ORPHA:100078

Ileal neuroendocrine tumor

Synonyms: Ileal neuroendocrine neoplasm

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

Ileal neuroendocrine tumor is a rare, primary, malignant, epithelial neoplasm of the small intestine arising from enterochromaffin cells in the ileum (usually the terminal ileum). Clinical behavior depends on the histologic grade, but initially it is generally characterized by vague abdominal symptoms (cramping, bloating, diarrhea) with insidious onset, although sometimes it could present with signs of bowel obstruction/perforation or gastrointestinal bleeding. Diagnosis in advanced stages with regional or distant spread is common, but signs of carcinoid syndrome (flushing, sweating, diarrhea) are usually not apparent until hepatic metastasis has occurred.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Ileal neuroendocrine tumor	Ileal neuroendocrine neoplasm
fr	Tumeur neuroendocrine de l'iléon	Néoplasme neuroendocrine de l'iléon
de	Tumor, neuroendokriner, des Ileums	Ileale neuroendokrine Neoplasie
es	Tumor neuroendocrino ileal	Neoplasia neuroendocrina ileal
it	Tumore neuroendocrino dell'ileo
nl	Neuro-endocriene tumor van ileum	Ileale neuro-endocriene tumor · Neuro-endocrien neoplasma van ileum · Neuro-endocriene tumor van kronkeldarm
pt	Tumor endócrino do íleo
pl	Guz neuroendokrynny jelita krętego	Nowotwór neuroendokrynny jelita krętego
cs	Ileální endokrinní nádor	= en
uk	Нейроендокринна пухлина клубової кишки	Нейроендокринне новоутворення клубової кишки
zh	回肠神经内分泌肿瘤	回肠神经内分泌瘤
tr	İleal nöroendokrin tümör	İleal nöroendokrin neoplazm

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	C17.2	NTBT	attributed	validated
ICD-11	2B80.11	NTBT	attributed	validated
MONDO	0015065	E		validated
UMLS	C4081841	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:423975Neuroendocrine tumor of the small intestine
rare gastroenterological diseases; rare endocrine diseases; rare neoplastic diseases; rare transplant-related disorders

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

0 records

No prevalence record in this release.

HPO phenotypes

31 annotations · validated 2017-09-27

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0006722	Small intestine carcinoid
Very frequent (99-80%)
HP:0001005	Dermatological manifestations of systemic disorders
HP:0002574	Episodic abdominal pain
HP:0003144	Increased serum serotonin
HP:0002254	Intermittent diarrhea
Frequent (79-30%)
HP:0030142	Abnormal bowel sounds
HP:0025324	Arterial occlusion
HP:0012432	Chronic fatigue
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003148	Elevated serum acid phosphatase
HP:0002572	Episodic vomiting
HP:0012334	Extrahepatic cholestasis
HP:0005249	Functional intestinal obstruction
HP:0004796	Gastrointestinal obstruction
HP:0001891	Iron deficiency anemia
HP:0002716	Lymphadenopathy
HP:0002018	Nausea
HP:0001824	Weight loss
Occasional (29-5%)
HP:0100819	Intestinal fistula
Very rare (<4-1%)
HP:0025426	Abnormal bronchus morphology
HP:0011675	Arrhythmia
HP:0030149	Cardiogenic shock
HP:0000969	Edema
HP:0001399	Hepatic failure
HP:0000126	Hydronephrosis
HP:0002615	Hypotension
HP:0001962	Palpitations
HP:0001642	Pulmonic stenosis
HP:0001708	Right ventricular failure
HP:0010446	Tricuspid stenosis
HP:0002044	Zollinger-Ellison syndrome

Run the differential on the 5 obligate / very frequent terms

Annotation source: 22052063[PMID]_9070484[PMID]_18097129[PMID]_18097129[PMID]_22997445[PMID]_22262004[PMID]_18941127[PMID]_26511392[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/100078
This record as JSON: /data/d/100078.json