| H01877 | |
| H番号 | H01877 |
| 名称 | 15q13.3 微細欠失症候群 |
| 概要 | Chromosome 15q13.3 microdeletion syndrome causes a spectrum of cognitive disorders. The syndrome is caused by microdeletions in the 15q13.2q-13.3 region. This chromosomal region contains seven genes and is flanked by a breakpoint (BP) on each side. About 80% of patients with this syndrome have one or more neuropsychiatric diagnoses, including developmental disability/intellectual disability, autism spectrum disorder, speech problems, and attention deficit hyperactivity disorder (ADHD). The neuropsychiatric phenotypes of 15q13.3 microdeletion syndrome have been proposed to be caused by haploinsufficiency of CHRNA7, which is one of the seven genes. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | CHRNA7 [HSA:1139] [KO:K04809] KLF13 [HSA:51621] [KO:K09208] TRPM1 [HSA:4308] [KO:K04976] FAN1 [HSA:22909] [KO:K15363] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | Other genes in the critical deleted region: MTMR10, MIR211, OTUD7A |
| リンク | ICD-11: LD44.F ICD-10: Q93.5 MeSH: C567439 OMIM: 612001 |
| 文献 | PMID:26754479 著者 Crutcher E, Ali M, Harrison J, Sovago J, Gomez-Mancilla B, Schaaf CP タイトル Assessment of Cognitive Outcome Measures in Teenagers with 15q13.3 Microdeletion Syndrome. 雑誌 J Autism Dev Disord 46:1455-63 (2016) DOI:10.1007/s10803-015-2694-0 PMID:24824131 著者 Tropeano M, Andrieux J, Vassos E, Collier DA タイトル Clinical utility gene card for: 15q13.3 microdeletion syndrome. 雑誌 Eur J Hum Genet 22:ejhg201488 (2014) DOI:10.1038/ejhg.2014.88 |