Clear cell papillary renal cell carcinoma
- Type
- Histopathological subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable
- Status
- active
Clear cell papillary renal cell carcinoma is a rare, indolent subtype of clear cell renal carcinoma, arising from epithelial cells in the renal cortex. It most frequently manifests with a well-circumscribed, well-encapsulated, unicentric, unilateral, small tumor that typically does not metastasize. Clinically it can present with flank or abdominal pain or hematuria, although most patients are usually asymptomatic at the time of diagnosis. Bilateral and/or multifocal presentation should raise the suspicion of von Hippel-Lindau syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Clear cell papillary renal cell carcinoma | |
| fr | Carcinome rénal papillaire à cellules claires | |
| de | Nierenzellkarzinom, klarzelliges papilläres | |
| es | Carcinoma renal papilar de células claras | |
| it | Carcinoma renale papillare a cellule chiare | |
| nl | Heldercellig papillair niercelcarcinoom | |
| pt | Carcinoma de células renais papilar de células claras | |
| pl | Rak nerkowokomórkowy brodawkowaty | |
| cs | Světlobuněčný renální karcinom | |
| uk | Нирковоклітинний папілярний рак нирки з прозорими клітинами | |
| zh | 透明细胞乳头状肾细胞癌 | |
| tr | Berrak hücreli papiller renal hücreli karsinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C64 | NTBT | attributed | validated |
| MONDO | 0018448 | E | validated | |
| UMLS | C4518333 | E | validated | |
| MedDRA | 10085663 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:319276Clear cell renal carcinoma
rare renal diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
4 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HNF1A | Biomarker tested in | Not yet assessed | HGNC:11621 | ENSG00000135100 | 142410 | 12q24.31 | HNF1 homeobox A | 8620471[PMID]_15649945[PMID] |
| MITF | Major susceptibility factor in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 22012259[PMID] |
| PBRM1 | Major susceptibility factor in | Assessed | HGNC:30064 | ENSG00000163939 | 606083 | 3p21.1 | polybromo 1 | 25911086[PMID] |
| TMEM127 | Major susceptibility factor in | Assessed | HGNC:26038 | ENSG00000135956 | 613403 | 2q11.2 | transmembrane protein 127 | 24334765[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404511
- This record as JSON: /data/d/404511.json