H00478 | |
H number | H00478 |
Name | Prader-Willi syndrome |
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 |
Network | - |
Gene | NDN [HSA:4692] [KO:K19482] SNRPN [HSA:6638] [KO:K11100] NPAP1 [HSA:23742] [KO:K26564] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | See also H01732 Angelman syndrome (AS). |
Other DBs | ICD-11: LD90.3 ICD-10: Q87.1 MeSH: D011218 OMIM: 176270 |
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 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 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 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 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 |