ORPHA:699593
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
Synonyms: CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency · CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency · Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- 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-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency | CID-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency · CID-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency · Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to IKZF3 deficiency |
| fr | Syndrome de déficit immunitaire combiné-lymphopénie-prédisposition aux cancers par déficit en AIOLOS | Syndrome d'immunodéficience combinée-lymphopénie-prédisposition aux cancers par déficit en AIOLOS · Syndrome de CID-lymphopénie-prédisposition aux cancers par déficit en AIOLOS · Syndrome de CID-lymphopénie-prédisposition aux cancers par déficit en IKZF3 · Syndrome de DIC-lymphopénie-prédisposition aux cancers par déficit en AIOLOS · Syndrome de DIC-lymphopénie-prédisposition aux cancers par déficit en IKZF3 · Syndrome de déficit immunitaire combiné-lymphopénie-prédisposition aux cancers par déficit en IKZF3 |
| de | Kombinierter Immundefekt mit Lymphozytopenie und Krebsprädisposition durch AIOLOS-Mangel | CID mit Lymphozytopenie und Krebsprädispositiondurch AIOLOS-Defizienz · CID mit Lymphozytopenie und Krebsprädispositiondurch IKZF3-Defizienz |
| es | Síndrome de inmunodeficiencia combinada-linfopenia-predisposición al cáncer por deficiencia de AIOLOS | Síndrome de IDC-linfopenia-predisposición al cáncer por deficiencia de IKZF3 · Síndrome de inmunodeficiencia combinada-linfopenia-predisposición al cáncer por deficiencia de IKZF3 · Síndrome de IDC-linfopenia-predisposición al cáncer por deficiencia de AIOLOS |
| it | Sindrome immunodeficienza combinata-linfopenia-suscettibilità ai tumori da deficit di AIOLOS | Sindrome CID- linfopenia- suscettibilità ai tumori da deficit di AIOLOS · Sindrome CID-linfopenia- suscettibilità ai tumori da deficit di IKZF3 · Sindrome immunodeficienza combinata-linfopenia- suscettibilità ai tumori da deficit di IKZF3 |
| nl | Gecombineerde immuundeficiëntie - lymfopenie - kankerpredispositiesyndroom door AIOLOS-deficiëntie | CID - lymfopenie - kankerpredispositiesyndroom door AIOLOS-deficiëntie · CID - lymfopenie - kankerpredispositiesyndroom door IKZF3-deficiëntie · Gecombineerde immuundeficiëntie - lymfopenie - kankerpredispositiesyndroom door IKZF3-deficiëntie |
| pt | Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency | |
| pl | Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency | = en |
| cs | Combined immunodeficiency-lymphopenia-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 | NTBT | 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 (1):
- ORPHA:697385Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
rare genetic diseases; rare immunological diseases; rare neoplastic diseases; rare transplant-related disorders
No children.
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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 | 34155405[PMID] |
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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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/699593
- This record as JSON: /data/d/699593.json