ORPHA:714481
SCGN-related severe early-onset hereditary ulcerative colitis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | SCGN-related severe early-onset hereditary ulcerative colitis | |
| fr | Colite ulcéreuse héréditaire sévère précoce associée à SCGN | |
| de | SCGN-assoziierte schwere früh einsetzende hereditäre Colitis ulcerosa | |
| es | Colitis ulcerosa hereditaria grave asociada a SCGN de inicio precoz | |
| it | Colite ulcerosa ereditaria grave ad esordio precoce correlata a SCGN | |
| nl | SCGN-gerelateerde ernstige vroeg optredende hereditaire colitis ulcerosa | SCGN-gerelateerde ernstige erfelijke ulceratieve colitis met vroeg begin |
| pt | SCGN-related severe early-onset hereditary ulcerative colitis | |
| pl | Ciężkie, dziedziczne wrzodziejące zapalenie jelita grubego o wczesnym początku związane z SCGN | |
| cs | SCGN-related severe early-onset hereditary ulcerative colitis |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | K51.8 | NTBT | attributed | validated |
E 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 (1):
- 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 |
|---|---|---|---|---|---|---|---|---|
| SCGN | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:16941 | ENSG00000079689 | 609202 | 6p22.2 | secretagogin, EF-hand calcium binding protein | 31663849[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 31663849[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31663849[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.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/714481
- This record as JSON: /data/d/714481.json