Immunodeficiency due to a late component of complements deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Deficiency of complement of terminal pathway Immunodeficiency due to a C5 to C9 component complement deficiency |
| Number of Symptoms | 6 |
| OrphanetNr: | 169150 |
| OMIM Id: |
609536
610102 612446 613789 613790 613825 |
| 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:0006946) | Recurrent meningitis | 6 / 7739 | ||||
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(HPO:0002041) | Intractable diarrhea | 4 / 7739 | ||||
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(HPO:0007569) | Generalized seborrheic dermatitis | 1 / 7739 | ||||
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(HPO:0004431) | Complement deficiency | 10 / 7739 | ||||
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(HPO:0002719) | Recurrent infections | 107 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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