KEGG   DISEASE: Rienhoff syndromeHelp
Entry
H01385                      Disease                                

Name
Rienhoff syndrome
Description
Rienhoff syndrome is a congenital syndrome presenting at birth with distal arthrogryposis, hypotonia, bifid uvula, and a failure of normal post-natal muscle development but no evidence of vascular disease. A mutation in TGFB3 was identified suggesting that decreased TGF-beta signaling from a loss of TGFB3 activity is likely responsible for the clinical phenotype.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01385  Rienhoff syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD28  Syndromes with connective tissue involvement as a major feature
    H01385  Rienhoff syndrome
BRITE hierarchy
Pathway
hsa04010  MAPK signaling pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
Gene
TGFB3 [HSA:7043] [KO:K13377]
Other DBs
ICD-11: LD28.0Y
ICD-10: Q87.4
OMIM: 615582
Reference
  Authors
Rienhoff HY Jr, Yeo CY, Morissette R, Khrebtukova I, Melnick J, Luo S, Leng N, Kim YJ, Schroth G, Westwick J, Vogel H, McDonnell N, Hall JG, Whitman M
  Title
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with Marfan and Loeys-Dietz syndrome.
  Journal
Am J Med Genet A 161A:2040-6 (2013)
DOI:10.1002/ajmg.a.36056

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