Details of Disease

General Information of Disease (ID: DISC6GHQ)

Disease Name Familial rhabdoid tumor
Synonyms
familial rhabdoid tumor; hereditary rhabdoid tumour; hereditary rhabdoid tumor; familial posterior fossa brain tumour syndrome of infancy; RTPS; rhabdoid tumour predisposition syndrome; rhabdoid predisposition syndrome; rhabdoid tumor predisposition syndrome; familial posterior fossa brain tumor syndrome of infancy
Definition
A neoplastic syndrome most often caused by mutations in the hSNF5/INI1 tumor suppressor gene. It is characterized by the development of an atypical teratoid/rhabdoid tumor in infancy and early childhood. This highly aggressive tumor develops in the central nervous system as an isolated lesion or in combination with extrarenal or renal rhabdoid tumor. Patients may also develop other central nervous system malignancies including medulloblastoma, supratentorial primitive neuroectodermal tumor, and choroid plexus carcinoma.
Disease Hierarchy
DIS46HZU: Malignant rhabdoid tumour
DISGXLG5: Hereditary neoplastic syndrome
DISC6GHQ: Familial rhabdoid tumor
Disease Identifiers
MONDO ID
MONDO_0016473
UMLS CUI
C2985524
MedGen ID
457750
Orphanet ID
231108
SNOMED CT ID
772130002

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 Limited Genetic Variation [1]
SMARCA4 TTVQEZS Supportive Autosomal dominant [2]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SMARCA4 OT68WOPQ Supportive Autosomal dominant [2]
SMARCB1 OT2LP7LJ Supportive Autosomal dominant [3]
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References

1 Loss of BRG1 (SMARCA4) Immunoexpression in a Pediatric Non-Central Nervous System Tumor Cohort.Pediatr Dev Pathol. 2020 Mar-Apr;23(2):132-138. doi: 10.1177/1093526619869154. Epub 2019 Aug 12.
2 Germline nonsense mutation and somatic inactivation of SMARCA4/BRG1 in a family with rhabdoid tumor predisposition syndrome. Am J Hum Genet. 2010 Feb 12;86(2):279-84. doi: 10.1016/j.ajhg.2010.01.013. Epub 2010 Feb 4.
3 Constitutional mutations of the hSNF5/INI1 gene predispose to a variety of cancers. Am J Hum Genet. 1999 Nov;65(5):1342-8. doi: 10.1086/302639.