Chromophobe renal cell carcinoma
Synonyms: Chromophobe renal cell adenocarcinoma
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adult, Elderly
- Status
- active
Chromophobe renal cell carcinoma is a rare subtype of renal cell carcinoma, originating from the intercalating cells of the collecting ducts and macroscopically manifesting as a well-circumscribed, highly lobulated, solid tumor that is usually diagnosed at an early stage. It is frequently asymptomatic, or may present with nonspecific symptoms, such as weight loss, fever or fatigue. The classic presentation observed in renal tumors (hematuria, flank pain and palpable mass) is occasionally observed and usually indicates an advanced stage of the disease. It is most frequently sporadic however, several familial cases, associated with Birt-Hogg Dubé syndrome, have been described.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chromophobe renal cell carcinoma | Chromophobe renal cell adenocarcinoma |
| fr | Carcinome rénal chromophobe | Adénocarcinome rénal chromophobe |
| de | Nierenzellkarzinom, chromophobes | Chromophobes Adenokarzinom der Niere |
| es | Carcinoma de células renales cromófobo | Adenocarcinoma de células renales cromófobo |
| it | Carcinoma cromofobo delle cellule renali | Adenocarcinoma cromofobo delle cellule renali |
| nl | Chromofoob niercelcarcinoom | Chromofoob nierceladenocarcinoom |
| pt | Carcinoma de células renais cromófobas | |
| pl | Rak chromofobowy nerkowokomórkowy | = en |
| cs | Chromofobní karcinom ledviny | Chromofobní adenokarcinom ledviny |
| uk | Хромофобна нирковоклітинна карцинома | Хромофобна нирковоклітинна аденокарцинома |
| zh | 嫌色性肾细胞癌 | 嫌色性肾细胞腺癌 |
| tr | Kromofob renal hücreli karsinom | Kromofob böbrek hücreli adenokarsinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C64 | NTBT | attributed | validated |
| ICD-11 | 2C90.0 | NTBT | attributed | validated |
| ICD-11 | XH6153 | E | specific | validated |
| MONDO | 0017885 | E | validated | |
| UMLS | C1266042 | E | validated | |
| GARD | 6064 | E | validated | |
| MedDRA | 10080544 | 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:217071Renal cell carcinoma
rare renal diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
Genes
1 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] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | <1 / 1 000 000 | 0.01 / 100 000 | Europe | Value and class | Validated | RARECARE surveillance of rare cancers in Europe[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/319303
- This record as JSON: /data/d/319303.json