Hereditary neuroendocrine tumor of small intestine
Synonyms: Hereditary SB-NET · Hereditary SI-NET · Hereditary neuroendocrine tumor of small bowel · Small bowel hereditary neuroendocrine tumor · Small intestine hereditary neuroendocrine tumor
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare inherited cancer-predisposing syndrome characterized by occurrence of multiple synchronous primary carcinoids of the small intestine. Clinical presentation is otherwise indistinguishable from sporadic carcinoids and includes abdominal pain, flushing, and diarrhea, often becoming manifest only after a long asymptomatic period. Most patients present with low grade tumors. Occurrence of pulmonary carcinoids has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary neuroendocrine tumor of small intestine | Hereditary SB-NET · Hereditary SI-NET · Hereditary neuroendocrine tumor of small bowel · Small bowel hereditary neuroendocrine tumor · Small intestine hereditary neuroendocrine tumor |
| fr | Tumeur neuroendocrine de l'intestin grêle héréditaire | |
| de | Hereditärer neuroendokriner Tumor des Dünndarms | Familiärer karzinoider Tumor des Dünndarms · Hereditärer NET des Dünndarms |
| es | Tumor neuroendocrino hereditario del intestino delgado | |
| it | Tumore neuroendocrino ereditario dell'intestino tenue | SB-NET ereditario · SI-NET ereditario · Tumore neuroendocrino ereditario del piccolo intestino · Tumore neuroendocrino ereditario dell'intestino tenue |
| nl | Hereditaire neuro-endocriene tumor van dunne darm | Erfelijke neuro-endocriene tumor van dunne darm · Hereditaire SB-NET · Hereditaire SI-NET |
| pt | Tumor neuroendócrino hereditário do intestino delgado | SB-NET hereditário · SI-NET hereditário · Tumor neuroendócrino hereditário do intestino curto |
| pl | Dziedziczny neuroendokrynny guz jelita cienkiego | = en |
| cs | Hereditární neuroendokrinní nádor tenkého střeva | Familiární karcinoid tenkého střeva |
| uk | Спадкова нейроендокринна пухлина тонкої кишки | Спадкова нейроендокринна пухлина тонкої кишки · Спадковий SB-NET · Спадковий SI-NET · Спадкова нейроендокринна пухлина тонкої кишки · Спадкова нейроендокринна пухлина тонкої кишки |
| zh | 遗传性小肠神经内分泌肿瘤 | 遗传性小肠神经内分泌肿瘤 |
| tr | İnce bağırsağın kalıtsal nöroendokrin tümörü | İnce bağırsağın kalıtsal nöroendokrin tümörü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | C17.9 | NTBT | attributed | validated |
| ICD-11 | 2B80.21 | NTBT | attributed | validated |
| MONDO | 0018698 | E | validated | |
| UMLS | C5679993 | 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:425003Inherited digestive cancer-predisposing syndrome
rare gastroenterological diseases; rare genetic diseases; rare neoplastic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IPMK | Disease-causing germline mutation(s) in | Assessed | HGNC:20739 | ENSG00000151151 | 609851 | 10q21.1 | inositol polyphosphate multikinase | 25865046[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/456333
- This record as JSON: /data/d/456333.json