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Start free with EleplanF12-related hereditary angioedema with normal C1Inh
ORPHA:100054Clinical subtype
Also called F12-related HAE with normal C1 inhibitor · HAE 3 · HAE-III · Hereditary angioedema type 3 · Hereditary angioneurotic edema type 3 · Inherited estrogen-associated angioedema · Inherited estrogen-associated angioneurotic edema · Inherited estrogen-dependent angioedema · Inherited estrogen-dependent angioneurotic edema
What it is
A rare hereditary angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).
Key facts
- Age of onset
- Adult
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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