Immunodeficiency due to an early component of complement deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Immunodeficiency due to a C1, C4, or C2 component complement deficiency |
| Number of Symptoms | 2 |
| OrphanetNr: | 169147 |
| OMIM Id: |
120790
216950 217000 613652 613783 614379 614380 |
| ICD-10: |
D84.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Immunodeficiency due to a complement cascade protein anomaly
-Rare genetic disease -Rare immune disease |
Symptom Information:
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(HPO:0002725) | Systemic lupus erythematosus | 14 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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