ORPHA:699590
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency | |
| fr | Dérèglement immunitaire avec immunodéficience par haploinsuffisance d'AIOLOS | |
| de | Immundysregulation mit Immundefekt durch AIOLOS-Haploinsuffizienz | |
| es | Desregulación inmunológica con inmunodeficiencia por haploinsuficiencia de AIOLOS | |
| it | Disregolazione immunitaria con immunodeficienza da aploinsufficienza di AIOLOS | |
| nl | Immuundisregulatie met immuundeficiëntie door AIOLOS-haploinsufficiëntie | |
| pt | Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency | |
| pl | Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency | |
| cs | Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D84.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A01.2Y | NTBT | attributed | not yet 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:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKZF3 | Disease-causing germline mutation(s) in | Assessed | HGNC:13178 | ENSG00000161405 | 606221 | 17q12-q21.1 | IKAROS family zinc finger 3 | 38015619[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
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/699590
- This record as JSON: /data/d/699590.json