ORPHA:100081

Neuroendocrine tumor of the rectum

Synonyms: NET of the rectum · Rectal NET · Rectal neuroendocrine tumor

Type: Disease
Group: Disorder
Age of onset: Adult
Status: active

Neuroendocrine tumor of the rectum is a rare epithelial tumor of rectum arising from enterochromaffin cells, most often in the mid-rectum. The tumors are slow growing, in early stages majority are asymptomatic and are diagnosed incidentally. Later in the course, the tumor may present with rectal bleeding, abdominal or rectal pain, tenesmus, changes in bowel habits, or weight loss. In some cases it may present with carcinoid symptoms of flushing and increased gut motility.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Neuroendocrine tumor of the rectum	NET of the rectum · Rectal NET · Rectal neuroendocrine tumor
fr	Tumeur neuroendocrine du rectum	NET du rectum
de	Tumor, neuroendokriner, des Rektums	NET des Rektums · Neuroendokriner Tumor, rektaler · Rektaler NET
es	Tumor neuroendocrino de recto	TNE de recto · TNE rectal · Tumor neuroendocrino rectal
it	Tumore neuroendocrino del retto
nl	Neuro-endocriene tumor van rectum	NET van rectum · Neuro-endocriene tumor van endeldarm · Rectale NET · Rectale neuro-endocriene tumor
pt	Tumor endócrino retal
pl	Nowotwór neuroendokrynny odbytnicy	Guz neuroendokrynny odbytnicy
cs	Endokrinní nádor rekta	Rektální endokrinní nádor
uk	Нейроендокринна пухлина прямої кишки	НЕП прямої кишки · Ректальна НЕП · Нейроендокринна пухлина прямої кишки
zh	直肠神经内分泌肿瘤	直肠神经内分泌瘤
tr	Rektumun nöroendokrin tümörü	Rektal NET · Rektumun NET'i · Rektal nöroendokrin tümör

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	C20	NTBT	attributed	validated
ICD-11	2B92.1	E	specific	validated
MONDO	0003646	E		validated
MONDO	15068	E		validated
MONDO	3646	E		validated
UMLS	C5554035	E		validated
MedDRA	10085767	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 (2):

ORPHA:481508Gastroenteric neuroendocrine neoplasm
rare endocrine diseases; rare neoplastic diseases
ORPHA:423998Rare epithelial tumor of rectum
rare gastroenterological 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

25 annotations · validated 2017-11-08

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0100570	Carcinoid tumor
Frequent (79-30%)
HP:0002027	Abdominal pain
HP:0002039	Anorexia
HP:0030446	Atypical pulmonary carcinoid tumor
HP:0025085	Bloody diarrhea
HP:0002019	Constipation
HP:0002573	Hematochezia
HP:0030144	Hypoactive bowel sounds
HP:0012702	Tenesmus
HP:0001824	Weight loss
Occasional (29-5%)
HP:0002730	Chronic noninfectious lymphadenopathy
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0002240	Hepatomegaly
HP:0002249	Melena
Very rare (<4-1%)
HP:0031566	Abnormal pulmonary valve cusp morphology
HP:0012701	Bowel urgency
HP:4000007	Bronchoconstriction
HP:0007380	Facial telangiectasia
HP:0002615	Hypotension
HP:0003144	Increased serum serotonin
HP:0030145	Lack of bowel sounds
HP:0001962	Palpitations
HP:0004385	Protracted diarrhea
HP:0001708	Right ventricular failure
HP:0005180	Tricuspid regurgitation

Run the differential on the 1 obligate / very frequent terms

Annotation source: 20664474[PMID]_24163193[PMID]_24763982[PMID]_24412088[PMID]_16913162[PMID]_22052063[PMID]_1568162[PMID]_15213627[PMID]_24468036[PMID]_27175651[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/100081
This record as JSON: /data/d/100081.json