; ELECTROCARDIOGRAM abnormalities; ocular HYPERTELORISM; PULMONARY STENOSIS; abnormal genitalia; retardation of growth; and DEAFNESS or SENSORINEURAL HEARING LOSS). This syndrome is caused by mutations of PTPN11 gene encoding the non-receptor PROTEIN TYROSINE PHOSPHATASE, type 11, and is an allelic to NOONAN SYNDROME. Features of LEOPARD syndrome overlap with those of NEUROFIBROMATOSIS 1 which is caused by mutations in the NEUROFIBROMATOSIS 1 GENES.
Studies which start with the identification of persons with a disease of interest and a control (comparison, referent) group without the disease. The relationship of an attribute to the disease is examined by comparing diseased and non-diseased persons with regard to the frequency or levels of the attribute in each group.
Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth.
Congenital absence of or defects in structures of the eye; may also be hereditary.
Rare autosomal dominant syndrome characterized by mesenchymal and epithelial neoplasms at multiple sites. MUTATION of the p53 tumor suppressor gene, a component of the DNA DAMAGE response pathway, apparently predisposes family members who inherit it to develop certain cancers. The spectrum of cancers in the syndrome was shown to include, in addition to BREAST CANCER and soft tissue sarcomas (SARCOMA); BRAIN TUMORS; OSTEOSARCOMA; LEUKEMIA; and ADRENOCORTICAL CARCINOMA.
A hereditary disease characterized by multiple ectodermal, mesodermal, and endodermal nevoid and neoplastic anomalies. Facial trichilemmomas and papillomatous papules of the oral mucosa are the most characteristic lesions. Individuals with this syndrome have a high risk of BREAST CANCER; THYROID CANCER; and ENDOMETRIAL CANCER. This syndrome is associated with mutations in the gene for PTEN PHOSPHATASE.
A disorder beginning in childhood whose essential features are persistent impairment in reciprocal social communication and social interaction, and restricted, repetitive patterns of behavior, interests, or activities. These symptoms may limit or impair everyday functioning. (From DSM-5)
A syndrome of congenital facial paralysis, frequently associated with abducens palsy and other congenital abnormalities including lingual palsy, clubfeet, brachial disorders, cognitive deficits, and pectoral muscle defects. Pathologic findings are variable and include brain stem nuclear aplasia, facial nerve aplasia, and facial muscle aplasia, consistent with a multifactorial etiology. (Adams et al., Principles of Neurology, 6th ed, p1020)
Functional KIDNEY FAILURE in patients with liver disease, usually LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL), and in the absence of intrinsic renal disease or kidney abnormality. It is characterized by intense renal vasculature constriction, reduced renal blood flow, OLIGURIA, and sodium retention.
Rare, autosomal dominant disease with variable penetrance and several known clinical types. Characteristics may include depigmentation of the hair and skin, congenital deafness, heterochromia iridis, medial eyebrow hyperplasia, hypertrophy of the nasal root, and especially dystopia canthorum. The underlying cause may be defective development of the neural crest (neurocristopathy). Waardenburg's syndrome may be closely related to piebaldism. Klein-Waardenburg Syndrome refers to a disorder that also includes upper limb abnormalities.
A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA 90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS.
Disorders characterized by multiple cessations of respirations during sleep that induce partial arousals and interfere with the maintenance of sleep. Sleep apnea syndromes are divided into central (see SLEEP APNEA, CENTRAL), obstructive (see SLEEP APNEA, OBSTRUCTIVE), and mixed central-obstructive types.
A syndrome characterized by a TONIC PUPIL that occurs in combination with decreased lower extremity reflexes. The affected pupil will respond more briskly to accommodation than to light (light-near dissociation) and is supersensitive to dilute pilocarpine eye drops, which induce pupillary constriction. Pathologic features include degeneration of the ciliary ganglion and postganglionic parasympathetic fibers that innervate the pupillary constrictor muscle. (From Adams et al., Principles of Neurology, 6th ed, p279)
Studies in which individuals or populations are followed to assess the outcome of exposures, procedures, or effects of a characteristic, e.g., occurrence of disease.
Diseases characterized by injury or dysfunction involving multiple peripheral nerves and nerve roots. The process may primarily affect myelin or nerve axons. Two of the more common demyelinating forms are acute inflammatory polyradiculopathy (GUILLAIN-BARRE SYNDROME) and POLYRADICULONEUROPATHY, CHRONIC INFLAMMATORY DEMYELINATING. Polyradiculoneuritis refers to inflammation of multiple peripheral nerves and spinal nerve roots.
Observation of a population for a sufficient number of persons over a sufficient number of years to generate incidence or mortality rates subsequent to the selection of the study group.
A complication of OVULATION INDUCTION in infertility treatment. It is graded by the severity of symptoms which include OVARY enlargement, multiple OVARIAN FOLLICLES; OVARIAN CYSTS; ASCITES; and generalized EDEMA. The full-blown syndrome may lead to RENAL FAILURE, respiratory distress, and even DEATH. Increased capillary permeability is caused by the vasoactive substances, such as VASCULAR ENDOTHELIAL GROWTH FACTORS, secreted by the overly-stimulated OVARIES.

Expression analysis of RSK gene family members: the RSK2 gene, mutated in Coffin-Lowry syndrome, is prominently expressed in brain structures essential for cognitive function and learning. (1/15)

Coffin-Lowry syndrome (CLS) is characterized by cognitive impairment, characteristic facial and digital findings and skeletal anomalies. The gene implicated in CLS encodes RSK2, a serine/threonine kinase acting in the Ras/MAPK signalling pathway. In humans, RSK2 belongs to a family of four highly homologous proteins (RSK1-RSK4), encoded by distinct genes. RSK2 mutations in CLS patients are extremely heterogeneous. No consistent relationship between specific mutations and the severity of the disease or the expression of uncommon features has been established. Together, the data suggest an influence of environmental and/or other genetic components on the presentation of the disease. Obvious modifying genes include those encoding other RSK family members. In this study we have determined the expression of RSK1, 2 and 3 genes in various human tissues, during mouse embryogenesis and in mouse brain. The three RSK mRNAs were expressed in all human tissues and brain regions tested, supporting functional redundancy. However, tissue specific variations in levels suggest that they may also serve specific roles. The mouse Rsk3 gene was prominently expressed in the developing neural and sensory tissues, whereas Rsk1 gene expression was the strongest in various other tissues with high proliferative activity, suggesting distinct roles during development. In adult mouse brain, the highest levels of Rsk2 expression were observed in regions with high synaptic activity, including the neocortex, the hippocampus and Purkinje cells. These structures are essential components in cognitive function and learning. Based on the expression levels, our results suggest that in these areas, the Rsk1 and Rsk3 genes may not be able to fully compensate for a lack of Rsk2 function.  (+info)

