KEGG   DISEASE: Rubinstein-Taybi syndrome
Entry
H00504                      Disease                                
Name
Rubinstein-Taybi syndrome
Description
Rubinstein-Taybi syndrome is an autosomal dominant disorder with distinctive facial features, broad thumbs and toes, and mental retardation. Mutations in CREBBP and EP300 have been reported in the syndrome.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H00504  Rubinstein-Taybi syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00504  Rubinstein-Taybi syndrome
Related
pathway
hsa04330  Notch signaling pathway
hsa04922  Glucagon signaling pathway
hsa04068  FoxO signaling pathway
Gene
CREBBP [HSA:1387] [KO:K04498]
EP300 [HSA:2033] [KO:K04498]
Other DBs
ICD-11: LD2F.1Y
ICD-10: Q87.2
MeSH: D012415
OMIM: 180849 613684
Reference
PMID:7630403
  Authors
Petrij F, Giles RH, Dauwerse HG, Saris JJ, Hennekam RC, Masuno M, Tommerup N, van Ommen GJ, Goodman RH, Peters DJ, et al.
  Title
Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP.
  Journal
Nature 376:348-51 (1995)
DOI:10.1038/376348a0
Reference
PMID:16021471
  Authors
Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S
  Title
DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS.
  Journal
Hum Genet 117:485-93 (2005)
DOI:10.1007/s00439-005-1331-y
Reference
PMID:17942008
  Authors
Roelfsema JH, Peters DJ
  Title
Rubinstein-Taybi syndrome: clinical and molecular overview.
  Journal
Expert Rev Mol Med 9:1-16 (2007)
DOI:10.1017/S1462399407000415

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  All links  
Disease (2)   
   OMIM (2)   
Gene (3)   
   KEGG ORTHOLOGY (1)   
   KEGG GENES (2)   
Literature (3)   
   PubMed (3)   
All databases (8)   

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