ORPHA:210159

Adult hepatocellular carcinoma

Synonyms: Adult HCC

Type: Disease
Group: Disorder
Inheritance: Not applicable
Age of onset: Adult, Elderly
Status: active

A rare carcinoma of the liver characterized by one to several or many nodules occurring anywhere within the liver, composed of neoplastic epithelial cells with hepatocellular differentiation. The vast majority of tumors are associated with chronic liver disease (such as hepatitis B or C, or steatohepatitis) or exposure to a variety of exogenous agents. Patients may present with signs and symptoms related to the tumor, as well as to the underlying condition. Common manifestations include right upper quadrant abdominal pain, weight loss, hepatosplenomegaly, jaundice, and ascites. Symptomatic tumors generally have poor prognosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Adult hepatocellular carcinoma	Adult HCC
fr	Carcinome hépatocellulaire de l'adulte	CHC adulte · HCC adulte
de	Hepatozelluläres Karzinom, adultes	HCC, adultes · Leberzellkrebs im Erwachsenenalter
es	Carcinoma hepatocelular del adulto	CHC del adulto
it	Carcinoma epatocellulare dell'adulto	HCC dell'adulto
nl	Volwassen hepatocellulair carcinoom	Volwassen HCC
pt	Carcinoma hepatocelular do adulto	HCC do adulto
pl	Rak wątrobowokomórkowy dorosłych	HCC dorosłych
cs	Hepatocelulární karcinom dospělých	HCC dospělých · Rakovina jater dospělých
uk	Гепатоцелюлярна карцинома дорослих	HCC у дорослих
zh	成人肝细胞癌	成人HCC
tr	Yetişkin hepatoselüler karsinom	Erişkin HCC

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	114550	NTBT		validated
ICD-10	C22.0	NTBT	attributed	validated
ICD-11	2C12.02	NTBT	attributed	validated
MONDO	0016216	E		validated
UMLS	C0279607	E		validated
GARD	6608	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:88673Hepatocellular carcinoma
rare hepatic diseases; rare neoplastic diseases; rare transplant-related disorders

No children.

Genes

9 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CTNNB1	Candidate gene tested in	Not yet assessed	HGNC:2514	ENSG00000168036	116806	3p22.1	catenin beta 1	10435629[PMID]
PDGFRL	Candidate gene tested in	Not yet assessed	HGNC:8805	ENSG00000104213	604584	8p22	platelet derived growth factor receptor like	7898930[PMID]_12653892[PMID]
TP53	Candidate gene tested in	Not yet assessed	HGNC:11998	ENSG00000141510	191170	17p13.1	tumor protein p53	8191284[PMID]
TSC1	Candidate gene tested in	Assessed	HGNC:12362	ENSG00000165699	605284	9q34.13	TSC complex subunit 1	27974549[PMID]
TSC2	Candidate gene tested in	Assessed	HGNC:12363	ENSG00000103197	191092	16p13.3	TSC complex subunit 2	27974549[PMID]
AXIN1	Disease-causing somatic mutation(s) in	Assessed	HGNC:903	ENSG00000103126	603816	16p13.3	axin 1	10700176[PMID]
CASP8	Disease-causing somatic mutation(s) in	Assessed	HGNC:1509	ENSG00000064012	601763	2q33.1	caspase 8	15531912[PMID]
PIK3CA	Disease-causing somatic mutation(s) in	Assessed	HGNC:8975	ENSG00000121879	171834	3q26.32	phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha	15608678[PMID]
EGF	Major susceptibility factor in	Assessed	HGNC:3229	ENSG00000138798	131530	4q25	epidermal growth factor	21440548[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Annual incidence	1-9 / 100 000	3.22 / 100 000	Europe	Value and class	Validated	22033323[PMID]

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/210159
This record as JSON: /data/d/210159.json