Preferred Label : Renal cell carcinoma, papillary, 1;
Symbol : RCCP1;
CISMeF acronym : RCCP1;
Type : Phenotype, molecular basis known;
Description : Hereditary papillary renal cell carcinoma is characterized by the development of multiple,
bilateral papillary renal tumors (Zbar et al., 1995). The transmission pattern is
consistent with autosomal dominant inheritance with incomplete penetrance. Papillary
renal cell carcinoma is histologically and genetically distinct from 2 other forms
of inherited renal carcinoma, von Hippel Lindau disease (193300), caused by mutation
in the VHL gene (608537) on chromosome 3, and a form associated with the chromosome
translocation t(3;8), as described by Cohen et al. (1979). Bodmer et al. (2002) reviewed
the molecular genetics of familial and nonfamilial cases of renal cell carcinoma,
including the roles of VHL, MET, and translocations involving chromosomes 1, 3, and
X. For background information and a discussion of genetic heterogeneity of nonpapillary
renal cell carcinoma, see RCC (144700). See also a hereditary syndrome of predisposition
to uterine leiomyomas and papillary renal cell carcinoma (HLRCC; 150800) caused by
germline mutation in the FH gene (136850).;
Prefixed ID : #605074;
Origin ID : 605074;
UMLS CUI : C1336839;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
