Familial papillary renal cell carcinoma

General Information (adopted from Orphanet):

Synonyms, Signs: RCCP1
Number of Symptoms 3
OrphanetNr: 47044
OMIM Id: 605074
ICD-10: C64
UMLs: C2931899
MeSH: C538614
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inherited renal cell cancer-predisposing syndrome
 -Rare genetic disease
 -Rare oncologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
(HPO:0006766) Papillary renal cell carcinoma 2 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
3
(HPO:0003829) Incomplete penetrance 85 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...

Clinical Description OMIM In a review of 224 renal cell carcinomas, Mancilla-Jimenez et al. (1976) found that 34 were papillary and 190 of other histologic types. The majority of papillary tumors (85.3%) were in pathologic stage I, whereas more than half ...
Molecular genetics OMIM Heterozygous germline mutations in the MET tyrosine kinase gene on 7q32 were detected in families with hereditary RCCP (see, e.g., 164860.0001) and also in cells of some sporadic tumors (164860.0006); see Schmidt et al. (1997) and Zhuang et ...