| H00685 | |
| H番号 | H00685 |
| 名称 | BNAR 症候群 |
| 概要 | BNAR syndrome is an autosomal recessive condition of nasal anomalies associated with renal and anorectal malformations. Patients have renal agenesis, anorectal malformations ranging from anteriorly placed anus with stenosis to rectal atresia, and overlapping toes. The syndrome is caused by mutations in FREM1 that encodes an extracellular matrix component of basement membranes. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | FREM1 [HSA:158326] [KO:K23380] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C535441 OMIM: 608980 |
| 文献 | PMID:19732862 著者 Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS タイトル FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. 雑誌 Am J Hum Genet 85:414-8 (2009) DOI:10.1016/j.ajhg.2009.08.010 PMID:11822703 著者 Al-Gazali LI, Bakir M, Hamud OA, Gerami S タイトル An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. 雑誌 Clin Dysmorphol 11:33-8 (2002) DOI:10.1097/00019605-200201000-00007 |