Details of Disease

General Information of Disease (ID: DISJGR7C)

Disease Name Rubinstein-Taybi syndrome due to CREBBP mutations
Synonyms
broad thumbs and great toes, characteristic facies, and mental retardation; RSTS; Rubinstein syndrome; broad thumbs and great toes, characteristic facies, and intellectual disability; broad thumb-hallux syndrome; Rubinstein-Taybi syndrome type 1; Rubinstein-Taybi syndrome 1; CREBBP Rubinstein-Taybi syndrome; RSTS1; Rubinstein-Taybi syndrome caused by mutation in CREBBP; Rubinstein-Taybi syndrome due to CREBBP mutations
Definition Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the CREBBP gene.
Disease Hierarchy
DISVF1HM: Rubinstein-Taybi syndrome
DISJGR7C: Rubinstein-Taybi syndrome due to CREBBP mutations
Disease Identifiers
MONDO ID
MONDO_0008393
UMLS CUI
C4551859
OMIM ID
180849
MedGen ID
1639327
Orphanet ID
353277

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CREBBP TTFRCTK Definitive Autosomal dominant [1]
CREBBP TTFRCTK Definitive Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CREBBP OTPA4QGM Definitive Autosomal dominant [1]
------------------------------------------------------------------------------------

References

1 Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2 CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype. Am J Med Genet A. 2016 Oct;170(10):2681-93. doi: 10.1002/ajmg.a.37800. Epub 2016 Jun 17.