Details of Disease

General Information of Disease (ID: DIS8TFX5)

Disease Name Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Synonyms
Rubinstein-Taybi syndrome 2; RSTS2; Rubinstein-Taybi syndrome caused by mutation in EP300; Rubinstein-Taybi syndrome type 2; EP300 Rubinstein-Taybi syndrome; Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Definition Any Rubinstein-Taybi syndrome in which the cause of the disease is a mutation in the EP300 gene.
Disease Hierarchy
DISVF1HM: Rubinstein-Taybi syndrome
DIS8TFX5: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Disease Identifiers
MONDO ID
MONDO_0013364
UMLS CUI
C3150941
OMIM ID
613684
MedGen ID
462291
Orphanet ID
353284

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
EP300 TTGH73N Strong Genetic Variation [1]
EP300 TTGH73N Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EP300 OTL8QJDX Definitive Autosomal dominant [2]
------------------------------------------------------------------------------------

References

1 Comprehensive genomic analysis of patients with disorders of cerebral cortical development. Eur J Hum Genet. 2018 Aug;26(8):1121-1131. doi: 10.1038/s41431-018-0137-z. Epub 2018 Apr 30.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.