ORPHA:33402
Pediatric hepatocellular carcinoma
Synonyms: Childhood-onset HCC · Childhood-onset hepatocellular carcinoma · Pediatric HCC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adolescent, Childhood
- Status
- active
A rare, aggressive and malignant hepatic tumor arising from the hepatocytes. It develops mainly in children over 10 years of age, either in a cirrhotic background, or more commonly in a non-cirrhotic background (70% of cases).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pediatric hepatocellular carcinoma | Childhood-onset HCC · Childhood-onset hepatocellular carcinoma · Pediatric HCC |
| fr | Hépatocarcinome de l'enfant | CHC pédiatrique · HCC de l'enfant · Hépatocarcinome pédiatrique |
| de | Karzinom, hepatozelluläres, des Kindes | |
| es | Carcinoma hepatocelular pediátrico | Carcinoma hepatocelular de inicio en la infancia · HCC de inicio en la infancia · HCC pediátrico · Hepatocarcinoma de inicio en la infancia · Hepatocarcinoma pediátrico |
| it | Carcinoma epatocellulare pediatrico | Carcinoma epatocellulare a esordio nell'infanzia · HCC a esordio nell'infanzia · HCC pediatrico |
| nl | Pediatrisch hepatocellulair carcinoom | HCC met aanvang in de kindertijd · Hepatocellulair carcinoom met aanvang in de kindertijd · Pediatrisch HCC |
| pt | Carcinoma hepatocelular pediátrico | HCC pediátrico · Carcinoma hepatocelular de início na infância · HCC de início na infância |
| pl | Dziecięcy rak wątrobowokomórkowy | Dziecięcy HCC · HCC o początkiem w wieku dziecięcym · Rak wątrobowokomórkowy o początku w wieku dziecięcym |
| cs | Hepatocelulární karcinom u dětí a adolescentů | HCC u detí a adolescentu · HCC v dětství · Hepatocelulární karcinom u dětí · HCC u dětí a adolescentů |
| uk | Дитяча гепатоцелюлярна карцинома | ГЦК, що розпочалася в дитинстві · Дитяча гепатоцелюлярна карцинома · Дитяча ГЦК |
| zh | 小儿肝细胞癌 | 儿童起病型肝细胞癌 |
| tr | Pediatrik hepatosellüler karsinom | Pediatrik HCC · Çocukluk çağı başlangıçlı HCC · Çocukluk çağı başlangıçlı hepatosellüler karsinom |
Definition in:
2
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 | 0018055 | E | validated | |
| UMLS | C0279606 | E | validated | |
| GARD | 9331 | 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:88673Hepatocellular carcinoma
rare hepatic diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
4
Genes
2 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 | 9927029[PMID] |
| MET | Disease-causing somatic mutation(s) in | Assessed | HGNC:7029 | ENSG00000105976 | 164860 | 7q31.2 | MET proto-oncogene, receptor tyrosine kinase | 9927037[PMID] |
5
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | 24439603[PMID] |
| Annual incidence | 1-9 / 1 000 000 | 0.15 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Annual incidence | <1 / 1 000 000 | — | United States | Class only | Validated | 24439603[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.
6
HPO phenotypes
9 annotations · validated 2017-07-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002027 | Abdominal pain | |
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0001395 | Hepatic fibrosis | |
| HP:0002240 | Hepatomegaly | |
| Frequent (79-30%) | ||
| HP:0410019 | Epigastric pain | |
| HP:0012378 | Fatigue | |
| HP:0002605 | Hepatic necrosis | |
| HP:0030242 | Portal vein thrombosis | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 28631359[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/33402
- This record as JSON: /data/d/33402.json