KEGG   DISEASE: Acromesomelic dysplasia, Demirhan type
Entry
H00468                      Disease                                
Name
Acromesomelic dysplasia, Demirhan type;
Acromesomelic dysplasia with genital anomalies
  Supergrp
Acromesomelic dysplasia [DS:H02543]
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
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
Pathway
hsa04350  TGF-beta signaling pathway
hsa04360  Axon guidance
hsa04390  Hippo signaling pathway
hsa04550  Signaling pathways regulating pluripotency of stem cells
Gene
BMPR1B [HSA:658] [KO:K13578]
Other DBs
ICD-11: LD24.9
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
Reference
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
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