ORPHA:697389
Combined immunodeficiency due to HELIOS deficiency
Synonyms: CID due to HELIOS deficiency · Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency · Combined immunodeficiency due to IKZF2 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult, 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 HELIOS deficiency | CID due to HELIOS deficiency · Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency · Combined immunodeficiency due to IKZF2 deficiency |
| fr | Déficit immunitaire combiné par déficit en HELIOS | CID par déficit en HELIOS · DIC par déficit en HELIOS · Déficit immunitaire combiné par déficit en IKZF2 · Déficit immunitaire combiné par déficit en protéine IKAROS family zinc finger 2 · Immunodéficience combinée par déficit en HELIOS |
| de | Immundefekt, kombinierter, durch HELIOS-Mangel | CID durch HELIOS-Defizienz · Immundefekt, kombinierter, durch IKZF2-Defizienz |
| es | Inmunodeficiencia combinada por deficiencia de HELIOS | IDC por deficiencia de HELIOS · Inmunodeficiencia combinada por deficiencia de IKZF2 · Inmunodeficiencia combinada por deficiencia del dedo de zinc 2 de la familia IKAROS |
| it | Immunodeficienza combinata da deficit di HELIOS | CID da deficit di HELIOS · Sindrome immunodeficienza combinata da deficit del dito di zinco 2 della famiglia IKAROS · Immunodeficienza combinata da deficit di IKZF2 |
| nl | Gecombineerde immuundeficiëntie door HELIOS-deficiëntie | CID door HELIOS-deficiëntie · Gecombineerde immuundeficiëntie door IKZF2-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van IKAROS-familie zinkvinger 2 |
| pt | Combined immunodeficiency-hypogammaglobulinemia due to HELIOS deficiency | |
| pl | Combined immunodeficiency due to HELIOS deficiency | = en |
| cs | Combined immunodeficiency due to HELIOS deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 621233 | E | validated | |
| 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:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:664450Inherited cancer-predisposing lymphoproliferative syndrome
rare genetic diseases; rare neoplastic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IKZF2 | Disease-causing germline mutation(s) in | Assessed | HGNC:13177 | ENSG00000030419 | 606234 | 2q34 | IKAROS family zinc finger 2 | 34826260[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 34826260[PMID]_34826259[PMID]_34920454[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 34826260[PMID]_34826259[PMID]_34920454[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/697389
- This record as JSON: /data/d/697389.json