 | DISEASE: Acromesomelic dysplasia, Demirhan type | Help |
| Entry | |
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| Name | Acromesomelic dysplasia, Demirhan type;Acromesomelic dysplasia with genital anomalies |
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| Supergrp | Acromesomelic dysplasia [DS:H02543] |
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| 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. |
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| Category | Congenital malformation |
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| Brite | Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies or syndromes LD24 Syndromes with skeletal anomalies as a major feature H00468 Acromesomelic dysplasia, Demirhan type BRITE hierarchy |
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| Pathway | | hsa04350 | TGF-beta signaling pathway |
| hsa04390 | Hippo signaling pathway |
| hsa04550 | Signaling pathways regulating pluripotency of stem cells |
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| Gene | BMPR1B [HSA:658] [KO:K13578] |
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| Other DBs | |
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| Reference | PMID:15805157 |
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| Authors | Demirhan O, Turkmen S, Schwabe GC, Soyupak S, Akgul E, Tastemir D, Karahan D, Mundlos S, Lehmann K |
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| Title | A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies. |
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| Journal | J Med Genet 42:314-7 (2005)DOI:10.1136/jmg.2004.023564 |
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| Reference | PMID:19790289 |
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| Authors | Mundlos S |
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| Title | The brachydactylies: a molecular disease family. |
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| Journal | Clin Genet 76:123-36 (2009)DOI:10.1111/j.1399-0004.2009.01238.x |
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