| H00685 | |
| H number | H00685 |
| Name | Bifid nose with or without anorectal and renal anomalies; BNAR syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | FREM1 [HSA:158326] [KO:K23380] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C535441 OMIM: 608980 |
| Reference | PMID:19732862 AUTHORS Alazami AM, Shaheen R, Alzahrani F, Snape K, Saggar A, Brinkmann B, Bavi P, Al-Gazali LI, Alkuraya FS TITLE FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome. JOURNAL Am J Hum Genet 85:414-8 (2009) DOI:10.1016/j.ajhg.2009.08.010 PMID:11822703 AUTHORS Al-Gazali LI, Bakir M, Hamud OA, Gerami S TITLE An autosomal recessive syndrome of nasal anomalies associated with renal and anorectal malformations. JOURNAL Clin Dysmorphol 11:33-8 (2002) DOI:10.1097/00019605-200201000-00007 |