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AS
MCID: ANG001
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Angelman Syndrome malady |
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Sources: 30NIH Rare Diseases, 31NINDS, 17Genetics Home Reference, 15GeneReviews, 33OMIM, 22MalaCards See all sources Export this MalaCard |
NINDS: 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.31
MalaCards: Angelman Syndrome, also known as AS, is related to prader-willi syndrome and microcephaly. An important gene associated with Angelman Syndrome is ANCR (Angelman syndrome chromosome region), and among its related pathways are Benzodiazepine Pathway, Pharmacodynamics and GABA signaling in brain. The compounds flumazenil and hpaii have been mentioned in the context of this disorder. Affiliated tissues include brain, cortex and fetal brain. NIH Rare Diseases: 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.30 Genetics Home Reference: 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.17 Wikipedia: Angelman syndrome (pron.: /ˈeɪndʒəlmən/; abbreviated AS) is a neuro-genetic disorder characterized...44 more... OMIM: 105830 GeneReviews summary for angelman |
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Sources: 6Disease Ontology, 7diseasecard, 44Wikipedia, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 31NINDS, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 40SNOMED-CT, 24MeSH See all sources |
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Sources: 33OMIM See all sources |
Clinical features from OMIM: 105830
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
Approved drugs:Search CenterWatch for angelman syndrome Drug clinical trials:Search ClinicalTrials for angelman syndrome Search NIH Clinical Center for angelman syndrome Search CenterWatch for angelman syndrome |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to angelman syndrome:22Brain, Cortex, Fetal brain, Tongue
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Sources: 35PubMed See all sources |
Articles related to angelman syndrome:(show top 50) (show all 103)
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Sources: 1BioGPS See all sources |
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Sources: 34PharmGKB, 10EMD Millipore, 38Reactome See all sources |
Pathways related to angelman syndrome according to GeneDecks:
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Sources: 32Novoseek , 9DrugBank, 42Tocris Bioscience, 34PharmGKB See all sources |
Compounds related to angelman syndrome according to GeneDecks:(show top 50) (show all 51)
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Sources: 12Gene Ontology See all sources |
Cellular components related to angelman syndrome according to GeneDecks:
Biological processes related to angelman syndrome according to GeneDecks:
Molecular functions related to angelman syndrome according to GeneDecks:
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