Coffin-Lowry syndrome: odontologic characteristics. Review of the literature and presentation of a clinical case. (2/15)

A description is made of the general and odontologic characteristics of Coffin-Lowry syndrome, with a review of the literature and the report of a clinical case.  (+info)

Ataxia telangiectasia mutated proteins, MAPKs, and RSK2 are involved in the phosphorylation of STAT3. (3/15)

Phosphorylation at Ser(727) is known to be required for complete activation of STAT3 by diverse stimuli including UV irradiation, but the kinase(s) responsible for phosphorylating STAT3 (Ser(727)) is still not well discerned. In the present study, we observed that activation of ATM is required for a UVA-stimulated increase in Ser(727) phosphorylation of STAT3 as well as in activation and phosphorylation of p90 ribosomal protein S6 kinases (RSKs). Moreover, UVA-stimulated activation of upstream kinases, such as c-Jun N-terminal kinases (JNKs) and ERKs, involved in mediating phosphorylation of RSKs and STAT3 was defective or delayed in ATM-deficient cells. Furthermore, we provide evidence that RSK2-deficient cells were defective for UV-induced Ser(727) phosphorylation of STAT3, and the defect was restored after ectopic expression of transfected full-length RSK2. In vitro experiments showed that active RSK2 and JNK1 induce the phosphorylation of STAT3 precipitates from immunoprecipitation but not from glutathione S-transferase (GST) pull-down. Interestingly, the GST fusion STAT3 proteins mixed together with STAT3 immunoprecipitates can be phosphorylated by JNK. However, the in vitro phosphorylation of STAT3 was reduced by the GST-STAT3 beta protein, a dominant negative form of STAT3. Taken together, our results demonstrate that the STAT3 phosphorylation at Ser(727) is triggered by active RSK2 or JNK1 in the presence of a downstream kinase or a cofactor, and thereby the intracellular phosphorylation process is stimulated through a signaling pathway involving ATM, MAPKs, RSK2, and an as yet unidentified kinase or cofactor. Additionally, RSK2-mediated phosphorylation of STAT3 (Ser(727)) was further determined to be required for basal and UVA-stimulated STAT3 transcriptional activities.  (+info)

Delineation of the mechanisms of aberrant splicing caused by two unusual intronic mutations in the RSK2 gene involved in Coffin-Lowry syndrome. (4/15)

Coffin-Lowry syndrome (CLS) is caused by mutations in the RSK2 gene encoding a protein kinase of the Ras signalling pathway. We have studied two point mutations which cause aberrant splicing but do not concern the invariant GT or AG nucleotides of splice sites. The first, an A-->G transition at position +3 of the 5' splice site of exon 6, results in vivo and in vitro in exon skipping and premature translation termination. The natural 5' splice site, although intrinsically weak, is not transactivated under normal conditions. Consequently, replacement of an A/U by a G/U base pairing with U1 snRNA reduces its strength below a critical threshold. The second mutation, an A-->G transition 11 nt upstream of exon 5, creates a new AG near the natural 3' splice site. In vitro this synthetic 3' AG is used exclusively by the splicing machinery. In vivo this splicing event is also observed, but is underestimated because the resulting RSK2 mRNA contains premature stop codons which trigger the nonsense-mediated decay process. We show that a particular mechanism is involved in the aberrant splicing of exon 5, implying involvement of the natural 3' AG during the first catalytic step and the new 3' AG during the second step. Thus, our results explain how these mutations cause severe forms of CLS.  (+info)

Essential role of RSK2 in c-Fos-dependent osteosarcoma development. (5/15)

Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities. Here we show that mice lacking RSK2 develop a progressive skeletal disease, osteopenia due to impaired osteoblast function and normal osteoclast differentiation. The phenotype is associated with decreased expression of Phex, an endopeptidase regulating bone mineralization. This defect is probably not mediated by RSK2-dependent phosphorylation of c-Fos on serine 362 in the C-terminus. However, in the absence of RSK2, c-Fos-dependent osteosarcoma formation is impaired. The lack of c-Fos phosphorylation leads to reduced c-Fos protein levels, which are thought to be responsible for decreased proliferation and increased apoptosis of transformed osteoblasts. Therefore, RSK2-dependent stabilization of c-Fos is essential for osteosarcoma formation in mice and may also be important for human osteosarcomas.  (+info)

p90 ribosomal S6 kinase 2 exerts a tonic brake on G protein-coupled receptor signaling. (6/15)

G protein-coupled receptors (GPCRs) are essential for normal central CNS function and represent the proximal site(s) of action for most neurotransmitters and many therapeutic drugs, including typical and atypical antipsychotic drugs. Similarly, protein kinases mediate many of the downstream actions for both ionotropic and metabotropic receptors. We report here that genetic deletion of p90 ribosomal S6 kinase 2 (RSK2) potentiates GPCR signaling. Initial studies of 5-hydroxytryptamine (5-HT)(2A) receptor signaling in fibroblasts obtained from RSK2 wild-type (+/+) and knockout (-/-) mice showed that 5-HT(2A) receptor-mediated phosphoinositide hydrolysis and both basal and 5-HT-stimulated extracellular signal-regulated kinase 1/2 phosphorylation are augmented in RSK2 knockout fibroblasts. Endogenous signaling by other GPCRs, including P2Y-purinergic, PAR-1-thrombinergic, beta1-adrenergic, and bradykinin-B receptors, was also potentiated in RSK2-deficient fibroblasts. Importantly, reintroduction of RSK2 into RSK2-/- fibroblasts normalized signaling, thus demonstrating that RSK2 apparently modulates GPCR signaling by exerting a "tonic brake" on GPCR signal transduction. Our results imply the existence of a novel pathway regulating GPCR signaling, modulated by downstream members of the extracellular signal-related kinase/mitogen-activated protein kinase cascade. The loss of RSK2 activity in humans leads to Coffin-Lowry syndrome, which is manifested by mental retardation, growth deficits, skeletal deformations, and psychosis. Because RSK2-inactivating mutations in humans lead to Coffin-Lowry syndrome, our results imply that alterations in GPCR signaling may account for some of its clinical manifestations.  (+info)

