Details of Disease | DrugMAP

General Information of Disease (ID: DISDIJXV)

Disease Name	Rhabdoid tumor predisposition syndrome 1
Synonyms	At/RT; RTPS1; brain tumor, posterior fossa, of infancy, familial; teratoid tumor, atypical; malignant rhabdoid tumor, somatic; rhabdoid tumor predisposition syndrome 1; rhabdoid tumors, somatic; SMARCB1 familial rhabdoid tumor; SMARCB1 familial rhabdoid tumour; familial rhabdoid tumor caused by mutation in SMARCB1; familial rhabdoid tumour caused by mutation in SMARCB1; rhabdoid tumor predisposition syndrome type 1; rhabdoid tumour predisposition syndrome type 1
Definition	Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.
Disease Hierarchy	DISC6GHQ: Familial rhabdoid tumor DISDIJXV: Rhabdoid tumor predisposition syndrome 1
Disease Identifiers	MONDO ID MONDO_0012252 MESH ID C563738 UMLS CUI C1836327 OMIM ID 609322 MedGen ID 322892

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SMARCB1	OT2LP7LJ	Definitive	Autosomal dominant	[1]
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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.