ORPHA:699578
Combined immunodeficiency with low Ig due to BCL10 deficiency
Synonyms: CID with low Ig due to BCL10 deficiency · Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- 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 with low Ig due to BCL10 deficiency | CID with low Ig due to BCL10 deficiency · Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency |
| fr | Déficit immunitaire combiné avec faibles Ig par déficit en BCL10 | CID avec faibles Ig par déficit en BCL10 · DIC avec faibles Ig par déficit en BCL10 · Déficit immunitaire combiné avec immuloglobulines faibles par déficit en protéine B-cell lymphoma 10 immune signaling adaptor · Immunodéficience combinée avec faibles Ig par déficit en BCL10 |
| de | Immundefekt, kombinierter, durch BCL10-Mangel | CID durch BCL10-Defizienz |
| es | Inmunodeficiencia combinada con niveles bajos de Ig por deficiencia de BCL10 | IDC con niveles bajos de Ig por deficiencia de BCL10 · Inmunodeficiencia combinada con niveles bajos de Ig por deficiencia del adaptador de señalización inmunológica del linfoma de células B10 |
| it | Immunodeficienza combinata con livelli bassi di Ig da deficit di BCL10 | CID con livelli bassi di Ig da deficit di BCL10 · Immunodeficienza combinata con livelli bassi di Ig da deficit dell'adattatore di segnalazione immunitaria del linfoma a cellule B 10 |
| nl | Gecombineerde immuundeficiëntie met lage Ig door BCL10-deficiëntie | CID met lage Ig door BCL10-deficiëntie · Gecombineerde immuundeficiëntie met lage Ig door deficiëntie van adaptor van B-cellymfoom 10 immuunsignalering |
| pt | Combined immunodeficiency with low Ig due to BCL10 deficiency | |
| pl | Combined immunodeficiency with low Ig due to BCL10 deficiency | = en |
| cs | Combined immunodeficiency with low Ig due to BCL10 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | D84.8 | NTBT | attributed | not yet validated |
| ICD-11 | 4A01.1Y | NTBT | attributed | not yet 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: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
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 38129623[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 38129623[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.
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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/699578
- This record as JSON: /data/d/699578.json