ORPHA:714487
Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome | |
| fr | Syndrome de diarrhée congénitale-inflammation gastro-intestinale-dysgénésie oculaire | |
| de | Kongenitale Diarrhoe-chronische gastrointestinale Inflammation-okuläre Dysgenesie-Syndrom | |
| es | Síndrome de diarrea congénita-inflamación gastrointestinal crónica-disgenesia ocular | |
| it | Sindrome diarrea congenita-infiammazione gastrointestinale cronica-disgenesia oculare | |
| nl | Congenitale diarree - chronische gastro-intestinale inflammatie - oculaire dysgenesie-syndroom | |
| pt | Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome | |
| pl | Zespół z wrodzoną biegunką, przewlekłym zapaleniem przewodu pokarmowego i dysgenezją oczu | |
| cs | Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome |
2
Cross-references
qualifier = Orphanet mapping relationE exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WNT2B | Disease-causing germline mutation(s) in | Assessed | HGNC:12781 | ENSG00000134245 | 601968 | 1p13.2 | Wnt family member 2B | 29909964[PMID]_33526876[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 29909964[PMID]_33526876[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 29909964[PMID]_33526876[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.
6
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/714487
- This record as JSON: /data/d/714487.json