| H00468 | |
| H number | H00468 |
| Name | Acromesomelic dysplasia, Demirhan type; Acromesomelic dysplasia with genital anomalies |
| Description | Acromesomelic dysplasia with genital anomalies is a condition that shows severe limb malformation with brachydactyly. Hypogonadism is also present. It is caused by homozygous mutation of BMPR1B. |
| Category | Congenital malformation |
| Network | - |
| Gene | BMPR1B [HSA:658] [KO:K13578] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD24.9 ICD-10: Q78.8 MeSH: C537913 OMIM: 609441 |
| Reference | PMID:15805157 AUTHORS Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K TITLE A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. JOURNAL J Med Genet 42:314-7 (2005) DOI:10.1136/jmg.2004.023564 PMID:19790289 AUTHORS Mundlos S TITLE The brachydactylies: a molecular disease family. JOURNAL Clin Genet 76:123-36 (2009) DOI:10.1111/j.1399-0004.2009.01238.x |