| H00561 | |
| H番号 | H00561 |
| 名称 | 短指症-精神遅滞症候群; 2q37 欠失症候群 |
| 概要 | Brachydactyly mental retardation syndrome (BDMR), also known as Albright hereditary osteodystrophy-like syndrome, is a complex disorder characterized by brachydactyly and mental retardation including autism spectrum disorder. It has been confirmed that this disease is associated with some deletions of 2q37. Individuals with BDMR and Smith-Magenis syndrome (SMS) have very similar features. Mutation of the BDMR-causative gene HDAC4 results in reduced expression of RAI1, whose haploinsufficiency leads to SMS. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | HDAC4 [HSA:9759] [KO:K11406] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H1791 Smith-Magenis syndrome. For Albright hereditary osteodystrophy, see H00501. |
| リンク | ICD-11: LD44.20 ICD-10: Q93.5 MeSH: C538317 OMIM: 600430 |
| 文献 | PMID:20691407 著者 Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH タイトル Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems. 雑誌 Am J Hum Genet 87:219-28 (2010) DOI:10.1016/j.ajhg.2010.07.011 PMID:7847374 著者 Wilson LC, Leverton K, Oude Luttikhuis ME, Oley CA, Flint J, Wolstenholme J, Duckett DP, Barrow MA, Leonard JV, Read AP, et al. タイトル Brachydactyly and mental retardation: an Albright hereditary osteodystrophy-like syndrome localized to 2q37. 雑誌 Am J Hum Genet 56:400-7 (1995) |