ORPHA:695172
Combined immunodeficiency due to dimerization defective IKAROS mutation
Synonyms: CID due to IKAROS dimerization defective mutation · Combined immunodeficiency due to dimerization defective IKZF1 mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- 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 | Combined immunodeficiency due to dimerization defective IKAROS mutation | CID due to IKAROS dimerization defective mutation · Combined immunodeficiency due to dimerization defective IKZF1 mutation |
| fr | Déficit immunitaire combiné dû à une mutation IKAROS défectueuse de la dimérisation | CID due à une mutation IKAROS défectueuse de la dimérisation · DIC dû à une mutation IKAROS défectueuse de la dimérisation · Déficit immunitaire combiné dû à une mutation défectueuse de la dimérisation d'IKZF1 · Immunodéficience combinée due à une mutation IKAROS défectueuse de la dimérisation |
| de | Primärer Immundefekt durch IKAROS-Mutation mit gestörter Dimerisierung | CID durch IKZF1-Mutation mit assoziiertem Dimerisierungsdefekt · Immundefekt, kombinierter, durch IKZF1-Mutation mit Dimerisierungsdefekt |
| es | Inmunodeficiencia combinada por mutación de IKAROS con dimerización defectuosa | IDC por mutación de IKAROS con dimerización defectuosa · Inmunodeficiencia combinada por mutación de IKZF1 con dimerización defectuosa |
| it | Immunodeficienza combinata da mutazione di IKAROS con difetto della dimerizzazione | CID da mutazione con difetto della dimerizzazione di IKAROS · Immunodeficienza combinata da mutazione di IKZF1 con difetto della dimerizzazione |
| nl | Gecombineerde immuundeficiëntie door dimerisatie-deficiënte IKAROS-mutatie | CID door dimerisatie-deficiënte IKAROS-mutatie · Gecombineerde immuundeficiëntie door dimerisatie-deficiënte IKZF1-mutatie |
| pt | Combined immunodeficiency due to dimerization defective IKZF1 mutation | |
| pl | Combined immunodeficiency due to dimerization defective IKAROS mutation | = en |
| cs | Combined immunodeficiency due to dimerization defective IKAROS mutation | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | 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 (2):
- ORPHA:695164Combined immunodeficiency with low B cells and hypogammaglobulinemia
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKZF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13176 | ENSG00000185811 | 603023 | 7p12.2 | IKAROS family zinc finger 1 | 32845957[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 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.
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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/695172
- This record as JSON: /data/d/695172.json