ORPHA:563708
Syndromic congenital sodium diarrhea
Synonyms: Syndromic congenital tufting enteropathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, syndromic intestinal disorder, characterized by congenital onset of severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis, and generally, uni- or bilateral choanal atresia, and corneal erosions. Additional congenital malformations may include intestinal atresia, and hexadactyly.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic congenital sodium diarrhea | Syndromic congenital tufting enteropathy |
| fr | Diarrhée sodée congénitale syndromique | Entéropathie congénitale en touffes syndromique |
| de | Syndromale kongenitale Natriumdiarrhöe | Syndromale kongenitale Tufting-Enteropathie |
| es | Diarrea sódica congénita sindrómica | Enteropatía congénita en penacho congénita |
| it | Diarrea sodica congenita sindromica | Enteropatia sindromica congenita a ciuffi |
| nl | Syndromale congenitale natriumdiarree | Syndromale congenitale tufting-enteropathie |
| pt | Diarreia sódio-relacionada congénita sindromática | |
| pl | Syndromiczna wrodzona biegunka sodowa | = en |
| cs | Syndromický vrozený sodíkový průjem | = en |
| uk | Синдром вродженої натрієвої діареї | Синдром вродженої ворсинчастої ентеропатії |
| zh | 综合征性先天性钠盐腹泻 | 综合征性先天性簇绒肠病 |
| tr | Sendromik doğumsal sodyum diyare | Sendromik doğumsal tafting enteropati |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 270420 | E | validated | |
| ICD-10 | K59.8 | NTBT | attributed | validated |
| ICD-10 | K90.8 | NTBT | attributed | validated |
| ICD-11 | DA90.1 | NTBT | attributed | validated |
| MONDO | 0034204 | E | validated | |
| UMLS | C5680120 | 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 (3):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SPINT2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:11247 | ENSG00000167642 | 605124 | 19q13.2 | serine peptidase inhibitor, Kunitz type 2 | 26358773[PMID]_19185281[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/563708
- This record as JSON: /data/d/563708.json