ORPHA:714490
PERCC1-related congenital intractable malabsorptive diarrhea
- 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 | PERCC1-related congenital intractable malabsorptive diarrhea | |
| fr | Diarrhée malabsorptive congénitale réfractaire associée à PERCC1 | |
| de | PERCC1-assoziierte angeborene refraktäre Malabsorptionsdiarrhoe | |
| es | Diarrea malabsortiva congénita intratable asociada a PERCC1 | |
| it | Diarrea con malassorbimento congenita non trattabile correlata a PERCC1 | |
| nl | PERCC1-gerelateerde congenitale therapieresistente malabsorptieve diarree | |
| pt | PERCC1-related congenital intractable malabsorptive diarrhea | |
| pl | Wrodzona, niepodatna na leczenie biegunka z zespołem złego wchłaniania związana z PERCC1 | |
| cs | PERCC1-related congenital intractable malabsorptive diarrhea |
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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:717851Rare non-syndromic 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 |
|---|---|---|---|---|---|---|---|---|
| PERCC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:52293 | ENSG00000284395 | 618656 | 16p13.3 | proline and glutamate rich with coiled coil 1 | 36076104[PMID]_38710080[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 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/714490
- This record as JSON: /data/d/714490.json