ORPHA:422526

Hereditary clear cell renal cell carcinoma

Synonyms: Hereditary clear cell renal cell adenocarcinoma

Type: Disease
Group: Disorder
Inheritance: Unknown
Age of onset: Adult
Status: active

Hereditary clear cell renal cell carcinoma (ccRCC) is a hereditary renal cancer syndrome defined as development of ccRCC in two or more family members without evidence of constitutional chromosome 3 translocation, von Hippel-Lindau disease or other tumor predisposing syndromes associated with ccRCC, such as tuberous sclerosis or Birt-Hogg-Dubbé syndrome.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Hereditary clear cell renal cell carcinoma	Hereditary clear cell renal cell adenocarcinoma
fr	Carcinome rénal héréditaire à cellules claires	Adénocarcinome rénal héréditaire à cellules claires
de	Nierenzellkarzinom, klarzelliges, hereditäre Form	Hereditäres klarzelliges renales Adenokarzinom
es	Carcinoma renal hereditario de células claras	Adenocarcinoma renal hereditario de células claras
it	Carcinoma renale ereditario a cellule chiare	Adenocarcinoma renale ereditario a cellule chiare
nl	Erfelijk heldercellig niercelcarcinoom	Erfelijk heldercellig nierceladenocarcinoom
pt	Carcinoma das células renais hereditário de células claras
pl	Dziedziczny rak jasnokomórkowy nerki	Dziedziczny gluczolakorak jasnokomórkowy nerki
cs	Hereditární světlobuněčný karcinom ledviny	Hereditární světlobuněčný adenokarcinom ledvin
uk	Спадковий світлоклітинний рак нирки	Спадкова прозороклітинна нирковоклітинна аденокарцинома
zh	遗传性肾透明细胞癌	遗传性透明细胞肾细胞腺癌
tr	Kalıtsal berrak renal hücreli karsinomu	Kalıtsal temiz hücreli böbrek hücreli adenokarsinom

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	144700	NTBT		validated
ICD-10	C64	NTBT	attributed	validated
MONDO	0018492	E		validated
UMLS	C1333985	E		validated
GARD	9571	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):

ORPHA:250908Rare neoplastic disease

Parents in the classifications (1):

ORPHA:319328Inherited renal cancer-predisposing syndrome
rare genetic diseases; rare renal diseases; rare neoplastic diseases

No children.

Genes

7 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FLCN	Candidate gene tested in	Not yet assessed	HGNC:27310	ENSG00000154803	607273	17p11.2	folliculin	12471204[PMID]
OGG1	Candidate gene tested in	Not yet assessed	HGNC:8125	ENSG00000114026	601982	3p25.3	8-oxoguanine DNA glycosylase	10987279[PMID]
SLC49A4	Candidate gene tested in	Not yet assessed	HGNC:16628	ENSG00000138463	602773	3q21.1	solute carrier family 49 member 4	11912179[PMID]_11996788[PMID]
DIRC3	Part of a fusion gene in	Assessed	HGNC:17805	ENSG00000231672	608262	2q35	disrupted in renal carcinoma 3	12939738[PMID]
FHIT	Part of a fusion gene in	Assessed	HGNC:3701	ENSG00000189283	601153	3p14.2	fragile histidine triad diadenosine triphosphatase
HSPBAP1	Part of a fusion gene in	Assessed	HGNC:16389	ENSG00000169087	608263	3q21.1	HSPB1 associated protein 1	12939738[PMID]
RNF139	Part of a fusion gene in	Assessed	HGNC:17023	ENSG00000170881	603046	8q24.13	ring finger protein 139

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET

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/422526
This record as JSON: /data/d/422526.json