Details of Disease | DrugMAP

General Information of Disease (ID: DISVN4LS)

Disease Name	Rhabdoid tumor predisposition syndrome 2
Synonyms	RTPS2; SMARCA4 familial rhabdoid tumor; familial rhabdoid tumour caused by mutation in SMARCA4; rhabdoid tumor predisposition syndrome type 2; SMARCA4 familial rhabdoid tumour; familial rhabdoid tumor caused by mutation in SMARCA4; rhabdoid tumour predisposition syndrome type 2; rhabdoid tumor predisposition syndrome 2
Definition	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene.
Disease Hierarchy	DISD715V: Hereditary neurological disease DIS1FA0D: Atypical teratoid/rhabdoid tumour DISC6GHQ: Familial rhabdoid tumor DISVN4LS: Rhabdoid tumor predisposition syndrome 2
Disease Identifiers	MONDO ID MONDO_0013224 MESH ID C567643 UMLS CUI C2750074 OMIM ID 613325 MedGen ID 413749

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
SMARCA4	TTVQEZS	Definitive	Autosomal dominant	[1]
SMARCA4	TTVQEZS	Definitive	Genetic Variation	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCA4	OT68WOPQ	Definitive	Autosomal dominant	[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.
2	Small cell carcinoma of the ovary, hypercalcemic type, displays frequent inactivating germline and somatic mutations in SMARCA4.Nat Genet. 2014 May;46(5):427-9. doi: 10.1038/ng.2928. Epub 2014 Mar 23.