ORPHA:718017
Combined immunodeficiency due to COPG1 deficiency
Synonyms: CID due to COPG1 deficiency · Combined immunodeficiency due to coat complex subunit gamma 1 deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood, 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 due to COPG1 deficiency | CID due to COPG1 deficiency · Combined immunodeficiency due to coat complex subunit gamma 1 deficiency |
| fr | Déficit immunitaire combiné par déficit en protéine COPG1 | CID par déficit en COPG1 · DIC par déficit en COPG1 · Déficit immunitaire combiné par déficit en protéine coat complex subunit gamma 1 · Immunodéficience combinée par déficit en protéine COPG1 |
| de | Immundefekt, kombinierter, durch COPG1-Mangel | CID durch COPG1-Defizienz · Kombinierter Immundefekt durch Defekt der Gamma-1-Untereinheit des COPI-Coatomer |
| es | Inmunodeficiencia combinada por deficiencia de COPG1 | CID por deficiencia de COPG1 · IDC por deficiencia de COPG1 · Inmunodeficiencia combinada por deficiencia de la subunidad gamma 1 del complejo coatómero |
| it | Immunodeficienza combinata da deficit di COPG1 | CID da deficit di COPG1 · Immunodeficienza combinata da deficit della subunità gamma 1 del complesso di rivestimento |
| nl | Gecombineerde immuundeficiëntie door COPG1-deficiëntie | CID door COPG1-deficiëntie · Gecombineerde immuundeficiëntie door deficiëntie van 'coat complex' subeenheid gamma 1 |
| pt | Combined immunodeficiency due to COPG1 deficiency | |
| pl | Combined immunodeficiency due to COPG1 deficiency | = en |
| cs | Combined immunodeficiency due to COPG1 deficiency | = en |
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Cross-references
qualifier = Orphanet mapping relationE 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:688563Combined immunodeficiency with normal Ig and poor specific antibody response
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 |
|---|---|---|---|---|---|---|---|---|
| COPG1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2236 | ENSG00000181789 | 615525 | 3q21.3 | coat protein complex I subunit gamma 1 | 33529166[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 33529166[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 33529166[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/718017
- This record as JSON: /data/d/718017.json