Diseases

Angelman Syndrome

angelman syndrome

Basic Information

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Description: NCI2016_02D:A genetic syndrome characterized by mental retardation, speech impairment, microcephaly, ataxia, and seizures. The majority of cases result from deletions on the long arm of chromosome 15. A minority of cases result from mutations in the UBE3A gene.|MSH2017_2016_08_12: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)|JABL99:A condition in which children laugh frequently for almost any reason and whose jerky movements and flapping of the hands are similar to those of a marionette, or puppet-- hence the synonym "happy puppet syndrome." Other disorders include a peculiar facial expression, mental retardation, movement disorders, microbrachycephaly, and various neurological disorders.|CSP2006:autosomal recessive syndrome characterized by jerky puppetlike movements, frequent laughter, mental and motor retardation, peculiar open-mouthed faces, and seizures.

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target disease8 Targets

actin beta

brain derived neurotrophic factor

calcium/calmodulin dependent protein kinase II alpha