KEGG DISEASE: Rubinstein-Taybi syndrome

DISEASE: Rubinstein-Taybi syndrome

Entry

H00504                      Disease

Name

Rubinstein-Taybi syndrome

Description

Rubinstein-Taybi syndrome (RSTS) 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 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
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06523  Epigenetic regulation by Polycomb complexes
   H00504  Rubinstein-Taybi syndrome

Pathway

hsa04330

Notch signaling pathway

hsa04068

FoxO signaling pathway

Network

nt06523 Epigenetic regulation by Polycomb complexes

Gene

(RSTS1) CREBBP [HSA:1387] [KO:K04498]
(RSTS2) EP300 [HSA:2033] [KO:K04498]

Other DBs

ICD-11:

LD2F.1Y

MeSH:

D012415

OMIM:

180849 613684

Reference

PMID:7630403 (CREBBP)

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:17220215 (EP300)

Authors

Bartholdi D, Roelfsema JH, Papadia F, Breuning MH, Niedrist D, Hennekam RC, Schinzel A, Peters DJ

Title

Genetic heterogeneity in Rubinstein-Taybi syndrome: delineation of the phenotype of the first patients carrying mutations in EP300.

Journal

J Med Genet 44:327-33 (2007)
DOI:10.1136/jmg.2006.046698

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

LinkDB

» Japanese version

DISEASE: Menke-Hennekam syndrome

Entry

H02650                      Disease

Name

Menke-Hennekam syndrome

Description

Menke-Hennekam syndrome (MKHK) is a novel syndrome caused by mutations in CREBBP and EP300. Although mutations in the same genes cause Rubinstein-Taybi syndrome [DS:H00504], MKHK patients didn't show the characteristics typical for Rubinstein-Taybi syndrome. The main characteristics of the MKHK are developmental delay, autistic behavior, short stature, and microcephaly.