ORPHA:53689
Congenital chloride diarrhea
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic intestinal disease characterized by persistent, potentially life-threatening, watery diarrhea with excessive levels of chloride in stools, hypochloremia, hyponatremia, hypokalemia, and metabolic alkalosis, resulting in chronic dehydration and failure to thrive. Antenatal ultrasound typically reveals polyhydramnios and significant dilatation of the fetal intestinal loops.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital chloride diarrhea | |
| fr | Diarrhée chlorée congénitale | |
| de | Chlorid-Diarrhoe, kongenitale | Chlorid-Diarrhoe-Syndrom |
| es | Diarrea clorada congénita | Clorhidrorrea congénita |
| it | Diarrea congenita da cloruri | |
| nl | Congenitale chloridediarree | |
| pt | Diarreia por cloreto congénita | Diarreia cloro-relacionada congénita |
| pl | Wrodzona biegunka chlorkowa | |
| cs | Vrozený průjem s poruchou chloridů | |
| uk | Вроджена хлоридна діарея | |
| zh | 先天性氯化物性腹泻 | |
| tr | Doğumsal klorür ishal |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 214700 | E | validated | |
| ICD-10 | P78.3 | NTBT | attributed | validated |
| ICD-11 | DA90.1 | NTBT | index | validated |
| MONDO | 0008964 | E | validated | |
| MeSH | C536210 | E | validated | |
| UMLS | C0267662 | E | validated | |
| GARD | 10001 | 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 (2):
- ORPHA:104003Congenital intestinal transport defect
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:717851Rare non-syndromic 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 |
|---|---|---|---|---|---|---|---|---|
| SLC26A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3018 | ENSG00000091138 | 126650 | 7q22.3-q31.1 | solute carrier family 26 member 3 | 11524734[PMID]_21394828[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/53689
- This record as JSON: /data/d/53689.json