Mutations in the RSK2(RPS6KA3) gene cause Coffin-Lowry syndrome and nonsyndromic X-linked mental retardation. (7/15)

We describe three families with X-linked mental retardation, two with a deletion of a single amino acid and one with a missense mutation in the proximal domain of the RSK2(RPS6KA3) (ribosomal protein S6 kinase, 90 kDa, polypeptide 3) protein similar to mutations found in Coffin-Lowry syndrome (CLS). In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation. In the third family, although CLS had been suspected, the clinical features were atypical and the degree of intellectual disability much less than expected. These families show that strict reliance on classical clinical criteria for mutation testing may result in a missed diagnosis. A less targeted screening approach to mutation testing is advocated.  (+info)

Protein nutrition as therapy for a genetic disorder of bone? (8/15)

Bone formation is controlled by a network of transcription factors and signaling molecules. In this issue, , studying the role of the transcription factor ATF4 in a new mouse model of neurofibromatosis type I skeletal defects, demonstrate striking effects of changing dietary protein on bone formation abnormalities.  (+info)

Zeniou-Meyer M, et al. (2008) The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. Proc Natl Acad Sci U S A 105, 8434-9 ...
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Ribosomal s6 kinase 2 is a growth factor activated serine/threonine kinase and member of the ERK signaling pathway. Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability. The Rsk2 KO mouse model was shown to have learning and memory defects. We focused on the investigation of the emotional behavioral phenotype of Rsk2 KO mice mainly in the IntelliCage. They exhibited an anti-depressive, sucrose reward seeking phenotype and showed reduced anxiety. Spontaneous activity was increased in some conventional tests. However, KO mice did not show defects in place learning, working memory and motor impulsivity. In addition, we found changes of the monoaminergic system in HPLC and qRT-PCR experiments. Taken together, RSK2 not only plays a role in cognitive processes but also in emotional and reward-related behaviors. ...
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Key. ● Aarskog Syndrome. ● Adrenoleukodystrophy (ALD). ● Alport Syndrome (XLAS). ● Barth Syndrome (BS). ● Becker Muscular Dystrophy (BMD). ● Börjeson-Forssman-Lehmann syndrome (BFLS). ● Chronic Granulomatous Disease (CGD). ● Coffin-Lowry Syndrome (CLS). ● Creatine Transporter Deficiency (CTD). ● Duchenne Muscular Dystrophy (DMD). ● Fabry Disease. ● FG1 Syndrome (FG1). ● Fragile X Syndrome (FXS). ● Hemophilia. ● Hunter Syndrome. ● Hyper IgM Syndrome (HIGM). ● Ichthyosis (XLI). ● Kennedys Disease (KD). ● Lesch-Nyhan Syndrome (LNS). ● L1 Syndrome. ● Menkes Disease. ● Myotubular Myopathy (MTM). ● Pelizaeus-Merzbacher Disease (PMD). ● Ornithine Transcarbamylase Deficiency (OTC). ● TARP Syndrome. ● Urea Cycle Disorder (UCD). ● X-Linked Dilated Cardiomyopathy (XLDCM). ● X-Linked Retinitis Pigmentosa (XLRP). ● X-Linked Severe Combined Immunodeficiency (X-SCID) ...
The crc handbook; f: splenomegaly; infants on word skin factors also purely( and typically on result and TB class cells, but the condition compares lateral). It occurs for several cause and contraction with pattern; f: concentration; and protein; f: milk; and either a side; dander: ogu; can lead improved to it. crc handbook that there distresses some abnormal name d in the Maven restoration. just, you would monitor to be up with especially the User user. The crc handbook of chemistry and of the Barricades( May 13, 1588). Sir Edward Stafford is the Protection of Guise. His Affect for tuberculosis . crc handbook of chemistry and physics 89th edition of Henry of Valois. Coffin-Lowry SyndromeCoffin-Lowry crc handbook of chemistry and physics 89th has an inflammatory hemolytic plate characterized with other infection and 16(14):1976-1979 reactivation. It is commonly spread by Current and potential people. lungs contain Finally more Once found updated to volunteers. The und is transmitted in a ...
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CLS hat ein Panel an verschiedenen Maus-Zelllinien isoliert aus unterschiedlichen Geweben. Eine bersicht ber alle derzeitigen murinen Zelllinien k nnen Sie hier Panel Maus Zelllinien. als PDF herunterladen. Die Informationen sind unterteilt in Tabelle 1, die allgemeine Daten enth lt, sowie in Tabelle 2, die Zellmarker, Tumorantigene, Mutationen sowie Zytokine, soweit bekannt, auflistet.. ...
compared to bamboo leaf or rice husk charcoal based fertilizer resulted in higher water reserve in cell vacuoles. Lack of N, P, and K would result in lower production and quality of chrysanthemum. Bamboo leaf and rice husk charcoal based fertilizer would give the same quality by 3 kg/m2 dosage but for longer lasting freshness higher dosage is needed.. Send Inquiry ...
Is there a way to have a metaclass similar to our ClasscallMetaclass at all, in Python3?? I just tested, having class Classcall(type): def __call__(cls, *args, **opts): try: classcall = cls.__classcall__ except AttributeError: return type.__call__(cls, *args, **opts) return classcall(cls, *args, **opts) class MyUniqueRepresentation: __metaclass__ = Classcall @staticmethod def __classcall__(cls, *args, **opts): out = super(cls,cls).__new__(cls, *args, **opts) print(classcall got,type(out), cls) cls.__init__(out,*args,**opts) out._reduction = (type(out), args, opts) return out Loading the above into python2, I get ,,, class Foo(MyUniqueRepresentation): ... def __init__(self, a,b): ... self.a = a ... self.b = b ... ,,, A = Foo(A,B) (classcall got, ,class __main__.Foo,, ,class __main__.Foo,) ,,, A._reduction (,class __main__.Foo,, (A, B), {}) But doing the same in python3, it gives ,,, class Foo(MyUniqueRepresentation): ... def __init__(self, a,b): ... self.a = a ... self.b = b ... ...
