/rhabdoid tumor predisposition syndrome 1

rhabdoid tumor predisposition syndrome 1

Rare Disease

MONDO:0012252

Also Known As

SMARCB1 familial rhabdoid tumorSMARCB1 familial rhabdoid tumourfamilial rhabdoid tumor caused by mutation in SMARCB1familial rhabdoid tumour caused by mutation in SMARCB1rhabdoid tumor predisposition syndrome 1rhabdoid tumor predisposition syndrome type 1rhabdoid tumors, somaticrhabdoid tumour predisposition syndrome type 1At/RTRTPS1brain tumor, posterior fossa, of infancy, familialmalignant rhabdoid tumor, somaticteratoid tumor, atypical

Definition

Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

Checking for content...

Associated Genes

SMARCB1 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:609322 ↗

GARD

GARD:18318 ↗

Related Diseases

rhabdoid tumor predisposition syndrome 2

MONDO:0013224

Rare

← Back to All Diseases