ORPHA:317473
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
Synonyms: CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare syndrome with combined immunodeficiency characterized by a variable clinical presentation ranging from asymptomatic individuals to potentially life-threatening, recurrent bacterial infections associated with progressive loss of serum immunoglobulins and B cells.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency | CVID phenotype due to IKAROS functional haploinsufficiency · Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency |
| fr | Phénotype de déficit immunitaire commun variable par haploinsuffisance fonctionnelle d'IKAROS | Phénotype d'immunodéficience commune variable par haploinsuffisance fonctionnelle d'IKAROS · Phénotype de CVID par haploinsuffisance fonctionnelle d'IKAROS · Phénotype de DICV par haploinsuffisance fonctionnelle d'IKAROS · Phénotype de déficit immunitaire commun variable par haploinsuffisance fonctionnelle d'IKZF1 |
| de | Primärer Immundefekt durch funktionelle IKAROS-Haploinsuffizienz | CVID durch IKAROS-Haploinsuffizienz · Variables Immundefektsyndrom durch IKZF1-Haploinsuffizienz |
| es | Fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de IKAROS | Fenotipo de IDCV por haploinsuficiencia funcional de IKAROS · Fenotipo de inmunodeficiencia común variable por haploinsuficiencia funcional de IKZF1 |
| it | Pancitopenia da mutazioni di IKZF1 | CID da deficit di ikaros · Immunodeficienza combinata da deficit di ikaros |
| nl | Fenotype van gewone variabele immuundeficiëntie door functionele IKAROS-haploinsufficiëntie | CVID-fenotype door functionele IKAROS-haploinsufficiëntie · Fenotype van gewone variabele immuundeficiëntie door functionele IKZF1-haploinsufficiëntie |
| pt | Fenótipo de imunodeficiência comum variável devido à haploinsuficiência funcional IKAROS | Fenótipo CVID devido à haploinsuficiência funcional IKAROS · Fenótipo de imunodeficiência comum variável devido à haploinsuficiência funcional IKZF1 |
| pl | Pancytopenia spowodowana mutacjami IKZF1 | CID spowodowny niedoborem IKAROS · Złożony niedobór odporności spowodowny niedoborem IKAROS |
| cs | Pancytopenie způsobená mutacemi v genu IKZF1 | CID způsobená deficitem genu ikaros · Kombinovaná imunodeficience způsobená deficitem genu ikaros |
| uk | Панцитопенія, зумовлена мутацією IKZF1 | КІД через дефіцит IKAROS · Комбінований імунодефіцит внаслідок дефіциту IKAROS |
| zh | IKZF1基因突变所致全血细胞减少症 | IKAROS缺陷所致联合免疫缺陷 |
| tr | IKZF1 mutasyonlarına bağlı pansitopeni | IKAROS eksikliğine bağlı CID · IKAROS eksikliğine bağlı kombine immün yetmezlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616873 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0014810 | E | validated | |
| UMLS | C5190826 | E | 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 (2):
- ORPHA:696870Common variable immunodeficiency phenotype due to germinal monogenic mutation
rare genetic diseases; rare immunological diseases - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| IKZF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:13176 | ENSG00000185811 | 603023 | 7p12.2 | IKAROS family zinc finger 1 | 21548011[PMID]_26981933[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 39 cases | Worldwide | Case(s) | Validated | 21548011[PMID]_26981933[PMID]_27939403[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21548011[PMID]_26981933[PMID]_27939403[PMID] |
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/317473
- This record as JSON: /data/d/317473.json