| H00478 | |
| H番号 | H00478 |
| 名称 | プラダー・ウィリー症候群 |
| 概要 | 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. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | NDN [HSA:4692] [KO:K19482] SNRPN [HSA:6638] [KO:K11100] NPAP1 [HSA:23742] [KO:K26564] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | ソマトロピン [DR:D02691] |
| コメント | See also H01732 Angelman syndrome (AS). |
| リンク | ICD-11: LD90.3 ICD-10: Q87.1 MeSH: D011218 OMIM: 176270 |
| 文献 | PMID:11180221 著者 Cassidy SB, Dykens E, Williams CA タイトル Prader-Willi and Angelman syndromes: sister imprinted disorders. 雑誌 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 著者 Horsthemke B, Wagstaff J タイトル Mechanisms of imprinting of the Prader-Willi/Angelman region. 雑誌 Am J Med Genet A 146A:2041-52 (2008) DOI:10.1002/ajmg.a.32364 PMID:18930956 (NDN) 著者 Miller NL, Wevrick R, Mellon PL タイトル Necdin, a Prader-Willi syndrome candidate gene, regulates gonadotropin-releasing hormone neurons during development. 雑誌 Hum Mol Genet 18:248-60 (2009) DOI:10.1093/hmg/ddn344 PMID:9915945 (SNRPN) 著者 Kuslich CD, Kobori JA, Mohapatra G, Gregorio-King C, Donlon TA タイトル Prader-Willi syndrome is caused by disruption of the SNRPN gene. 雑誌 Am J Hum Genet 64:70-6 (1999) DOI:10.1086/302177 PMID:24482533 (NPAP1) 著者 Neumann LC, Feiner N, Meyer A, Buiting K, Horsthemke B タイトル The imprinted NPAP1 gene in the Prader-Willi syndrome region belongs to a POM121-related family of retrogenes. 雑誌 Genome Biol Evol 6:344-51 (2014) DOI:10.1093/gbe/evu019 |