Comprehensive, easy-to-understand information about this condition
How we create this content →Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Documentation for hereditary angioedema, particularly HAE5, is limited due to its rarity and the recent identification of the ANGPT1 gene's role in this condition. As fewer individuals are affected, there have been fewer systematic clinical studies, which hampers the understanding of its full clinical spectrum and management strategies. Ongoing research may help fill these gaps in knowledge.
The primary clinical feature of HAE5 is angioedema, which occurs in 100% of cases. Patients typically experience episodes of swelling that can be painful and may lead to complications if they affect the airway or gastrointestinal tract. The episodes can vary in frequency and severity, and they may be triggered by various factors, although specific triggers are not well documented in the literature.
To navigate HAE5, consider consulting a geneticist or a specialist in hereditary angioedema. Genetic counseling can provide insights into the implications of the ANGPT1 gene variant for you and your family. While there are currently no designated patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about any natural history studies related to hereditary angioedema that may be available for participation.
Actionable guidance for navigating care for angioedema, hereditary, 5
To navigate HAE5, consider consulting a geneticist or a specialist in hereditary angioedema. Genetic counseling can provide insights into the implications of the ANGPT1 gene variant for you and your family. While there are currently no designated patient organizations, resources such as the Genetic and Rare Diseases Information Center (GARD) at rarediseases.info.nih.gov can offer valuable information. Additionally, inquire about any natural history studies related to hereditary angioedema that may be available for participation.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Age of onset indicates when symptoms typically first appear.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 6, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 1 company has orphan drug designations for this disease
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.