Primary hepatic neuroendocrine carcinoma
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Adult
- Status
- active
Primary hepatic neuroendocrine carcinoma (PHNEC) is a rare hepatic tumor that may manifest with abdominal pain or fullness, as well as diarrhea or weight loss. More than 10% of cases are asymptomatic and in rare cases a carcinoid syndrome may be observed.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary hepatic neuroendocrine carcinoma | |
| fr | Carcinome neuroendocrine hépatique primaire | |
| de | Tumor, neuroendokriner, primär hepatischer | |
| es | Carcinoma neuroendocrino hepático primario | |
| it | Tumore endocrino epatico | |
| nl | Primair neuro-endocrien carcinoom van lever | Primair hepatisch neuro-endocrien carcinoom |
| pt | Tumor endócrino hepático | |
| pl | Pierwotny neuroendokrynny guz wątroby | |
| cs | Primární neuroendokrinní karcinom jater | Primární jaterní karcinoid |
| uk | Первинна нейроендокринна карцинома печінки | |
| zh | 原发性肝神经内分泌癌 | |
| tr | Primer hepatik nöroendokrin karsinom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C22.7 | NTBT | attributed | validated |
| ICD-11 | 2C12.0Y | NTBT | attributed | validated |
| MONDO | 0015072 | E | validated | |
| UMLS | C3273031 | E | validated | |
| GARD | 19760 | 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 (3):
- ORPHA:100101Neuroendocrine tumor with other location
rare endocrine diseases; rare neoplastic diseases - ORPHA:506210Rare disorder potentially indicated for liver transplant
rare transplant-related disorders - ORPHA:424933Rare malignant epithelial tumor of liver and intrahepatic biliary tract
rare hepatic diseases; rare neoplastic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Annual incidence | 1-9 / 1 000 000 | 0.2 / 100 000 | Worldwide | Value and class | Validated | 8227395[PMID]_24944650[PMID]_ [EXPERT] |
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
38 annotations · validated 2017-11-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Obligate (100%) | ||
| HP:0002896 | Neoplasm of the liver | |
| HP:0100634 | Neuroendocrine neoplasm | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0002039 | Anorexia | |
| HP:0001541 | Ascites | |
| HP:0012432 | Chronic fatigue | |
| HP:0002730 | Chronic noninfectious lymphadenopathy | |
| HP:0002014 | Diarrhea | |
| HP:0002094 | Dyspnea | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002574 | Episodic abdominal pain | |
| HP:0002240 | Hepatomegaly | |
| HP:0002018 | Nausea | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:4000007 | Bronchoconstriction | |
| HP:0100570 | Carcinoid tumor | |
| HP:0025474 | Erythematous plaque | |
| HP:0007380 | Facial telangiectasia | |
| HP:0030148 | Heart murmur | |
| HP:0001407 | Hepatic cysts | |
| HP:0002480 | Hepatic encephalopathy | |
| HP:0003144 | Increased serum serotonin | |
| HP:0030166 | Night sweats | |
| HP:0001962 | Palpitations | |
| HP:0001708 | Right ventricular failure | |
| Very rare (<4-1%) | ||
| HP:0012658 | Abnormal brain FDG positron emission tomography | |
| HP:0005230 | Biliary tract obstruction | |
| HP:0010638 | Elevated alkaline phosphatase of hepatic origin | |
| HP:0030948 | Elevated gamma-glutamyltransferase level | |
| HP:0001046 | Intermittent jaundice | |
| HP:0006575 | Intrahepatic cholestasis with episodic jaundice | |
| HP:0100012 | Neoplasm of the eye | |
| HP:0100526 | Neoplasm of the lung | |
| HP:0004375 | Neoplasm of the nervous system | |
| HP:0000508 | Ptosis | |
| HP:0007663 | Reduced visual acuity | |
| Excluded (0%) | ||
| HP:0006254 | Elevated alpha-fetoprotein | |
| HP:0031029 | Elevated carcinoembryonic antigen level | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 8453589[PMID]_19031017[PMID]_20133228[PMID]_21329891[PMID]_24761861[PMID]_25051214[PMID]_26882787[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/100085
- This record as JSON: /data/d/100085.json