ORPHA:92050
Congenital tufting enteropathy
Synonyms: IED · Intestinal epithelial dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital tufting enteropathy | IED · Intestinal epithelial dysplasia |
| fr | Entéropathie congénitale en touffes | Dysplasie épithéliale intestinale |
| de | Tufting-Enteropathie, kongenitale | IED · Intestinale epitheliale Dysplasie · Kongenitale Intraktable Durchfälle mit epithelialen Anomalien |
| es | Enteropatía congénita en penacho | DEI · Displasia epitelial intestinal |
| it | Enteropatia congenita a ciuffi | Displasia epiteliale intestinale · IED |
| nl | Congenitale tufting-enteropathie | Congenitale intestinale epitheliale dysplasie · IED · Intestinale epitheliale dysplasie |
| pt | Enteropatia congénita entufada | IED · Displasia do epitélio intestinal |
| pl | Wrodzona enteropatia kępkowa | IED · Dysplazja nabłonka jelit |
| cs | Střevní epiteliální dysplázie | IED · Vrozený familiární neřešitelný průjem s abnormalitami epitelu · Chomáčovitá enteropatie |
| uk | Вроджена ворсинчаста ентеропатія | IED · Дисплазія кишкового епітелію · Несиндромальна вроджена ворсинчаста ентеропатія |
| zh | 先天性簇绒肠病 | 非综合征型先天性簇绒肠病 |
| tr | Doğumsal tafting enteropati | IED · Bağırsak epitel displazisi · Sendromik olmayan doğumsal tufting enteropatisi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613217 | E | validated | |
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0013184 | E | validated | |
| UMLS | C4275062 | E | validated | |
| GARD | 10630 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:104007Congenital enteropathy involving intestinal mucosa development
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:363300Genetic intractable diarrhea of infancy
rare genetic diseases - ORPHA:73014Intractable diarrhea of infancy
rare gastroenterological diseases; rare transplant-related disorders - ORPHA:717865Rare congenital/chronic/intractable diarrhea with inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EPCAM | Disease-causing germline mutation(s) in | Assessed | HGNC:11529 | ENSG00000119888 | 185535 | 2p21 | epithelial cell adhesion molecule | 18572020[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 / 100 000 | Europe | Value and class | Validated | Dr Julie Salomon[EXPERT]_Dr Olivier Goulet[EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_17448233[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.
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HPO phenotypes
26 annotations · validated 2021-03-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002028 | Chronic diarrhea | |
| HP:0001508 | Failure to thrive | |
| HP:0002024 | Malabsorption | |
| HP:0011473 | Villous atrophy | |
| Frequent (79-30%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0025129 | Abnormal small intestinal mucosa morphology | |
| HP:0001944 | Dehydration | |
| HP:0032486 | Elevated fecal osmolality | |
| HP:0000737 | Irritability | |
| HP:0005208 | Secretory diarrhea | |
| HP:0002570 | Steatorrhea | |
| HP:0001824 | Weight loss | |
| Occasional (29-5%) | ||
| HP:0025090 | Abnormal large intestinal mucosa morphology | |
| HP:0000951 | Abnormality of the skin | |
| HP:0001369 | Arthritis | |
| HP:0000518 | Cataract | |
| HP:0200020 | Corneal erosion | |
| HP:0000613 | Photophobia | |
| Very rare (<4-1%) | ||
| HP:0002023 | Anal atresia | |
| HP:0000453 | Choanal atresia | |
| HP:0002611 | Cholestatic liver disease | |
| HP:0000588 | Optic disc coloboma | |
| HP:0000202 | Orofacial cleft | |
| HP:0011859 | Punctate keratitis | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0002013 | Vomiting | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 33029133[PMID]_33374714[PMID]_30461124[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/92050
- This record as JSON: /data/d/92050.json