Chronic enteropathy associated with SLCO2A1 gene
Synonyms: CEAS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
A rare genetic gastroenterological disease characterized by the presence of multiple persistent, intractable ulcers of the small intestine, leading to chronic blood and protein loss. Signs and symptoms include abdominal pain, anemia, fatigue, edema, and diarrhea. Morphologically, the condition manifests with multiple sharply demarcated shallow lesions with irregular circular or linear shape.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Chronic enteropathy associated with SLCO2A1 gene | CEAS |
| fr | Entéropathie chronique associée au SLCO2A1 | = en |
| de | Enteropathie, chronische, SLCO2A1-Gen-assoziierte | = en |
| es | Enteropatía crónica asociada al gen SLCO2A1 | = en |
| it | Enteropatia cronica associata al gene SLCO2A1 | |
| nl | Chronische enteropathie geassocieerd met SLCO2A1-gen | = en |
| pt | Enteropatia crónica associada ao gene SLC2A1 | |
| pl | Przewlekła enteropatia związana z genem SLCO2A1 | = en |
| cs | Chronická enteropatie asociovaná s genem SLCO2A1 | = en |
| uk | Хронічна ентеропатія, асоційована з геном SLCO2A1 | = en |
| zh | SLCO2A1相关慢性肠病 | = en |
| tr | SLCO2A1 geni ilişkili kronik enteropati | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K63.8 | NTBT | attributed | validated |
| ICD-11 | DA94.01 | E | specific | validated |
| MONDO | 0018766 | E | validated | |
| UMLS | C5568838 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:717851Rare non-syndromic inflammatory bowel disease
rare gastroenterological diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLCO2A1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10955 | ENSG00000174640 | 601460 | 3q22.1-q22.2 | solute carrier organic anion transporter family member 2A1 | 26539716[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 26539716[PMID]_17709045[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24035666[PMID]_23268370[PMID]_25708899[PMID]_26539716[PMID]_17709045[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/468641
- This record as JSON: /data/d/468641.json