ORPHA:47044
Hereditary papillary renal cell carcinoma
Synonyms: HPRC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare familial renal cancer syndrome characterized by a predisposition for developing bilateral and multifocal classic type papillary renal cell carcinomas (formerly known as type 1 papillary renal cell carcinoma until the 2022 WHO classification of renal tumors).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary papillary renal cell carcinoma | HPRC |
| fr | Carcinome papillaire rénal héréditaire | = en |
| de | Hereditäres papilläres Nierenzellkarzinom | HPRCC · Nierenzellkarzinom, papilläres, familiäres |
| es | Carcinoma papilar renal hereditario | HPRCC |
| it | Carcinoma papillare ereditario delle cellule renali | = en |
| nl | Hereditair papillair niercelcarcinoom | Erfelijk papillair niercelcarcinoom · HPRC |
| pt | Carcinoma renal papilar hereditário | = en |
| pl | Dziedziczny rak brodawkowaty nerki | HPRCC |
| cs | Dědičný papilární renální karcinom | HPRCC |
| uk | Спадкова папілярна нирковоклітинна карцинома | = en |
| zh | 遗传性乳头状肾细胞癌 | HPRCC |
| tr | Kalıtsal papiller renal hücreli karsinom | HPRCC |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605074 | E | validated | |
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | 2C90.Y | NTBT | index | validated |
| MONDO | 0003789 | E | validated | |
| MeSH | C538614 | E | validated | |
| UMLS | C0879257 | E | validated | |
| MedDRA | 10067943 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:151OBSOLETE: Familial renal cell carcinoma referred to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MET | Disease-causing germline mutation(s) in | Assessed | HGNC:7029 | ENSG00000105976 | 164860 | 7q31.2 | MET proto-oncogene, receptor tyrosine kinase |
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/47044
- This record as JSON: /data/d/47044.json