KEGG   DISEASE: Prader-Willi syndrome
Entry
H00478                      Disease                                
Name
Prader-Willi syndrome
  Subgroup
Schaaf-Yang syndrome [DS:H02325]
  Supergrp
Male hypogonadism [DS:H02027]
Description
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional paternal copy of 15q11-q13 causes PWS. Additionally, it has been reported that MECP2 deficiency leads to decreased expression of UBE3A. PWS and AS have characteristic neurologic, developmental, and behavioral phenotypes plus other structural and functional abnormalities. The behavioral and endocrine disorders are more severe in PWS, including obsessive-compulsive symptoms and hypothalamic insufficiency.
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
   H00478  Prader-Willi syndrome
Gene
NDN [HSA:4692] [KO:K19482]
SNRPN [HSA:6638] [KO:K11100]
NPAP1 [HSA:23742] [KO:K26564]
Comment
See also H01732 Angelman syndrome (AS).
Other DBs
ICD-11: LD90.3
ICD-10: Q87.1
MeSH: D011218
OMIM: 176270
Reference
  Authors
Cassidy SB, Dykens E, Williams CA
  Title
Prader-Willi and Angelman syndromes: sister imprinted disorders.
  Journal
Reference
  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:18930956 (NDN)
  Authors
Miller NL, Wevrick R, Mellon PL
  Title
Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development.
  Journal
Hum Mol Genet 18:248-60 (2009)
DOI:10.1093/hmg/ddn344
Reference
PMID:9915945 (SNRPN)
  Authors
Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA
  Title
Prader-Willi syndrome is caused by disruption of the SNRPN gene.
  Journal
Am J Hum Genet 64:70-6 (1999)
DOI:10.1086/302177
Reference
PMID:24482533 (NPAP1)
  Authors
Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B
  Title
The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes.
  Journal
Genome Biol Evol 6:344-51 (2014)
DOI:10.1093/gbe/evu019

» Japanese version

DBGET integrated database retrieval system