Clear cell renal carcinoma
Synonyms: CCRCC · Clear cell renal cell adenocarcinoma · Clear cell renal cell carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult, Elderly
- Status
- active
A rare renal tumor arising from proximal tubular epithelial cells of the renal cortex, characterized histologically by malignant epithelial cells with typical clear cytoplasm in conventional staining methods due to a high glycogen and lipid content, featuring a nested growth pattern. Clinically it may present with hematuria, flank pain, anemia or, less commonly, a palpable abdominal mass.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Clear cell renal carcinoma | CCRCC · Clear cell renal cell adenocarcinoma · Clear cell renal cell carcinoma |
| fr | Carcinome rénal à cellules claires | Adénocarcinome rénal à cellules claires · CCRCC |
| de | Nierenzellkarzinom, klarzelliges | CCRCC · Klarzelliges Adenokarzinom der Niere · NZK, klarzelliges |
| es | Carcinoma renal de células claras | Adenocarcinoma renal de células claras · CCRCC · Carcinoma de células renales de células claras |
| it | Carcinoma renale a cellule chiare | Adenocarcinoma a cellule chiare · Adenocarcinoma a cellule renali chiare · CCRCC · Carcinoma a cellule renali chiare |
| nl | Heldercellig renaal carcinoom | CCRCC · Heldercellig adenocarcinoom · Heldercellig nierceladenocarcinoom · Heldercellig niercelcarcinoom |
| pt | Carcinoma renal de células claras | |
| pl | Jasnokomórkowy rak nerki | CCRCC · Jasnokomórkowy gruczolakorak |
| cs | Karcinom ledviny ze světlých buněk | CCRCC · Adenokarcinom ze světlých buněk · Adenokarcinom ze světlých renálních buněk · Světlobuněčný karcinom ledviny |
| uk | Рідкоклітинний рак нирки | CCRCC · Нирковоклітинна аденокарцинома · Нирковоклітинний рак нирки з прозорими клітинами |
| zh | 透明细胞肾癌 | 透明细胞肾细胞腺癌 |
| tr | Berrak hücreli böbrek karsinomu | CCRCC · Berrak hücreli böbrek hücreli karsinom · Berrak hücreli 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 | XH46F1 | E | specific | validated |
| MONDO | 0005005 | E | validated | |
| UMLS | C0279702 | E | validated | |
| GARD | 9574 | E | validated | |
| MedDRA | 10073251 | 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
Genes
0 direct · 4 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HNF1A | ORPHA:404511Clear cell papillary renal cell carcinoma | Biomarker tested in | Not yet assessed | HGNC:11621 | ENSG00000135100 | 142410 | 12q24.31 | HNF1 homeobox A | 8620471[PMID]_15649945[PMID] |
| MITF | ORPHA:404511Clear cell papillary renal cell carcinoma | Major susceptibility factor in | Assessed | HGNC:7105 | ENSG00000187098 | 156845 | 3p13 | melanocyte inducing transcription factor | 22012259[PMID] |
| PBRM1 | ORPHA:404511Clear cell papillary renal cell carcinoma | Major susceptibility factor in | Assessed | HGNC:30064 | ENSG00000163939 | 606083 | 3p21.1 | polybromo 1 | 25911086[PMID] |
| TMEM127 | ORPHA:404511Clear cell papillary renal cell carcinoma | Major susceptibility factor in | Assessed | HGNC:26038 | ENSG00000135956 | 613403 | 2q11.2 | transmembrane protein 127 | 24334765[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 1.99 / 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/319276
- This record as JSON: /data/d/319276.json