Renal cell carcinoma, xp11-associated

Preferred Label : Renal cell carcinoma, xp11-associated;

Symbol : RCCX1;

CISMeF acronym : RCCX1;

Type : Phenotype, molecular basis known;

Description : Xp11 translocation renal cell carcinomas (RCCX1) are a group of neoplasms distinguished by chromosomal translocations with breakpoints involving the TFE3 gene within tumor cells. The result is a TFE3 transcription factor gene fusion with 1 of multiple reported genes including ASPRCR1 (606236) on chromosome 17q25 and PRCC (179755) on 1q21, and more rarely, NONO (300084) on Xq13, SFPQ (605199) on 1p34,;

Prefixed ID : #300854;

Details

Origin ID

300854;

UMLS CUI

C3275446;

Automatic exact mappings (from CISMeF team)
- MiT family translocation renal cell carcinoma [ORDO Disease]
- TFE3 wt Allele [NCIt concept]
DO Cross reference
- renal cell carcinoma [DO Concept]
Genes related to phenotype
- Transcription factor for immunoglobulin heavy-chain enhancer 3 [OMIM gene]
HPO term(s)
- Renal cell carcinoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- MiT family translocation renal cell carcinoma [ORDO Disease]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients