KEGG   DISEASE: Prader-Willi syndromeHelp
Entry
H00478                      Disease                                

Name
Prader-Willi syndrome
  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 [BR:br08402]
 Other congenital disorders
  Chromosomal abnormalities
   H00478  Prader-Willi syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Chromosomal anomalies, excluding gene mutations
   Sex chromosome anomalies
    LD90  Conditions with disorders of intellectual development as a relevant clinical feature
     H00478  Prader-Willi syndrome
BRITE hierarchy
Gene
NDN [HSA:4692] [KO:K19482]
SNRPN [HSA:6638] [KO:K11100]
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
  Authors
Makedonski K, Abuhatzira L, Kaufman Y, Razin A, Shemer R
  Title
MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.
  Journal
Hum Mol Genet 14:1049-58 (2005)
DOI:10.1093/hmg/ddi097

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