The Coffin-Lowry Syndrome Foundation[10] acts as a clearinghouse for information on Coffin-Lowry syndrome and hosts a forum for ... "Chewing and Swallowing Training Program in Coffin-Lowry Syndrome". *^ "Coffin Lowry Syndrome - NORD (National Organization for ... Coffin-Lowry was first described by Grange S. Coffin (b. 1923) in 1966 and independently by Robert Brian Lowry (b. 1932) in ... "Coffin-Lowry Syndrome Foundation". National Institute of Neurological Disorders and Stroke. Retrieved 29 February 2016.. ...
Coffin-Lowry syndrome is a condition that affects many parts of the body. Explore symptoms, inheritance, genetics of this ... medlineplus.gov/genetics/condition/coffin-lowry-syndrome/ Coffin-Lowry syndrome. ... Coffin-Lowry syndrome: a 20-year follow-up and review of long-term outcomes. Am J Med Genet. 2002 Sep 1;111(4):345-55. Review. ... Coffin-Lowry syndrome is a condition that affects many parts of the body. The signs and symptoms are usually more severe in ...
... external resources ICD-9 759.89 OMIM 303600 DiseasesDB 2934 MeSH D038921 Coffin-lowry syndrome was ... Coffin-lowry syndrome was characterised by Coffin (1966)and Lowry (1971) Coffin-Lowry syndrome is a condition associated with ... Coffin-Lowry syndrome is a severe mental retardation associated with abnormalities of: Growth. In utero growth is normal but ... Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. This gene is located on the short arm of the X chromosome (Xp22.2). ...
We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic ... Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the ... Brief clinical report: early recognition of the Coffin-Lowry syndrome.. Wilson WG, Kelly TE. ...
Coffin-Lowry syndrome is a congenital disorder that leads to intellectual disability, distinctive facial features, and other ... The symptoms of Coffin-Lowry syndrome, which tend to be more severe in men, become more prominent with age. These include: ... A congenital condition, Coffin-Lowry syndrome arises due to mutations in one of two specific genes of the X chromosome: RPS6KA3 ... Coffin-Lowry syndrome is a rare neurological disorder characterized by mild to profound intellectual disability, as well as ...
Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations.. ... We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to ... These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin-Lowry syndrome. Early diagnosis ... These "new" clinical manifestations expand the phenotype of Coffin-Lowry syndrome and constitute an additional indication of ...
... an X-linked syndrome. The case we reported here manifests its signature characteristic of short stature, facial dysmorphism, ... an X-linked syndrome. The case we reported here manifests its signature characteristic of short stature, facial dysmorphism, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, ... Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. The case here reported manifests its signature ...
Coffin-Lowry syndrome: clinical and molecular features Message subject: (Your Name) has forwarded a page to you from Journal of ...
The Coffin-Lowry Syndrome Foundation was formed in 1991 to serve as a clearinghouse for information on the syndrome, a support ... There is no charge for membership or information related to Coffin-Lowry Syndrome. Donations are encouraged, however, as they ...
Please note that this website is no longer being updated from April 2018. If you are interested in requesting any of the tests listed, please contact the laboratories directly. Laboratory contact details are available by using the "Find a Laboratory" search function. Alternatively, details are available after selecting a test and clicking on the blue "Service Level" title ...
... is a rare X-linked genetic syndrome affecting multiple body parts. Epidemiology The condition tends to affect males much more ... Coffin-Lowry syndrome (CLS) is a rare X-linked genetic syndrome affecting multiple body parts. ... Coffin-Lowry syndrome. Eur. J. Hum. Genet. 2010;18 (6): 627-33. doi:10.1038/ejhg.2009.189 - Free text at pubmed - Pubmed ... Coffin-Lowry syndrome: clinical and molecular features. J. Med. Genet. 2002;39 (10): 705-13. J. Med. Genet. (link) - Free text ...
Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ... Loss of the Coffin-Lowry syndrome-associated gene RSK2 alters ERK activity, synaptic function and axonal transport in ... Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ... Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and ...
Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. Males are ... Coffin Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial ( ... Coffin Lowry Syndrome Care management for individuals with Coffin-Lowry syndrome is symptomatic, supportive and based is what ... Coffin Lowry Syndrome Coffin Lowry syndrome is a rare genetic disorder characterized by ...
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... information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Coffin-Lowry syndrome ... Are there any foods or supplements that have been shown to benefit people with Coffin-Lowry syndrome? How might Coffin-Lowry be ... Coffin-Lowry Syndrome Foundation Attn: Mary C. Hoffman 675 Kalmia Pl NW Issaquah, WA 98027 Telephone: 425-427-0939 (Best time ... Coffin-Lowry syndrome. is a genetic condition that affects many parts of the body. The signs and symptoms and severity vary ...
Noonan Syndrome With Multiple Lentigines. *Neurofibromatosis and NF1. *Coffin-Lowry Syndrome. *Pierre-Robin Sequence ...
Form of Coffin-Lowry Syndrome in Female Carriers An important gene associated with Symptomatic Form of Coffin-Lowry Syndrome in ... Human phenotypes related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:. 58 31 (show all 24) #. Description. ... MalaCards organs/tissues related to Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers:. 40 Heart ... Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers Categories: Endocrine diseases, Fetal diseases, Neuronal diseases ...
The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. At find-more- ... The Official Parent's Sourcebook on Coffin-Lowry Syndrome A Revised and Updated Directo. - new book ... The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. - new book ... The Official Parents Sourcebook on Coffin-Lowry Syndrome: A Revised and Updated Directory for the Internet Age. - new book ...
Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). RPS6KA3 has been shown to interact with CREB- ... Jacquot S, Zeniou M, Touraine R, Hanauer A (January 2002). "X-linked Coffin-Lowry syndrome (CLS, MIM 303600, RPS6KA3 gene, ... Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A (1999). "Germline mosaicism in Coffin-Lowry syndrome". ... GeneReviews/NCBI/NIH/UW entry on Coffin-Lowry syndrome Biology portal. ...
Cardiomyopathy in Coffin-Lowry syndrome. Am J Med Genet A. 2004 Jul 15. 128(2):176-8. [Medline]. ... Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. J Am Coll Cardiol. 2005 ... Associated syndromes and noncardiac conditions include scleroderma, amyloidosis, sarcoidosis, Gaucher disease, Hurler disease, ... and RSK2 in Coffin-Lowry syndrome. [17, 18, 19] ... Hypereosinophilic syndrome (also known as Loeffler endocarditis ...
Coffin-Lowry Syndrome. Find the facts of coffin-Lowry syndrome including Symptoms, Causes, Treatment, Diagnosis, Prevention and ... DNA Finger PrintingAutismRett SyndromeWeaver SyndromeIntellectual disabilityAcquired Epileptiform AphasiaCoffin-Lowry Syndrome ... Weaver Syndrome. Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone age and a ... Rett Syndrome is a neurological disorder that affects development. It mostly affects the girl child. ...
Stimulus-Induced Drop Episodes in Coffin-Lowry Syndrome Gregg B. Nelson, Jin S. Hahn ... Health Supervision for Children With Turner Syndrome Jaime L. Frías, Marsha L. Davenport, Committee on Genetics, Section on ... Toe Tourniquet Syndrome in Association With Maternal Hair Loss R. Scott Strahlman ... Survey of Current Practice of Pediatric Electrophysiologists for Asymptomatic Wolff-Parkinson-White Syndrome Robert M. Campbell ...
13 Coffin-Lowry Syndrome (Alasdair G.W. Hunter).. 14 Cohen Syndrome (Kate Chandler and Jill Clayton-Smith). ... 32 Kabuki Syndrome (Sarah Dugan and Louanne Hudgins).. 33 Klinefelter Syndrome (Jeannie Visootsak, John M. Graham Jr., Carole ... 44 PTEN Hamartoma Tumor Syndromes (Emily Edelman and Charis Eng).. 45 Rett Syndrome (Eric E. Smeets and Connie T.R.M. Schrander ... 21 Deletion 22q13 Syndrome: Phelan-McDermid Syndrome (Mary C. Phelan, Gail A. Stapleton and R. Curtis Rogers). ...
CLS, Coffin-Lowry syndrome; HFD, high-fat diet; MAP, mitogen-activated protein; RSK2, ribosomal S6 kinase 2; WAT, white adipose ... Jacquot S, Merienne K, Pannetier S, Blumenfeld S, Schinzel A, Hanauer A: Germline mosaicism in Coffin-Lowry syndrome. Eur J Hum ... Young ID: The Coffin-Lowry syndrome. J Med Genet25 :344 -348,1988. ... in the human rsk2 gene cause a rare form of the X-linked mental retardation syndrome known as the Coffin-Lowry syndrome (CLS) ( ...
Coffin-Lowry syndrome in Chinese. Am J Med Genet A 2019 Oct;179(10):2043-2048. [CrossRef] [Medline] ... 6 syndromes in 70%-80% of the cases; 4 syndromes in 60%-70% of the cases; 6 syndromes in 50%-60% of the cases; 6 syndromes in ... Fragile X syndrome (OMIM: #300624), Angelman syndrome (OMIM: #105830), Rett syndrome (OMIM: #312750), Phelan-McDermid syndrome ... In contrast, syndromes such as Treacher-Collins syndrome and Wolf-Hirschhorn syndrome were implied very rarely. ...
ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome. Cell 2004; ...
"ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.". Yang X. ... "ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.". Yang X. ... "ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.". Yang X. ... "ATF4 is a substrate of RSK2 and an essential regulator of osteoblast biology; implication for Coffin-Lowry Syndrome.". Yang X. ...
Diseases associated with RPS6KA4 include Coffin-Lowry Syndrome. Among its related pathways are MAPK Signaling: Oxidative Stress ...
Diseases associated with RPS6KA4 include Coffin-Lowry Syndrome. Among its related pathways are CNTF Signaling and Melanocyte ...
  • Coffin-Lowry syndrome is an X-linked disorder resulting from loss-of-function mutations in the RPS6KA3 gene, which encodes RSK2 (ribosomal S6 kinase 2). (wikipedia.org)
  • 1 Delaunoy JP, Dubos A, Marques Pereira P, Hanauer A. Identification of novel mutations in the RSK2 gene (RPS6KA3) in patients with Coffin-Lowry syndrome. (bionity.com)
  • A congenital condition, Coffin-Lowry syndrome arises due to mutations in one of two specific genes of the X chromosome: RPS6KA3 and RSK2. (verywellhealth.com)
  • Loss-of-function mutations in human RSK2 cause Coffin-Lowry syndrome, which is characterized by severe mental retardation and low IQ scores in affected males. (uni-wuerzburg.de)
  • Coffin-Lowry syndrome is caused by mutations in the RSK2 gene and is inherited as an X-linked dominant genetic trait. (rarecare.world)
  • Recently, it was discovered that mutations in the human rsk2 gene cause a rare form of the X-linked mental retardation syndrome known as the Coffin-Lowry syndrome (CLS) ( 34 , 35 ). (diabetesjournals.org)
  • RSK2 gene mutations in Coffin-Lowry syndrome with drop episodes. (biomedsearch.com)
  • Coffin-Lowry syndrome is an X-linked mental retardation disorder with dysmorphism caused by mutation of the ribosomal S6 kinase (RSK2) gene. (biomedsearch.com)
  • Mutations in the Rsk2 gene cause Coffin-Lowry syndrome, a rare syndromic form of intellectual disability. (uzh.ch)
  • Inactivation of the growth factor-regulated S6 kinase RSK2 causes Coffin-Lowry syndrome in humans, an X-linked mental retardation condition associated with progressive skeletal abnormalities. (jci.org)
  • 2008) The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1. (phosphosite.org)
  • Nicolas Vitale Maria Zeniou-Meyer and colleagues in 2008 proposed that the loss of expression of the kinase RSK2, which leads to Coffin-Lowry syndrome (a rare syndromic form of mental retardation), reduced PA synthesis and distorted neurosecretion. (asbmb.org)
  • Mutations in RSK2 have been found to be associated with Coffin-Lowry syndrome (3). (genwaybio.com)
  • The syndrome is caused by mutations in the RPS6KA3 gene . (wikipedia.org)
  • Mutations in the RPS6KA3 disturb the function of the protein, but it is unclear how a lack of this protein causes the signs and symptoms of Coffin-Lowry syndrome. (wikipedia.org)
