ORPHA:168601
Congenital enteropathy due to enteropeptidase deficiency
Synonyms: Congenital enterokinase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital enteropathy due to enteropeptidase deficiency is a rare, genetic, gastroenterological disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption (or steatorrhea) in the presence of very low or absent trypsin activity in duodenal fluid. Celiac disease, or other pancreatic or mucosal disorders, may be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital enteropathy due to enteropeptidase deficiency | Congenital enterokinase deficiency |
| fr | Entéropathie congénitale due à un déficit de l'entéropeptidase | Déficit congénital en entérokinase |
| de | Enteropathie, kongenitale, durch Enteropeptidase-Mangel | Enterokinase-Mangel, kongenitaler |
| es | Enteropatía congénita por deficiencia de enteropeptidasa | Deficiencia congénita de enteroquinasa |
| it | Enteropatia congenita da deficit di enteropeptidasi | Deficit congenito di enterochinasi |
| nl | Congenitale enteropathie door enteropeptidasedeficiëntie | Congenitale enterokinasedeficiëntie |
| pt | Enteropatia congénita por deficiência de enteropeptidase | |
| pl | Wrodzona enteropatia spowodowana niedoborem enteropeptydazy | Wrodzony Niedobór enterokinazy |
| cs | Vrozená enteropatie způsobená deficitem enteropeptidázy | Vrozený deficit enterokinázy |
| uk | Вроджена ентеропатія внаслідок дефіциту ентеропептидази | Вроджений дефіцит ентерокінази |
| zh | 肠肽酶缺乏所致先天性肠病 | 先天性肠激酶缺乏症 |
| tr | Enteropeptidaz eksikliğine bağlı Doğumsal enteropati | Doğumsal enterokinaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226200 | E | validated | |
| ICD-10 | K90.8 | NTBT | attributed | validated |
| ICD-11 | DA90.Y | NTBT | index | validated |
| MONDO | 0009173 | E | validated | |
| MeSH | C562649 | E | validated | |
| UMLS | C0268416 | 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 (1):
- ORPHA:104006Congenital intestinal disease due to an enzymatic defect
rare gastroenterological diseases; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMPRSS15 | Disease-causing germline mutation(s) in | Assessed | HGNC:9490 | ENSG00000154646 | 606635 | 21q21.1 | transmembrane serine protease 15 | 11719902[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/168601
- This record as JSON: /data/d/168601.json