ORPHA:528623
Hereditary angioedema with C1Inh deficiency
Also known as: HAE with C1 inhibitor deficiency · HAE with C1Inh deficiency · Hereditary angioneurotic edema with C1 inhibitor deficiency · Hereditary angioneurotic edema with C1Inh deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
97
62.4th percentile
Trials
0
Interventional, condition-specific
Researchers
941
Distinct authors in sample
Gene link
SERPING1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare angioedema characterized by potentially life-threatening episodes of subcutaneous and/or submucosal edema without urticaria, associated with C1 esterase inhibitor (C1-INH) deficiency. angioedema (HAE) type 1 is caused by quantitative, HAE type 2 by qualitative defects of C1-INH. The two subtypes are clinically indistinguishable. Patients may present at any age (but most commonly in childhood) with recurrent attacks of nonpitting edema of the skin, severe abdominal symptoms such as pain and swelling, and/or respiratory distress due to upper respiratory airways involvement. Genital, bladder, muscle, or joint swelling may occur in some cases.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0033946
- OMIM:106100
- UMLS:C4552294
Additional Mondo synonyms (2)
angioedema, hereditary, 1 and 2 · angioedema, hereditary, type 1/2
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SERPING1
- LiteraturePresent
97 matched papers (79 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 118 for broader category hereditary angioedema
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (SERPING1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
97
97 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
97 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
79 in the last 10 years · high confidence · 62.4th percentile (publications denominator)
Phrase hits: 97 · MeSH hits: 0
Who's working on it?
941
Distinct author names in 97 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01
- 02Bernstein JA10 papers · 2026
Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA.
Papers in Europe PMC - 03Banerji A9 papers · 2026
Division of Rheumatology, Allergy and Immunology, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114 USA
Papers in Europe PMC - 04Riedl MA9 papers · 2026
Division of Rheumatology, Allergy & Immunology, University of California San Diego, San Diego, CA, USA.
Papers in Europe PMC - 05Grumach AS8 papers · 2026
Department of Clinical Medicine, Faculty of Medicine ABC, São Paulo, Brazil,
Papers in Europe PMC - 06Kőhalmi KV7 papers · 2021
Hungarian Angioedema Center, 3rd Department of Internal Medicine, Semmelweis University, Kútvölgyi street 4, H-1125, Budapest, Hungary.
Papers in Europe PMC - 07
- 08
- 09
- 10
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 118 trials are registered for hereditary angioedema, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
118 interventional trials matched hereditary angioedema, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hereditary angioedema
118
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT04933721·ENROLLING BY INVITATION·Open-label Berotralstat Access to HAE Patients Previously Enrolled in Berotralstat Studies
Conditions: Hereditary Angioedema · HAE·Matched via name phrase
- NCT07654829·NOT YET RECRUITING·Safety and Effectiveness of Sebetralstat (KVD900) for Short-Term Prophylaxis Before Procedures in People With Hereditary Angioedema (KONTROL)
Conditions: Hereditary Angioedema·Matched via name phrase
- NCT07428499·RECRUITING·Phase 3 Extension Study of ADX-324 in Participants With Hereditary Angioedema (HAE)
Conditions: Hereditary Angioedema (HAE) · Hereditary Angioedema - Type 1 · Hereditary Angioedema - Type 2 · HAE·Matched via name phrase
- NCT05396105·ENROLLING BY INVITATION·Extension Study of Oral PHA-022121 for Acute Treatment of Angioedema Attacks in Patients With Hereditary Angioedema
Conditions: Hereditary Angioedema · Hereditary Angioedema Type I · Hereditary Angioedema Type II · Hereditary Angioedema Types I and II·Matched via name phrase
- NCT07204938·ENROLLING BY INVITATION·A Long-Term Study of Navenibart in Participants With Hereditary Angioedema
Conditions: Hereditary Angioedema (HAE)·Matched via name phrase
- NCT06960213·RECRUITING·STOP-HAE: A Phase 3 Study of ADX-324 in HAE
Conditions: Hereditary Angioedema · HAE · Hereditary Angioedema - Type 1 · Hereditary Angioedema - Type 2·Matched via name phrase
- NCT06679881·RECRUITING·Long-Term, Open-label Study of Oral Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults With HAE
Conditions: Hereditary Angioedema (HAE)·Matched via name phrase
- NCT06361537·RECRUITING·Study of IV Human Plasma-derived C1 Esterase Inhibitor Concentrate in Patients With Congenital C1-INH Deficiency for Treatment and Pre-procedure Preventing of Acute Hereditary Angioedema Attacks
Conditions: Acute Hereditary Angio Edema·Matched via name phrase
- NCT07293364·RECRUITING·A Study to Learn About the C1-Inhibitor Function as Diagnosis for Hereditary Angioedema
Conditions: Hereditary Angioedema (HAE)·Matched via name phrase
- NCT07046806·RECRUITING·Oral Deucrictibant for Prophylactic and Acute Treatment in Hereditary Angioedema Patients
Conditions: Hereditary Angioedema (HAE) · Angioedema · Bradykinin-mediated Angioedema · C1 Inhibitor Deficiency·Matched via name phrase
- NCT07298447·RECRUITING·Donidalorsen Treatment in Children With Hereditary Angioedema
Conditions: Hereditary Angioedema (HAE)·Matched via name phrase
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 on the overview but are not added to the query string.
"Hereditary angioedema with C1Inh deficiency" OR "HAE with C1 inhibitor deficiency" OR "HAE with C1Inh deficiency" OR "Hereditary angioneurotic edema with C1 inhibitor deficiency" OR "Hereditary angioneurotic edema with C1Inh deficiency" OR "angioedema, hereditary, 1 and 2" OR "angioedema, hereditary, type 1/2"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hereditary angioedema with C1Inh deficiency" OR "HAE with C1 inhibitor deficiency" OR "HAE with C1Inh deficiency" OR "Hereditary angioneurotic edema with C1 inhibitor deficiency" OR "Hereditary angioneurotic edema with C1Inh deficiency" OR "angioedema, hereditary, 1 and 2" OR "angioedema, hereditary, type 1/2" OR "SERPING1"
Recall-expansion terms: SERPING1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hereditary angioedema"
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
Ingested 2026-07-27T18:05:40.214Z