ORPHA:697403
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
Synonyms: CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- 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-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency | CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency · Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency |
| fr | Syndrome de déficit immunitaire combiné-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA | Syndrome d'immunodéficience combinée-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA · Syndrome de CID-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA · Syndrome de DIC-hypogammaglobulinémie-anomalies squelettiques par déficit en IKBKA · Syndrome de déficit immunitaire combiné-hypogammaglobulinémie-anomalies squelettiques par déficit en protéine IkappaB kinase alpha |
| de | Kombinierter Immundefekt mit Hypogammaglobulinämie und Skelettanomalien durch IKBKA-Mangel | CID mit Hypogammaglobulinämie und Skelettanomalien durch IKBKA-Defizienz · IKKA-Defekt |
| es | Síndrome de inmunodeficiencia combinada-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de IKBKA | Síndrome de IDC-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de IKBKA · Síndrome de inmunodeficiencia combinada-hipogammaglobulinemia-anomalías esqueléticas por deficiencia de la cinasa IkappaB-alfa |
| it | Sindrome immunodeficienza combinata-ipogammaglobulinemia-anomalie scheletriche da deficit di IKBKA | CID-ipogammaglobulinemia-anomalie scheletriche da deficit di IKBKA · Sindrome immunodeficienza combinata-ipogammaglobulinemia-anomalie scheletriche da deficit di IkappaB chinasi alfa |
| nl | Gecombineerde immuundeficiëntie - hypogammaglobulinemie - skeletanomalieën-syndroom door IKBKA-deficiëntie | CID - hypogammaglobulinemie - skeletanomalieën-syndroom door IKBKA-deficiëntie · Gecombineerde immuundeficiëntie - hypogammaglobulinemie - skeletanomalieën-syndroom door deficiëntie van IkappaB kinase alfa |
| pt | Combined immunodeficiency due to IKBKA deficiency | |
| pl | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency | = en |
| cs | Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency | = en |
2
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 (1):
- ORPHA:688571Combined immunodeficiency with low immunoglobulins and normal B cells
rare genetic diseases; rare immunological 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 |
|---|---|---|---|---|---|---|---|---|
| CHUK | Disease-causing germline mutation(s) in | Assessed | HGNC:1974 | ENSG00000213341 | 600664 | 10q24.31 | component of inhibitor of nuclear factor kappa B kinase complex | 34533979[PMID]_39812688[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 9 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/697403
- This record as JSON: /data/d/697403.json