KEGG   DISEASE: Rienhoff syndromeHelp
H01385                      Disease                                

Rienhoff syndrome
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.
Congenital malformation
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
hsa04010  MAPK signaling pathway
hsa04068  FoxO signaling pathway
hsa04110  Cell cycle
hsa04350  TGF-beta signaling pathway
hsa04390  Hippo signaling pathway
TGFB3 [HSA:7043] [KO:K13377]
Other DBs
ICD-11: LD28.0Y
ICD-10: Q87.4
OMIM: 615582
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
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.
Am J Med Genet A 161A:2040-6 (2013)

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