Enteric anendocrinosis
Synonyms: Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea (requiring parenteral nutrition and disappearing at fasting) due to a lack of intestinal enteroendocrine cells. It is associated with early-onset (within the first weeks of life) dehydration, metabolic acidosis and diabetes mellitus (that can develop until late childhood). Patient may display various degrees of pancreatic insufficiency that does not explain diarrhea, as it is not reduced with pancreatic enzyme supplementation. Central hypogonadism (developing in the second decade), as well as an association with celiac disease have been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Enteric anendocrinosis | Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells |
| fr | Anendocrinose entérique | Diarrhée malabsorptive congénitale par diminution des cellules endocriniennes entérale |
| de | Anendokrinose, enterische | Diarrhoe, kongenitale malabsorptive, durch Mangel an enteroendokrinen Zellen |
| es | Anendocrinosis entérica | Diarrea congénita con malabsorción por insuficiencia de células enteroendocrinas |
| it | Anendocrinosi enterica | |
| nl | Enterische anendocrinose | Congenitale malabsorptieve diarree door gebrek aan entero-endocriene cellen |
| pt | Anendocrinose entérica | |
| pl | Wrodzona biegunka spowodowana niedoborem komórek enteroendokrynowych | Anedokrynoza jelitowa |
| cs | Vrozený malabsorpční průjem způsobený nedostatkem enteroendokrinních buněk | Enterální anendokrinóza |
| uk | Ентеральний анендокриноз | Вроджена мальабсорбційна діарея через недостатність ентероендокринних клітин |
| zh | 先天性吸收不良性腹泻 | 肠内分泌细胞缺乏所致先天性吸收不良性腹泻 |
| tr | Enterik anendokrinoz | Enteroendokrin hücrelerin azlığına bağlı doğumsal malabsorbtif diyare |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610370 | E | validated | |
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0012479 | E | validated | |
| MeSH | C563673 | E | validated | |
| UMLS | C1835888 | 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:104007Congenital enteropathy involving intestinal mucosa development
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NEUROG3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13806 | ENSG00000122859 | 604882 | 10q22.1 | neurogenin 3 | 16855267[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 24134759[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24134759[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
9 annotations · validated 2017-08-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001944 | Dehydration | |
| HP:0002014 | Diarrhea | |
| HP:0004918 | Hyperchloremic metabolic acidosis | |
| HP:0002024 | Malabsorption | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0025354 | Abnormal cellular phenotype | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0001409 | Portal hypertension | |
| HP:0100651 | Type I diabetes mellitus | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/83620
- This record as JSON: /data/d/83620.json