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ORPHA:100054

F12-related hereditary angioedema with normal C1Inh

low confidenceSubtype of disorder

Also known as: F12-related HAE with normal C1 inhibitor · HAE 3 · HAE-III · Hereditary angioedema type 3 · Hereditary angioneurotic edema type 3 · Inherited estrogen-associated angioedema · Inherited estrogen-associated angioneurotic edema · Inherited estrogen-dependent angioedema · Inherited estrogen-dependent angioneurotic edema

Publications

5,399

Trials

2

Interventional, condition-specific

Researchers

1,271

Distinct authors in sample

Gene link

F12

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare angioedema characterized by normal serum levels and function of C1 inhibitor, normal C1 activity, and, clinically, recurrent subcutaneous edema, abdominal pain attacks, and episodes of potentially life-threatening upper airway obstruction. The disorder occurs almost exclusively in women, and episodes are often precipitated or worsened by high estrogen levels (such as during pregnancy or treatment with oral contraceptives).

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (12)

F12 hereditary angioedema · angioedema, hereditary, 3 · hereditary angioedema caused by mutation in F12 · hereditary angioedema type 3 · hereditary angioneurotic edema type 3 · hereditary angioneurotic oedema type 3 · inherited estrogen-associated angioedema · inherited estrogen-associated angioneurotic edema · inherited estrogen-associated angioneurotic oedema · inherited estrogen-dependent angioedema · inherited estrogen-dependent angioneurotic edema · inherited estrogen-dependent angioneurotic oedema

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

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — F12

  2. LiteraturePresent

    5,399 matched papers (800 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    2 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (F12).

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?

5,399

5,399 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=5449) is 41.

5,399 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).

800 in the last 10 years · low confidence

Phrase hits: 5,396 · MeSH hits: 3

Open Europe PMC search

Who's working on it?

1,271

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.

  1. 01
    Liu Y5 papers · 2026

    Institute of Psychiatry and Neuroscience, Xinxiang Medical University, Xinxiang, He'nan 453003, China.

    Papers in Europe PMC
  2. 02
    Wang X5 papers · 2026

    School of Life Sciences, East China Normal University, Shanghai, China.

    Papers in Europe PMC
  3. 03
    Laurenti MD4 papers · 2025

    Universidade de São Paulo, Faculdade de Medicina, Laboratório de Patologia de Moléstias Infecciosas, São Paulo, São Paulo, Brazil.

    Papers in Europe PMC
  4. 04
    Liu J4 papers · 2026

    Crop Research Institute, Shandong Academy of Agricultural Sciences/Key Laboratory of Wheat Biology and Genetic Improvement in the North Yellow & Huai River Valley, Ministry of Agriculture/National Engineering Laboratory for Wheat & Maize, Jinan, 250100, China. ljjsaas@163.com.

    Papers in Europe PMC
  5. 05
    Li G3 papers · 2019

    Crop Research Institute, Shandong Academy of Agricultural Sciences/Key Laboratory of Wheat Biology and Genetic Improvement in the North Yellow & Huai River Valley, Ministry of Agriculture/National Engineering Laboratory for Wheat & Maize, Jinan, 250100, China.

    Papers in Europe PMC
  6. 06
    Li Z3 papers · 2024

    Department of Clinical Laboratory, Qinghai Provincial People's Hospital, Xining, China.

    Papers in Europe PMC
  7. 07
    Rahi M3 papers · 2025

    ICMR-Vector Control Research Centre, Puducherry, India.

    Papers in Europe PMC
  8. 08
    Tanaka Y3 papers · 2025

    Department of Virology and Liver Unit, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan. ytanaka@kumamoto-u.ac.jp.

    Papers in Europe PMC
  9. 09
    Walker JC3 papers · 2024

    Division of Biological Sciences, University of Missouri, Columbia, Missouri, USA.

    Papers in Europe PMC
  10. 10
    Yang Y3 papers · 2026

    Institute of Crop Germplasm Resources, Shandong Academy of Agricultural Sciences, Jinan, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 116 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

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

2 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: hereditary angioedema

116

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

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.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"F12-related hereditary angioedema with normal C1Inh" OR "F12-related HAE with normal C1 inhibitor" OR "HAE 3" OR "HAE-III" OR "Hereditary angioedema type 3" OR "Hereditary angioneurotic edema type 3" OR "Inherited estrogen-associated angioedema" OR "Inherited estrogen-associated angioneurotic edema" OR "Inherited estrogen-dependent angioedema" OR "Inherited estrogen-dependent angioneurotic edema" OR "F12 hereditary angioedema" OR "angioedema, hereditary, 3" OR "hereditary angioedema caused by mutation in F12" OR "hereditary angioneurotic oedema type 3" OR "inherited estrogen-associated angioneurotic oedema" OR "inherited estrogen-dependent angioneurotic oedema"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Hereditary Angioedema Type III

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"F12-related hereditary angioedema with normal C1Inh" OR "F12-related HAE with normal C1 inhibitor" OR "HAE 3" OR "HAE-III" OR "Hereditary angioedema type 3" OR "Hereditary angioneurotic edema type 3" OR "Inherited estrogen-associated angioedema" OR "Inherited estrogen-associated angioneurotic edema" OR "Inherited estrogen-dependent angioedema" OR "Inherited estrogen-dependent angioneurotic edema" OR "F12 hereditary angioedema" OR "angioedema, hereditary, 3" OR "hereditary angioedema caused by mutation in F12" OR "hereditary angioneurotic oedema type 3" OR "inherited estrogen-associated angioneurotic oedema" OR "inherited estrogen-dependent angioneurotic oedema" OR "Hereditary Angioedema Type III" OR "F12"

Recall-expansion terms: F12

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"hereditary angioedema"

Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh

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 (5399) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-27T06:58:25.633Z