KEGG   DISEASE: Angelman syndrome
Entry
H01732                      Disease                                
Name
Angelman syndrome
Description
Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13, causes AS. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. However, the cognitive and neurologic impairment is more severe in AS, including seizures and ataxia.
Category
Chromosomal abnormality
Brite
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  LD90  Conditions with disorders of intellectual development as a relevant clinical feature
   H01732  Angelman syndrome
Pathway
hsa04120  Ubiquitin mediated proteolysis
Gene
UBE3A [HSA:7337] [KO:K10587]
Comment
See also H00478 Prader-Willi syndrome (PWS).
Other DBs
ICD-11: LD90.0
ICD-10: Q93.5
MeSH: D017204
OMIM: 105830
Reference
PMID:11180221
  Authors
Cassidy SB, Dykens E, Williams CA
  Title
Prader-Willi and Angelman syndromes: sister imprinted disorders.
  Journal
Am J Med Genet 97:136-46 (2000)
DOI:10.1002/1096-8628(200022)97:2<136::AID-AJMG5>3.0.CO;2-V
Reference
PMID:21592595
  Authors
Mabb AM, Judson MC, Zylka MJ, Philpot BD
  Title
Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes.
  Journal
Trends Neurosci 34:293-303 (2011)
DOI:10.1016/j.tins.2011.04.001
Reference
PMID:18627066
  Authors
Horsthemke B, Wagstaff J
  Title
Mechanisms of imprinting of the Prader-Willi/Angelman region.
  Journal
Am J Med Genet A 146A:2041-52 (2008)
DOI:10.1002/ajmg.a.32364
Reference
PMID:20211139
  Authors
Greer PL, Hanayama R, Bloodgood BL, Mardinly AR, Lipton DM, Flavell SW, Kim TK, Griffith EC, Waldon Z, Maehr R, Ploegh HL, Chowdhury S, Worley PF, Steen J, Greenberg ME
  Title
The Angelman Syndrome protein Ube3A regulates synapse development by ubiquitinating arc.
  Journal
Cell 140:704-16 (2010)
DOI:10.1016/j.cell.2010.01.026
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