ORPHA:714477
Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome | |
| fr | Syndrome inflammatoire de l'intestin précoce-lésions cutanées ulcéreuses-déficit immunitaire | |
| de | Früh einsetzende entzündliche Darmerkrankung-ulzerative Hautläsionen-Immundefekt-Syndrom | ANKZF1-assoziierte entzündliche Darmerkrankung mit Beginn im Kindesalter |
| es | Síndrome de enfermedad inflamatoria intestinal-lesiones cutáneas ulcerativas-inmunodeficiencia de inicio precoz | |
| it | Sindrome malattia infiammatoria dellintestino ad esordio precoce-lesioni cutanee ulcerative-immunodeficienza | |
| nl | Vroeg optredende inflammatoire darmziekte - ulceratieve huidlaesies - immuundeficiëntie-syndroom | |
| pt | Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome | |
| pl | Zespół z nieswoistym zapaleniem jelit o wczesnym początku, wrzodziejącymi zmianami skórnymi i niedoborem odporności | |
| cs | Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D89.8 | 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 (3):
- ORPHA:79391Immune deficiency with skin involvement
rare skin diseases - ORPHA:169361Immune dysregulation disease with immunodeficiency
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease 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 |
|---|---|---|---|---|---|---|---|---|
| ANKZF1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:25527 | ENSG00000163516 | 617541 | 2q35 | ankyrin repeat and zinc finger peptidyl tRNA hydrolase 1 | 28302725[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28302725[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28302725[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/714477
- This record as JSON: /data/d/714477.json