ORPHA:697394
Combined immunodeficiency due to c-REL deficiency
Synonyms: CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, 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 c-REL deficiency | CID due to c-REL deficiency · Combined immunodeficiency due to cellular homolog of v-Rel deficiency |
| fr | Déficit immunitaire combiné par déficit en c-REL | CID par déficit en c-REL · DIC par déficit en c-REL · Déficit immunitaire combiné par déficit en protéine cellular homolog of v-Rel · Immunodéficience combinée par déficit en c-REL |
| de | Immundefekt, kombinierter, durch c-REL-Mangel | CID durch c-REL-Defizienz |
| es | Inmunodeficiencia combinada por deficiencia de c-REL | IDC por deficiencia de c-REL · Inmunodeficiencia combinada por deficiencia del homólogo celular de v-Rel |
| it | Immunodeficienza combinata da deficit di c-REL | CID da deficit di c-REL · Immunodeficienza combinata da deficit dell'omologo cellulare di v-Rel |
| nl | Gecombineerde immuundeficiëntie door c-REL-deficiëntie | CID door c-REL-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van cellulair homoloog van v-Rel |
| pt | Combined immunodeficiency due to c-REL deficiency | |
| pl | Combined immunodeficiency due to c-REL deficiency | = en |
| cs | Combined immunodeficiency due to c-REL deficiency | = en |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 619652 | E | validated | |
| 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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| REL | Disease-causing germline mutation(s) in | Assessed | HGNC:9954 | ENSG00000162924 | 164910 | 2p16.1 | REL proto-oncogene, NF-kB subunit | 31103457[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 31103457[PMID]_34623332[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 31103457[PMID]_34623332[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/697394
- This record as JSON: /data/d/697394.json