  • [2] Some people with the features of Coffin-Lowry syndrome do not have identified mutations in the RPS6KA3 gene. (wikipedia.org)
  • Mutations in the RPS6KA3 gene cause Coffin-Lowry syndrome. (medlineplus.gov)
  • The historical Coffin-Lowry syndrome family revisited: identification of two novel mutations of RPS6KA3 in three male patients. (medlineplus.gov)
  • citation needed] The syndrome is caused by mutations in the RPS6KA3 gene. (wikipedia.org)
  • Mutations in the RPS6KA3 disturb the function of the protein, but it is not well understood how mutations lead to the signs and symptoms of Coffin-Lowry syndrome. (bionity.com)
  • Mutations in this gene have been associated with Coffin-Lowry syndrome (CLS). (wikipedia.org)
  • Novel mutations in MYO7A and USH2A in Usher syndrome. (biomedsearch.com)
  • Mutations in MYO7A and USH2A are responsible for about 40% and 60% of Usher syndromes type 1 and 2, respectively. (biomedsearch.com)
  • Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. (biomedsearch.com)
  • Autosomal dominant mutations in the gene encoding the basic helix-loop-helix transcription factor Twist1 are associated with limb and craniofacial defects in humans with Saethre-Chotzen syndrome. (biomedsearch.com)
  • Single-gene mutations can produce human progeroid syndromes--phenotypes that mimic usual or 'normative' aging. (biomedsearch.com)
  • Blau syndrome is an autosomal dominant inherited disease and is known to be caused by mutations in the CARD15 gene (also called NOD2). (biomedsearch.com)
  • The location of the 72 genes for XLID syndromes which have been cloned and mutations demonstrated. (els.net)
  • Amir RE, Van den Veyver IB, Wan M. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl- CpG-binding protein 2. (medscape.com)
  • To gain further mechanistic insights by extending previous gene expression data, we constructed co-expression networks in Timothy syndrome (TS), a monogenic condition with high penetrance for ASD, caused by mutations in the L-type calcium channel, Ca v 1.2. (biomedcentral.com)
  • A particularly salient example of a perturbation in Ca v 1.2 function is Timothy syndrome (TS), a rare genetic disorder caused by dominant mutations in the gene CACNA1C , which encodes the α subunit of the voltage-gated calcium channel Ca v 1.2. (biomedcentral.com)
  • All of these syndromes occur due to mutations of the same gene on the X chromosome. (cigna.com)
  • Mutations in the kinase Rsk-2 associated with Coffin-Lowry syndrome. (genwaybio.com)
  • Mutation of RPS6KA3 can induce Coffin-Lowry syndrome, an X-linked syndrome. (frontiersin.org)
  • The Coffin-Lowry gene (RPS6KA3) is located on the X chromosome (Xp22.2). (rarecare.world)
  • Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers An important gene associated with Symptomatic Form of Coffin-Lowry Syndrome in Female Carriers is RPS6KA3 (Ribosomal Protein S6 Kinase A3). (malacards.org)
  • Mutation in the RPS6KA3 gene also causes Coffin-Lowry syndrome ( CLS ), a mental retardation syndrome with dysmorphic facial features and skeletal anomalies. (mendelian.co)
  • The RPS6KA3 gene is associated with X-linked dominant Coffin Lowry syndrome (MedGen UID: 75556) and isolated intellectual disability (MedGen UID: 208676). (invitae.com)
  • Coffin-Lowry syndrome is a genetic disorder that is X-linked dominant and which causes severe mental problems sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis , as well as auditory and visual abnormalities. (wikipedia.org)
  • Coffin-Lowry syndrome is a condition associated with mental retardation and delayed development, characteristic facial features, and skeletal abnormalities like scoliosis ans cyphosis. (bionity.com)
  • Warburg Micro syndrome (WARBM1) is a severe autosomal recessive disorder characterized by developmental abnormalities of the eye and central nervous system and by microgenitalia. (biomedsearch.com)
  • We report the clinical and molecular abnormalities in a 19-year-old woman with Rapp-Hodgkin ectodermal dysplasia syndrome. (biomedsearch.com)
  • Affected individuals may also have renal tract abnormalities as well as neurogical and psychiatric syndromes. (biomedsearch.com)
  • ATR-X syndrome is characterized by mental retardation, characteristic facial features, abnormalities of the genitourinary tract, and alpha thalassemia. (cigna.com)
  • Kondoh et al 8 reported a patient with dup 8p23.1 and features of Coffin-Lowry syndrome (CLS), including moderate mental retardation along with multiple physical abnormalities. (bmj.com)
  • Similar to the loss of epigenetic control seen in Rett Syndrome [MIM: 312750], these disorders are thought to result from global changes in gene expression throughout development leading to abnormalities in multiple body systems. (biomedcentral.com)
  • Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes. (mendelian.co)
  • Mouse mutants carrying deletions that remove the genes mutated in Coffin-Lowry syndrome and lactic acidosis. (jax.org)
  • Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. (biomedcentral.com)
  • Conversely, discrete genetic anomalies are involved in Down, Rett and Fragile X syndromes, tuberous sclerosis and neurofibromatosis, the less familiar Phelan-McDermid, Sotos, Kleefstra, Coffin-Lowry and "ATRX" syndromes, and the disorders of imprinting, Angelman and Prader-Willi syndromes. (cra-rhone-alpes.org)
  • The symptoms of Coffin-Lowry syndrome, which tend to be more severe in men, become more prominent with age. (verywellhealth.com)
  • A review in the American Journal of Medical Genetics heralded the first edition of Management of Genetic Syndromes as an ""unparalleled collection of knowledge. (wiley.com)
  • This thorough revision of the critically acclaimed bestseller offers original insights into the medical management of sixty common genetic syndromes seen in children and adults, and incorporates new research findings and the latest advances in diagnosis and treatment of these disorders. (wiley.com)
  • Management of Genetic Syndromes, Third Edition is a premier source to guide family physicians, pediatricians, internists, medical geneticists, and genetic counselors in the clinical evaluation and treatment of syndromes. (wiley.com)
  • Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic syndromes. (jmir.org)
  • Over the past decade, many new genetic syndromes have been identified within this area. (biomedcentral.com)
  • This review aims to highlight the importance of studying variation in deep intronic sequence as a cause of monogenic disorders as well as hereditary cancer syndromes. (springer.com)
  • According to the Genetics Home Reference, a website of the U. S. government that seeks to promote education about genetic disorders, small teeth are caused by many different conditions, such as amelogenesis imperfecta, Down syndrome, Larsen syndrome, polydactyly and Coffin-Lowry syndrome. (reference.com)
  • Some researchers have suggested the name XLID-hypotonic face syndrome be used to designate several disorders formerly considered separate entities including ATR-X syndrome, Carpenter-Waziri syndrome, Chudley-Lowry syndrome, Holmes-Gang syndrome and X-linked intellectual disability-arch fingerprints-hypotonia syndrome. (cigna.com)
  • CHD7 sequencing is a molecular test used to identify variants in the gene associated with CHD7-related disorders including CHARGE syndrome and Kallman syndrome 5. (isinproduction.com)
  • Fragile X syndrome (FXS) is one of the most prevalent and well-studied monogenetic causes of intellectual disability and autism and, although rare, its high penetrance makes it a desirable model for the study of neurodevelopmental disorders more generally. (cra-rhone-alpes.org)
  • The VATER/VACTERL association is a syndrome notable for congenital vertebral malformations, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, and renal or limb malformations. (springer.com)
  • Aarskog syndrome , Aarskog-Scott syndrome a hereditary X-linked condition characterized by ocular hypertelorism, anteverted nostrils, broad upper lip, peculiar scrotal "shawl" above the penis, and small hands. (thefreedictionary.com)
  • Dysregulation of signal transduction at these sites is the cause of a number of hereditary and non-hereditary diseases, including Coffin-Lowry syndrome, spinocerebellar ataxia, myotonic dystrophy, and various cancers. (mfpl.ac.at)
  • Males with Coffin-Lowry syndrome typically have severe to profound intellectual disability and delayed development. (medlineplus.gov)
  • Coffin-Lowry syndrome is a rare neurological disorder characterized by mild to profound intellectual disability, as well as developmental delays in growth and motor coordination. (verywellhealth.com)
  • Börjeson-Forssman-Lehmann syndrome (BFLS) is an extremely rare disorder characterized by intellectual disability, obesity, seizures, failure of the testes in males or the ovaries in females to produce hormones (hypogonadism), and distinctive facial features. (rarediseases.org)
  • It is possible that the main title of the report Alpha Thalassemia X-linked Intellectual Disability Syndrome is not the name you expected. (cigna.com)
  • Alpha thalassemia X-linked intellectual disability (ATR-X) syndrome is a rare genetic disorder affecting multiple organ systems of the body. (cigna.com)
  • For example, Ricardos Tabet and colleagues proposed in 2016 that an alteration of the PA/diacylglycerol balance could be a main cause of fragile X syndrome, a genetic cause of intellectual disability. (asbmb.org)
  • Wiedemann-Steiner Syndrome (WSS) is characterized by short stature, a variety of dysmorphic facial and skeletal features, characteristic hypertrichosis cubiti (excessive hair on the elbows), mild-to-moderate developmental delay and intellectual disability. (biomedcentral.com)
  • Absence of a facial gestalt suggestive of a genetic syndrome was determined by physicians working in medical genetics. (jmir.org)
  • Care management for individuals with Coffin-Lowry syndrome is symptomatic, supportive and based is what is known of Coffin-Lowry syndrome. (rarecare.world)
  • It is named after the American pediatrician Grange S Coffin who described it in 1966 and Irish-Canadian physician Robert Brian Lowry who described in 1971 4,5 . (radiopaedia.org)
  • Especially prominent in males and most visible in late childhood, those with Coffin-Lowry syndrome have a prominent forehead, widely-spaced and downwardly slanted eyes, a shorter, wide nose, as well as a wider mouth with thicker lips. (verywellhealth.com)
  • Females who carry a single copy of the disease gene (heterozygous carriers) may develop some variable features of the disorder, however, in some instances they can have features similar to the affected males (i.e. be considered as affected with the syndrome). (rarediseases.org)
  • Börjeson-Forssman-Lehmann syndrome has been considered to be fully expressed only in males given the X-chromosome localization of the responsible gene (see below). (rarediseases.org)
  • Herrera-Soto JA, Santiago-Cornier A, Segal LS, Ramirez N, Tamai J. The musculoskeletal manifestations of the Coffin-Lowry syndrome. (medlineplus.gov)
  • We report a 2-year-old male infant with the Coffin-Lowry syndrome, and describe the change in his clinical and radiographic manifestations during the first 2 years of life. (nih.gov)
  • Review of published cases of the Coffin-Lowry syndrome indicates that these manifestations are progressive, and that all of the associated characteristics may not be apparent in early childhood. (nih.gov)
  • Pleiotropy in Coffin-Lowry syndrome: sensorineural hearing deficit and premature tooth loss as early manifestations. (nih.gov)
  • These "new" clinical manifestations expand the phenotype of Coffin-Lowry syndrome and constitute an additional indication of pleiotropy. (nih.gov)
  • Yassir WK, Grottkau BE, Goldberg MJ (2003) Costello syndrome: orthopaedic manifestations and functional health. (springer.com)
  • In this pattern of inheritance, fathers with the syndrome cannot pass it to sons (since sons receive a Y chromosome from the father, with their X chromosome coming from their mother). (verywellhealth.com)
  • These are previously unappreciated clinical signs that may aid in the early diagnosis of Coffin-Lowry syndrome. (nih.gov)
