Angelman Syndrome (AS) malady
Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories
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21Genetics Home Reference, 42NIH Rare Diseases, 43NINDS, 65Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
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NINDS:43 Angelman syndrome is a genetic disorder that causes developmental delay and neurological problems. The physician Harry Angelman first delineated the syndrome in 1965, when he described several children in his practice as having "flat heads, jerky movements, protruding tongues, and bouts of laughter." Infants with Angelman syndrome appear normal at birth, but often have feeding problems in the first months of life and exhibit noticeable developmental delays by 6 to 12 months. Seizures often begin between 2 and 3 years of age. Speech impairment is pronounced, with little to no use of words. Individuals with this syndrome often display hyperactivity, small head size, sleep disorders, and movement and balance disorders that can cause severe functional deficits. Angelman syndrome results from absence of a functional copy of the gene inherited from the mother.
MalaCards based summary: Angelman Syndrome, also known as happy puppet syndrome, is related to mental retardation and autistic disorder, and has symptoms including microcephaly, brachycephaly/flat occiput and face/facial anomalies. An important gene associated with Angelman Syndrome is ANCR (Angelman syndrome chromosome region), and among its related pathways are GABA signaling in brain and Gastric cancer network 2. The compounds hpaii and gaba have been mentioned in the context of this disorder. Affiliated tissues include tongue, testes and brain, and related mouse phenotype reproductive system.
Genetics Home Reference:21 Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed development, intellectual disability, severe speech impairment, and problems with movement and balance (ataxia). Most affected children also have recurrent seizures (epilepsy) and a small head size (microcephaly). Delayed development becomes noticeable by the age of 6 to 12 months, and other common signs and symptoms usually appear in early childhood.
NIH Rare Diseases:42 Angelman syndrome is a genetic disorder that primarily affects the nervous system. characteristic features of this condition include developmental delay, intellectual disability, severe speech impairment, problems with movement and balance (ataxia), epilepsy, and a small head size. individuals with angelman syndrome typically have a happy, excitable demeanor with frequent smiling, laughter, and hand-flapping movements. many of the characteristic features of angelman syndrome result from the loss of function of a gene called ube3a. most cases of angelman syndrome are not inherited, although in rare cases a genetic change responsible for angelman syndrome can be inherited from a parent. last updated: 6/13/2011
Wikipedia:65 Angelman syndrome (/?e?nd??lm?n/; abbreviated AS) is a neuro-genetic disorder characterized by severe... more...
Description from OMIM:46 105830
GeneReviews summary for angelman
Angelman Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases
Rare neurological diseases
Characteristics (Orphanet epidemiological data):48
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal
Symptoms by clinical synopsis from OMIM:105830
Clinical features from OMIM:105830
Symptoms:48 (show all 21)
HPO human phenotypes related to Angelman Syndrome:(show all 70)
MalaCards organs/tissues related to Angelman Syndrome:32
Tongue, Testes, Brain, Eye, Bone, Cortex, Thyroid, Fetal brain, Amygdala
Articles related to Angelman Syndrome:(show top 50) (show all 510)
Clinvar genetic disease variations for Angelman Syndrome:6 (show all 11)
Search GEO for disease gene expression data for Angelman Syndrome.
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet