Details of Disease | DrugMAP

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 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KAT6B	OTMUDTAH	Disputed	Autosomal dominant	[1]
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.