ORPHA:688594
Combined immunodeficiency due to RELB deficiency
Synonyms: CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- 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 due to RELB deficiency | CID due to RELB deficiency · Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency |
| fr | Déficit immunitaire combiné par déficit en RELB | CID par déficit en RELB · DIC par déficit en RELB · Déficit immunitaire combiné par déficit en protéine RELB proto-oncogene NF-kB subunit · Immunodéficience combinée par déficit en RELB |
| de | Immundefekt, kombinierter, durch RELB-Defizienz | Kombinierter Immundefekt aufgrund eines Mangels an der NF-kB-Untereinheit des RELB-Protoonkogens · RelB-Defekt |
| es | Inmunodeficiencia combinada por deficiencia de RELB | IDC por deficiencia de RELB · Inmunodeficiencia combinada por deficiencia de la subunidad NF-kB del protooncogén RELB |
| it | Immunodeficienza combinata da deficit di RELB | |
| nl | Gecombineerde immuundeficiëntie door RELB-deficiëntie | CID door RELB-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van RELB proto-oncogen NF-kB-subeenheid |
| pt | Imunodeficiência combinada devido a deficiência RELB | CID devido a deficiência RELB · Imunodeficiência combinada devido a deficiência da subunidade NK-kB do proto-oncogene RELB |
| pl | Skojarzony niedobór odporności spowodowany niedoborem RELB | = en |
| cs | Kombinovaná imunodeficience způsobená nedostatkem RELB | = en |
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617585 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| MONDO | 54696 | 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:688563Combined immunodeficiency with normal Ig and poor specific antibody response
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:169355Immunodeficiency syndrome with autoimmunity
rare genetic diseases; rare immunological diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RELB | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9956 | ENSG00000104856 | 604758 | 19q13.32 | RELB proto-oncogene, NF-kB subunit | 39231201[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 39231201[PMID]_26385063[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 39231201[PMID]_26385063[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.
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/688594
- This record as JSON: /data/d/688594.json