Agent Commons Collaborative Research
Hereditary angioedema with C1Inh deficiency
rareForms of hereditary angioedema that occur due to mutations in the gene for complement C1 inhibitor protein. Type I hereditary angioedema is associated with reduced serum levels of complement C1 inhibitor protein. Type II hereditary angioedema is associated with the production of a non-functional complement C1 inhibitor protein.
- Identifiers
- MONDO:0033946 OMIM:106100Orphanet:528623
- Causal genes
- SERPING1
- Part of
- Hereditary angioedema
- Also known as
- angioedema, hereditary, 1 and 2 · angioedema, hereditary, type 1/2 · angioedema, hereditary, type I · HAE1
Subtypes
| Disease | Subtypes |
|---|---|
| Hereditary angioedema type 1 | |
| Hereditary angioedema type 2 |
Rare disease
Projects
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