ORPHA:100050
Hereditary angioedema type 1
Also known as: Hereditary angioneurotic edema type 1 · HAE 1 · HAE-I
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A form of angioedema characterized by acute edema in subcutaneous tissues, viscera and/or the upper airway.
How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.
Is anyone studying this?
1,085
1,085 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
1,085 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
670 in the last 10 years · high confidence · 91.5th percentile (publications denominator)
Is a treatment being tested?
6
trials for this specific condition
6 interventional trials matched this specific condition name; 3 currently recruiting in our sample. 112 trials are registered for hereditary angioedema, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
112
trials for hereditary angioedema, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
6 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 83.7th percentile).
high confidence · 83.7th percentile (trials denominator)
Do we know what causes it?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Who's working on it?
1,385
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Magerl M12 papers · 2026
Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 02Farkas H10 papers · 2026
Department of Internal Medicine, Hungarian Angioedema Center of Reference and Excellence, Haematology Semmelweis University, Budapest, Hungary.
Papers in Europe PMC - 03Maurer M10 papers · 2026
Department of Dermatology and Allergy, Charité-Universitätsmedizin Berlin, Berlin, Germany.
Papers in Europe PMC - 04Aygören-Pürsün E9 papers · 2026
Goethe-Universität Frankfurt am Main, Frankfurt am Main, Germany.
Papers in Europe PMC - 05Zanichelli A8 papers · 2026
Department of Biomedical and Clinical Science Luigi Sacco, University of Milan, Milan, Italy.
Papers in Europe PMC - 06Bouillet L6 papers · 2026
Department of Internal Medicine, National Reference Centre for Angioedema (CREAK), INSERM-CNRS-CEA, CHU Grenoble, Université Grenoble Alpes, Joint Unit, 1036, Grenoble, France.
Papers in Europe PMC - 07
- 08Grumach AS6 papers · 2026
Clinical Immunology, Faculdade de Medicina ABC, São Paulo, Brazil.
Papers in Europe PMC - 09Lacuesta G6 papers · 2025
Department of Medicine, Dalhousie University, Halifax, Nova Scotia Canada.
Papers in Europe PMC - 10Longhurst H6 papers · 2025
Department of Immunology, Barts and the London NHS Trust, London, England, UK.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
6 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26Likely covered — the policy lists Hereditary angioedema as a category (Group 3), and this condition is a form of it. Confirm eligibility with a Centre of Excellence.
Group 3 — high-cost / lifelong therapy with careful selection
Up to ₹50 lakh per patient
Financial support at notified Centres of Excellence is the figure commonly cited in recent MoHFW/PIB statements. Many Group 3 patients also use the MoHFW voluntary-contribution / crowdfunding portal.
Eligibility and patient selection rules change. Verify with a CoE; the crowdfunding portal is a separate mechanism from CoE funding. Verify
Centres of Excellence (15)
- All India Institute of Medical Sciences (AIIMS) — New Delhi, Delhi
- Maulana Azad Medical College — New Delhi, Delhi
- Sanjay Gandhi Post Graduate Institute of Medical Sciences — Lucknow, Uttar Pradesh
- Post Graduate Institute of Medical Education and Research (PGIMER) — Chandigarh, Chandigarh
- Centre for DNA Fingerprinting & Diagnostics with Nizam’s Institute of Medical Sciences — Hyderabad, Telangana
- King Edward Memorial Hospital — Mumbai, Maharashtra
- Institute of Post-Graduate Medical Education and Research (IPGMER) — Kolkata, West Bengal
- Centre for Human Genetics with Indira Gandhi Hospital — Bengaluru, Karnataka
- Institute of Child Health and Hospital for Children (ICH & HC) — Chennai, Tamil Nadu
- All India Institute of Medical Sciences (AIIMS) — Jodhpur, Rajasthan
- Sree Avittam Thirunal Hospital (SAT), Government Medical College — Thiruvananthapuram, Kerala
- All India Institute of Medical Sciences (AIIMS) — Bhopal, Madhya Pradesh
- Regional Institute of Medical Sciences (RIMS) — Imphal, Manipur
- All India Institute of Medical Sciences (AIIMS) — Patna, Bihar
- Assam Medical College & Hospital — Dibrugarh, Assam
Voluntary contributions / crowdfunding (separate from CoE funding): https://rarediseases.mohfw.gov.in/
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored below but are not added to the query string.
"Hereditary angioedema type 1" OR "Hereditary angioneurotic edema type 1" OR "HAE 1" OR "HAE-I" OR "hereditary angioneurotic oedema type 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary angioedema type 1" OR "Hereditary angioneurotic edema type 1" OR "HAE 1" OR "HAE-I" OR "hereditary angioneurotic oedema type 1" OR "hereditary angioedema with C1Inh deficiency"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 6 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C2717906
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus