Details of Disease

General Information of Disease (ID: DISPAV44)

Disease Name RASopathy
Synonyms Ras protein signal transduction disease; disorder of Ras protein signal transduction; RASopathy
Definition
Developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction.
Disease Hierarchy
DISYKSRF: Genetic disease
DISWD40R: Disease
DISPAV44: RASopathy
Disease Identifiers
MONDO ID
MONDO_0021060
UMLS CUI
C5555857
MedGen ID
1792298
Orphanet ID
536391

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
KAT6B TTH4VJL Disputed Autosomal dominant [1]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NSUN2 OTZCNM33 Disputed Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 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.