Complement component 6 deficiency

Synonyms: C6 DEFICIENCY

Summary

Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene. [from MONDO]

Available tests

17 tests are in the database for this condition.

Clinical tests (17 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Associated genes Help
Genes reported to contribute to the condition.

C6
25 tests
Also known as: , C6
Summary: complement C6

Imported from Human Phenotype Ontology (HPO)

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Abnormality of the immune system
- Decreased circulating complement C6 concentration
  Decreased circulating complement C6 concentration
  - MedGen UID: 1841533
  - Concept ID: C5826369
  - Finding: Finding
  Abnormality of the immune system
  See: Feature record | Search on this feature
- Recurrent meningococcal disease
  Recurrent meningococcal disease
  - MedGen UID: 369692
  - Concept ID: C1970263
  - Finding: Finding
  Abnormality of the immune system
  See: Feature record | Search on this feature
- Reduced circulating CH50 activity
  Reduced circulating CH50 activity
  - MedGen UID: 1380457
  - Concept ID: C4476774
  - Finding: Finding
  Abnormality of the immune system
  See: Feature record | Search on this feature

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Clinical resources

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