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Features include always present findings: Angioedema, Facial edema, and Swollen lip. 5 total HPO annotations.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Skin | 2 | Nailfold capillary tortuosity, Nail bed hemorrhage |
Head and neck |
MYOF encodes myoferlin (2,061 aa). Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Highest expression in Cells Cultured fibroblasts (232.1 TPM) and Artery Tibial (85.2 TPM).
Angioedema, hereditary, 7 is associated with mutations in the MYOF gene on chromosome 10.
MYOF is classified as a druggable target with score 0.0.
Genetic testing for MYOF is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for angioedema, hereditary, 7 has been reported in the published literature.
Phenotype severity distribution: 3 always present features.
No clinical trials have been registered for angioedema, hereditary, 7.
131 publications have been identified in PubMed for angioedema, hereditary, 7. Research spans Epidemiology / Natural History (28%), Clinical Trial Publication (22%), and Review / Meta-Analysis (15%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 36 | 28% |
Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 6:54 PM UTC
Online Mendelian Inheritance in Man
2
Facial edema, Swollen lip |
Clinical study results
28 |
22% |
Research summaries | 20 | 15% |
Patient case studies | 20 | 15% |
Laboratory research | 11 | 8% |
Testing and diagnosis research | 10 | 8% |
Other research | 3 | 2% |
New treatment approaches | 2 | 2% |
Craig TJ (2026). [PMID: 42268494](https://pubmed.ncbi.nlm.nih.gov/42268494/). *Adv Ther*. [Clinical Trial Publication]
Yarlas A (2026). [PMID: 41525239](https://pubmed.ncbi.nlm.nih.gov/41525239/). *Clin Transl Allergy*. [Epidemiology / Natural History]
Gerek AM (2026). [PMID: 42123147](https://pubmed.ncbi.nlm.nih.gov/42123147/). *J Clin Med*. [Epidemiology / Natural History]
Villa KF (2026). [PMID: 41565919](https://pubmed.ncbi.nlm.nih.gov/41565919/). *Patient*. [Clinical Trial Publication]
Perego F (2026). [PMID: 42166534](https://pubmed.ncbi.nlm.nih.gov/42166534/). *Clin Transl Allergy*. [Epidemiology / Natural History]
Broderick L (2026). [PMID: 41645251](https://pubmed.ncbi.nlm.nih.gov/41645251/). *Orphanet J Rare Dis*. [Other]
de Lange M (2026). [PMID: 42220494](https://pubmed.ncbi.nlm.nih.gov/42220494/). *Front Immunol*. [Case Report / Case Series]
Demidova A (2026). [PMID: 41974646](https://pubmed.ncbi.nlm.nih.gov/41974646/). *Clin Exp Allergy*. [Review / Meta-Analysis]
Glassman F (2026). [PMID: 40913454](https://pubmed.ncbi.nlm.nih.gov/40913454/). *J Clin Pharmacol*. [Clinical Trial Publication]
Zhi Y (2026). [PMID: 42136633](https://pubmed.ncbi.nlm.nih.gov/42136633/). *Front Immunol*. [Clinical Trial Publication]
AI-curated news mentioning angioedema, hereditary, 7
Updated Aug 17, 2026
A new study explores the link between recurrent angioedema and systemic lupus erythematosus, highlighting the role of complement activation. This research may provide insights into better management strategies for patients suffering from these conditions.
A recent publication highlights the importance of differentiating dermatomyositis from angioedema, emphasizing that misdiagnosis can lead to inappropriate treatment. This research underscores the need for heightened awareness among clinicians regarding this rare disease.