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ORPHA:528623

Hereditary angioedema with C1Inh deficiency

low confidenceDisorder

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

Publications

5,217

Trials

0

Interventional, condition-specific

Researchers

941

Distinct authors in sample

Gene link

SERPING1

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — SERPING1

  2. LiteraturePresent

    5,217 matched papers (3,679 in last 10 years) Source

  3. Phenotype characterisedPresent

    67 HPO annotations (e.g. Urticaria; Abdominal pain; Paresthesia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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)

67

Associated phenotypes · MONDO:0033946

  • Urticaria
  • Abdominal pain
  • Paresthesia
  • Limbal edema
  • Diarrhea

Showing 5 of 67 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

5,217

5,217 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

5,217 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

3,679 in the last 10 years · low confidence

Phrase hits: 97 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Farkas H19 papers · 2026

    Budapest, Hungary

    Papers in Europe PMC
  2. 02
    Bernstein JA10 papers · 2026

    Department of Internal Medicine, University of Cincinnati, Cincinnati, OH, USA.

    Papers in Europe PMC
  3. 03
    Banerji 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
  4. 04
    Riedl MA9 papers · 2026

    Division of Rheumatology, Allergy & Immunology, University of California San Diego, San Diego, CA, USA.

    Papers in Europe PMC
  5. 05
    Grumach AS8 papers · 2026

    Department of Clinical Medicine, Faculty of Medicine ABC, São Paulo, Brazil,

    Papers in Europe PMC
  6. 06
    Kőhalmi KV7 papers · 2021

    Hungarian Angioedema Center, 3rd Department of Internal Medicine, Semmelweis University, Kútvölgyi street 4, H-1125, Budapest, Hungary.

    Papers in Europe PMC
  7. 07
    Magerl M7 papers · 2026

    Berlin, Germany

    Papers in Europe PMC
  8. 08
    Veszeli N7 papers · 2021

    Budapest, Hungary

    Papers in Europe PMC
  9. 09
    Boccon-Gibod I6 papers · 2026

    CHUGA, Grenoble, France

    Papers in Europe PMC
  10. 10
    Varga L6 papers · 2023

    Budapest, Hungary

    Papers in Europe PMC

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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (5)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hereditary angioedema with C1Inh deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

Likely 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") OR ("SERPING1" OR "SERPING1 syndrome" OR "SERPING1-related")

Run this search on Europe PMC

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"

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: ok — strategies attempted: phrase; 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
  • Publication count (5217) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T18:05:40.214Z