ORPHA:317428
Combined immunodeficiency due to ORAI1 deficiency
Synonyms: CID due to ORAI1 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined immunodeficiency (CID) due to <i>ORAI1</i> deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to ORAI1 deficiency | CID due to ORAI1 deficiency |
| fr | Déficit immunitaire combiné par déficit en ORAI1 | CID par déficit en ORAI1 · DIC par déficit en ORAI1 · Immunodéficience combinée par déficit en ORAI1 |
| de | Immundefekt, kombinierter, durch ORAI1-Mangel | CID durch ORAI1-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de ORAI1 | CID por deficiencia de ORAI1 |
| it | Immunodeficienza combinata da deficit di ORAI1 | CID da deficit di ORAI1 |
| nl | Gecombineerde immuundeficiëntie door ORAI1-deficiëntie | CID door ORAI1-deficiëntie |
| pt | Imunodeficiência combinada devido à deficiência de ORAI1 | CID devido à deficiência de ORAI1 |
| pl | Złożony Niedobór odporności z powodu deficytu ORAI1 | CID z powodu niedoboru ORAI1 |
| cs | Kombinovaná imunodeficience způsobená ORAI1 deficitem | CID způsobená ORAI1 deficitem |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом ORAI1 | КІД через дефіцит ORAI1 |
| zh | ORAI1基因缺陷所致联合免疫缺陷 | ORAI1基因缺陷所致CID |
| tr | ORAI1 eksikliğine bağlı kombine immün yetmezlik | ORAI1 eksikliğine bağlı CID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612782 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0013007 | E | validated | |
| UMLS | C2748568 | E | validated | |
| GARD | 10524 | 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 (1):
- ORPHA:169090Combined immunodeficiency due to CRAC channel dysfunction
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 |
|---|---|---|---|---|---|---|---|---|
| ORAI1 | Disease-causing germline mutation(s) in | Assessed | HGNC:25896 | ENSG00000276045 | 610277 | 12q24.31 | ORAI calcium release-activated calcium modulator 1 |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 20004786[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20004786[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.
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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/317428
- This record as JSON: /data/d/317428.json