KEGG   DISEASE: Cardiospondylocarpofacial syndrome
Entry
H02226                      Disease                                

Name
Cardiospondylocarpofacial syndrome;
Forney syndrome
Description
Cardiospondylocarpofacial (CSCF) syndrome is characterized by growth retardation, dysmorphic facial features, brachydactyly with carpal-tarsal fusion and extensive posterior cervical vertebral synostosis, cardiac septal defects with valve dysplasia, and deafness with inner ear malformations. It has been reported that mutations in MAP3K7, encoding TGF-beta-activated kinase 1 (TAK1), cause this disease.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H02226  Cardiospondylocarpofacial syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2H  Syndromic genetic deafness
    H02226  Cardiospondylocarpofacial syndrome
Gene
MAP3K7 [HSA:6885] [KO:K04427]
Other DBs
ICD-11: LD2H.Y
ICD-10: Q87.5
OMIM: 157800
Reference
  Authors
Le Goff C, Rogers C, Le Goff W, Pinto G, Bonnet D, Chrabieh M, Alibeu O, Nistchke P, Munnich A, Picard C, Cormier-Daire V
  Title
Heterozygous Mutations in MAP3K7, Encoding TGF-beta-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.
  Journal
Am J Hum Genet 99:407-13 (2016)
DOI:10.1016/j.ajhg.2016.06.005
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