Rhabdoid tumor predisposition syndrome 1

Preferred Label : Rhabdoid tumor predisposition syndrome 1;

Symbol : RTPS1;

CISMeF acronym : RDT; RTPS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Brain tumor, posterior fossa, of infancy, familial;

Included titles and symbols : Malignant rhabdoid tumor, somatic; Rhabdoid tumor; Teratoid tumor, atypical; At/rt; RDT;

Description : The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999). Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0001);

Neoplasia : Rhabdoid tumors, malignant (renal or extrarenal); Atypical teratoid tumors; Choroid plexus carcinoma; Medulloblastoma;

Prefixed ID : #609322;

Details

Origin ID

609322;

UMLS CUI

C1836327;

Automatic exact mappings (from CISMeF team)
- Atypical Teratoid/Rhabdoid Tumor [NCIt concept]
- Atypical teratoid rhabdoid tumor [ORDO Disease]
- Familial rhabdoid tumor [ORDO Disease]
- Malignant rhabdoid tumor (morphologic abnormality) [SNOMED CT concept]
- SMARCB1 wt Allele [NCIt concept]
- SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 [ORDO Gene]
- atypical teratoid rhabdoid tumor [DO Concept]
- malignant rhabdoid tumor, somatic [MeSH concept]
- rhabdoid cancer [DO Concept]
- rhabdoid sarcoma [SNOMED Notion]
- teratoid tumor, atypical [MeSH concept]
- teratoid tumor, atypical [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Rhabdoid Tumor Predisposition Syndrome 1 [NCIt concept]
DO Cross reference
- atypical teratoid rhabdoid tumor [DO Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Choroid plexus carcinoma [HPO term]
- Medulloblastoma [HPO term]
ORDO concept(s)
- Atypical teratoid rhabdoid tumor [ORDO Disease]
- Familial rhabdoid tumor [ORDO Disease]
- Rhabdoid tumor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhabdoid Tumor Predisposition Syndrome 1 [NCIt concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH Supplementary Concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH concept]
Validated automatic mappings to NTBT
- Rhabdoid Tumor [NCIt concept]
- Rhabdoid tumor [ORDO Disease]
- Rhabdoid tumor [PASCAL descriptor]
- Rhabdoid tumor [MedDRA LLT]
- Rhabdoid tumour [MedDRA Preferred Term]
- rhabdoid tumor [Disease (Nov.)]
- rhabdoid tumor [MeSH concept]
- rhabdoid tumor [MeSH Descriptor]
- rhabdoid tumor predisposition syndrome 1 [MeSH concept]
- rhabdoid tumor predisposition syndrome 1 [MeSH Supplementary Concept]

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