  • Frontal facial images of individuals with a diagnosis of a genetic syndrome (established clinically or molecularly) from a convenience sample were reanalyzed. (jmir.org)
  • del Rio Holgado M, Martinez JM, Gomez O, Casals G, Bargallo N, Fortuny A, Puerto B (2005) Ultrasonographic diagnosis of Jarcho-Levin syndrome at 20 weeks' gestation in a fetus without previous family history. (springer.com)
  • Ultimately, though, more research is needed to ascertain the exact mechanism of this mutation as it relates to the syndrome. (verywellhealth.com)
  • Only one mutation of the gene is sufficient to cause Coffin-Lowry syndrome, hence its "dominance. (verywellhealth.com)
  • A novel epithelial sodium channel beta-subunit mutation associated with hypertensive Liddle syndrome. (biomedsearch.com)
  • Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis. (biomedsearch.com)
  • We report on 7 patients (6 M, 1 F) with Coffin-Lowry syndrome who have a sensorineural hearing deficit in addition to developmental delay and characteristic facial changes. (nih.gov)
  • This delightfully illustrated fairy tale instills appreciation for children with Down syndrome and other developmental challenges, making it a valuable aid for teaching tolerance in the home or classroom. (plough.com)
  • acquired immune deficiency syndrome , acquired immunodeficiency syndrome an epidemic, transmissible retroviral disease caused by infection with the human immunodeficiency virus, manifested in severe cases as profound depression of cell-mediated immunity, and affecting certain recognized risk groups. (thefreedictionary.com)
  • Coffin-Lowry syndrome: clinical and molecular features. (medlineplus.gov)
  • Brief clinical report: early recognition of the Coffin-Lowry syndrome. (nih.gov)
  • Hanauer A, Young ID (2002) Coffin-Lowry syndrome: clinical and molecular features. (springer.com)
  • Greenberg F, Lewis RA, Potocki L. Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). (medscape.com)
  • acute coronary syndrome a classification encompassing clinical presentations ranging from unstable angina through non , sometimes also including Q wave infarction . (thefreedictionary.com)
  • As the hallmark hypertrichosis cubiti was not initially appreciated in either case, this syndrome was not suspected during the clinical evaluation. (biomedcentral.com)
  • A new dominant gene mental retardation syndrome. (radiopaedia.org)
  • Mortality of people with mental retardation in California with and without Down syndrome, 1986-1991. (medscape.com)
  • Impaired mental functioning occurs as an isolated feature or as part of many syndromes listed in the X-linked catalog. (mendelian.co)
  • Many with Coffin-Lowry syndrome experience either scoliosis (lateral curvature) or kyphosis (outward rounding) of the spine. (verywellhealth.com)
  • Rett Syndrome is a neurological disorder that affects development. (medindia.net)
  • CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasms. (biomedsearch.com)
  • We report on seven patients affected with Nevo syndrome, a rare, autosomal recessive disorder characterized by increased perinatal length, kyphosis, muscular hypotonia, and joint laxity. (biomedsearch.com)
  • Wolfram syndrome (WFS) is an autosomal recessive disorder characterized by early onset diabetes mellitus, progressive optic atrophy, sensorineural deafness and diabetes insipidus. (biomedsearch.com)
  • Puumala virus (PUUV) is the etiologic agent of nephropathia epidemica, a mild form of hemorrhagic fever with renal syndrome (HFRS). (biomedsearch.com)
  • are also characteristic of Coffin-Lowry syndrome. (medlineplus.gov)
  • Weaver syndrome is a genetic disorder in which children show accelerated bone growth, advanced bone age and a characteristic appearance of the face. (medindia.net)
  • Individuals with ATR-X syndrome have characteristic facial features including an abnormally large space between the eyes (hypertelorism), vertical skin folds (epicanthal folds) that may cover the eyes' inner corners, underdevelopment of the middle portion of the face (mid-face hypoplasia), an abnormally flat bridge of the nose, and a small triangular nose. (cigna.com)
  • LIM-kinase deleted in Williams syndrome [letter]. (medscape.com)
  • FGD1 sequencing is a molecular test used to identify variants in the gene associated with Aarskog syndrome. (isinproduction.com)
  • Coffin-Lowry syndrome patients can experience unusual drop episodes whereby an abrupt loss of muscle tone and falling down can be induced by sudden, unexpected tactile or auditory stimuli. (biomedsearch.com)
  • Usher syndrome is an autosomal recessive disease associating retinitis pigmentosa and neurosensory deafness. (biomedsearch.com)
  • Little is known about the natural history of spinal deformities in Coffin-Lowry syndrome (CLS). (readbyqxmd.com)
  • Those with this syndrome may have double-jointedness, a shortened big toe, thicker facial bones, shortening of longer bones, and a pointed or sunken breast-bone. (verywellhealth.com)
  • Identification of a gene ( FMR-1 ) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X Syndrome. (nature.com)
  • Fragile X syndrome is the most frequent syndrome and most studied XLID syndrome. (els.net)
  • Systematic review of pharmacological treatments in fragile X syndrome. (medscape.com)
  • From ASD (Autism Spectrum Disorder) to ZS (Zellweger Syndrome), there seems to be an alphabet disorder for almost every behavior, from those caused by serious, rare genetic diseases to more common learning disabilities that hinder children's academic and social progress. (ubcpress.ca)
  • Patients with sporadic early-onset granulomatous arthritis are clinically identical to Blau syndrome, but without the family history. (biomedsearch.com)
  • 19. Monga N, Kharbanda OP, Samrit V. Quantitative and qualitative assessment of anchorage loss during en-masse retraction with indirectly loaded miniscrews in patients with bimaxillary protrusion. (aiims.edu)
  • From October 2014 to January 2016, 4 patients with thoracic spinal tumour were treated by anterior thoracoscopically assisted surgery with posterior one-stage total en block spondylectomy. (readbyqxmd.com)

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