ORPHA:317430
Combined immunodeficiency due to STIM1 deficiency
Synonyms: CID due to STIM1 deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Combined immunodeficiency (CID) due to <i>STIM1</i> deficiency is a form of CID due to Calcium release activated Ca2+(CRAC) channel dysfunction characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Combined immunodeficiency due to STIM1 deficiency | CID due to STIM1 deficiency |
| fr | Déficit immunitaire combiné par déficit en STIM1 | CID par déficit en STIM1 · DIC par déficit en STIM1 · Immunodéficience combinée par déficit en STIM1 |
| de | Immundefekt, kombinierter, durch STIM1-Mangel | CID durch STIM1-Mangel |
| es | Inmunodeficiencia combinada por deficiencia de STIM1 | CID por deficiencia de STIM1 |
| it | Immunodeficienza combinata da deficit di STIM1 | CID da deficit di STIM1 |
| nl | Gecombineerde immuundeficiëntie door STIM1-deficiëntie | CID door STIM1-deficiëntie |
| pt | Imunodeficiência combinada devido à deficiência de STMI1 | CID devido à deficiência de STIM1 |
| pl | Złożony Niedobór odporności z powodu deficytu STIM1 | CID z powodu deficytu STIM1 |
| cs | Kombinovaná imunodeficience způsobená deficitem STIM1 | CID způsobená deficitem STIM1 |
| uk | Комбінований імунодефіцит, зумовлений дефіцитом STIM1 | КІД через дефіцит STIM1 |
| zh | STIM1基因缺陷所致联合免疫缺陷 | SIM1基因缺陷所致CID |
| tr | STIM1 eksikliğine bağlı kombine immün yetmezlik | STIM1 eksikliğine bağlı CID |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612783 | E | validated | |
| ICD-10 | D81.8 | NTBT | attributed | validated |
| ICD-11 | 4A01.1Y | NTBT | index | validated |
| MONDO | 0013008 | E | validated | |
| UMLS | C2748557 | E | validated | |
| GARD | 10523 | 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:169090Combined immunodeficiency due to CRAC channel dysfunction
rare genetic diseases; rare immunological diseases; rare transplant-related disorders - ORPHA:717757Rare immune disease with inflammatory bowel disease
rare gastroenterological diseases; rare genetic 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 |
|---|---|---|---|---|---|---|---|---|
| STIM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:11386 | ENSG00000167323 | 605921 | 11p15.4 | stromal interaction molecule 1 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet 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/317430
- This record as JSON: /data/d/317430.json