ORPHA:697385
Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
Synonyms: CID-cancer predisposing syndrome due to AIOLOS deficiency · CID-cancer predisposing syndrome due to IKZF3 deficiency · Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency · Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Orphadata ships no English definition for this code.
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Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency | CID-cancer predisposing syndrome due to AIOLOS deficiency · CID-cancer predisposing syndrome due to IKZF3 deficiency · Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency · Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency |
| fr | Syndrome de déficit immunitaire combiné-prédisposition aux cancers par déficit en AIOLOS | Syndrome d'immunodéficience combinée-prédisposition aux cancers par déficit en AIOLOS · Syndrome de CID-prédisposition aux cancers par déficit en AIOLOS · Syndrome de DIC-prédisposition aux cancers par déficit en AIOLOS · Syndrome de déficit immunitaire combiné-prédisposition aux cancers par déficit en protéine IKAROS familly zinc finger 3 |
| de | Kombinierter Immundefekt mit Krebsprädisposition durch AIOLOS-Defizienz | CID mit Krebsprädispositionssyndrom durch AIOLOS-Mangel · CID mit Krebsprädispositionssyndrom durch IKZF3-Defizienz |
| es | Síndrome de inmunodeficiencia combinada-predisposición al cáncer por deficiencia de AIOLOS | Síndrome de IDC con predisposición al cáncer por deficiencia de AIOLOS · Síndrome de IDC con-predisposición al cáncer por deficiencia de IKZF3 · Síndrome de inmunodeficiencia combinada con predisposición al cáncer por deficiencia de IKZF3 · Síndrome de inmunodeficiencia combinada con predisposición al cáncer por deficiencia del dedo de zinc 3 de la familia IKAROS |
| it | Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit di AIOLOS | Sindrome CID-predisposizione ai tumori da deficit di AIOLOS · Sindrome CID-predisposizione ai tumori da deficit di IKZF3 · Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit del dito di zinco 3 della famiglia IKAROS · Sindrome immunodeficienza combinata-predisposizione ai tumori da deficit di IKZF3 |
| nl | Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door AIOLOS-deficiëntie | CID - kankerpredispositiesyndroom door AIOLOS-deficiëntie · CID - kankerpredispositiesyndroom door IKZF3-deficiëntie · Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door IKZF3-deficiëntie · Gecombineerde immuundeficiëntie - kankerpredispositiesyndroom door deficiëntie van IKAROS-familie zinkvinger 3 |
| pt | Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency | |
| pl | Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency | = en |
| cs | Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619437 | 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.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:619340Inherited hematologic cancer-predisposing syndrome
rare genetic diseases; rare neoplastic diseases - ORPHA:331217Syndrome with combined immunodeficiency
rare genetic diseases; rare immunological diseases
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Genes
0 direct · 1 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| IKZF3 | ORPHA:699593Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency | Disease-causing germline mutation(s) in | Assessed | HGNC:13178 | ENSG00000161405 | 606221 | 17q12-q21.1 | IKAROS family zinc finger 3 | 34155405[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 | 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/697385
- This record as JSON: /data/d/697385.json