Familial gastric type 1 neuroendocrine tumor
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
A rare neoplastic disease characterized by occurrence of atypical and aggressive gastric type 1 neuroendocrine tumors (NET) in early adulthood. The tumors often show nodal infiltration requiring total gastrectomy. Synchronous gastric adenocarcinoma has also been reported. Patients present high serum gastrin concentrations and iron-deficiency anemia (rather than megaloblastic anemia, which is a typical feature in patients with sporadic gastric type 1 NET, where the tumor usually arises on the background of autoimmune atrophic gastritis).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial gastric type 1 neuroendocrine tumor | |
| fr | Tumeur neuroendocrine de l'estomac de type 1, forme familiale | Tumeur neuroendocrine gastrique de type 1, forme familiale |
| de | Familiärer neuroendokriner Magentumor Typ 1 | Gastrischer neuroendokriner Tumor, familiärer, Typ 1 · Typ-1-NET des Magens |
| es | Tumor neuroendocrino gástrico familiar tipo 1 | |
| it | Tumore neuroendocrino gastrico familiare tipo 1 | |
| nl | Familiale neuro-endocriene tumor van maag type 1 | Familiale neuro-endocriene maagtumor type 1 |
| pt | Tumor neuroendócrino gástrico familiar de tipo 1 | |
| pl | Rodzinny guz neuroendokrynowy żołądka typu 1 | |
| cs | Familiární neuroendokrinní tumor žaludku, typ 1 | |
| uk | Сімейна нейроендокринна пухлина шлунка, тип 1 | |
| zh | 家族性胃神经内分泌肿瘤1型 | |
| tr | Ailesel mide tip 1 nöroendokrin tümörü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C16.9 | NTBT | attributed | validated |
| ICD-11 | 2B72.1 | NTBT | attributed | validated |
| MONDO | 0018742 | E | validated | |
| UMLS | C5681095 | 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:63443Rare epithelial tumor of stomach
rare gastroenterological diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP4A | Disease-causing germline mutation(s) in | Assessed | HGNC:819 | ENSG00000105675 | 137216 | 19q13.12 | ATPase H+/K+ transporting subunit alpha | 25678551[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 25678551[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25678551[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/464756
- This record as JSON: /data/d/464756.json