ORPHA:103908
Congenital sodium diarrhea
Synonyms: CSD · NHE3 deficiency · Na-H exchanger 3 deficiency · Non-syndromic congenital sodium diarrhea · Sodium/proton exchanger-3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, non-syndromic intestinal transport defect characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital sodium diarrhea | CSD · NHE3 deficiency · Na-H exchanger 3 deficiency · Non-syndromic congenital sodium diarrhea · Sodium/proton exchanger-3 deficiency |
| fr | Diarrhée sodée congénitale | Diarrhée congénitale avec malabsorption du sodium · Diarrhée sodée congénitale non syndromique · Déficit de NHE3 · Déficit de l'échangeur Na-H de type 3 · Déficit de l'échangeur sodium-hydrogène 3 |
| de | Natrium-Diarrhoe, kongenitale | CSD · NHE3-Defizienz · Na-H-Austauscher-Defizienz · Natrium-/Protonenaustauscher-3-Mangel · Nicht-syndromale kongenitale Natrium-Diarrhoe |
| es | Diarrea sódica congénita | Deficiencia de NHE3 · Deficiencia del intercambiador Na-H tipo 3 · Deficiencia del intercambiador de sodio/protones tipo 3 · Diarrea sódica congénita no sindrómica |
| it | Diarrea da sodio congenita | Deficit dello scambiatore Na-H 3 · Deficit dello scambiatore sodio/protone 3 · Deficit di NHE3 · Diarrea sodica congenita non sindromica · Deficit dell'attività di scambio Na-H · CSD |
| nl | Congenitale natriumdiarree | CSD · Deficiëntie van Na-H-antiporter 3 · Deficiëntie van natrium/proton-antiporter 3 · NHE3-deficiëntie · Niet-syndromale congenitale natriumdiarree |
| pt | Diarreia sódio-relacionada congénita | CSD · Deficiência NHE3 · Deficiência de permutador Na-H · Deficiência do permutador-3 de sódio/protão · Diarreia sódio-relacionada congénita não-sindromática |
| pl | Wrodzona biegunka sodowa | Niedobór wymiany Na-H |
| cs | Vrozený průjem způsobený poruchou sodíkového kanálu | Deficit výmeny Na-H · Deficit výměny Na-H |
| uk | Вроджена натрієва діарея | Дефіцит обміну Na-H · Несиндромна вроджена натрієва діарея без синдрому |
| zh | 先天性失钠性腹泻 | 非综合征性先天性失钠性腹泻 |
| tr | Doğumsal sodyum ishali | Na-H değişim eksikliği · Sendromik olmayan doğumsal sodyum diyare |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270420 | BTNT | validated | |
| OMIM | 616868 | BTNT | validated | |
| ICD-10 | K90.8 | NTBT | attributed | validated |
| ICD-11 | DA90.1 | NTBT | index | validated |
| MONDO | 0015170 | E | validated | |
| UMLS | C0267663 | 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:104003Congenital intestinal transport defect
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:717851Rare non-syndromic inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC9A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11073 | ENSG00000066230 | 182307 | 5p15.33 | solute carrier family 9 member A3 | 26358773[PMID] |
| GUCY2C | Disease-causing germline mutation(s) in | Assessed | HGNC:4688 | ENSG00000070019 | 601330 | 12p12.3 | guanylate cyclase 2C | 25994218[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 26835907[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 26835907[PMID]_ORPHANET |
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
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/103908
- This record as JSON: /data/d/103908.json