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ORPHA:82

Hereditary thrombophilia due to congenital antithrombin deficiency

medium confidenceDisorder

Also known as: Hereditary thrombophilia due to congenital antithrombin 3 deficiency

Publications

10,175

94.8th percentile

Trials

11

Interventional, condition-specific

Researchers

1,041

Distinct authors in sample

Gene link

SERPINC1

Definitive

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

thrombophilia due to antithrombin deficiency is a rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins).

How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).

Orphanet entry

Cross-references

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

Additional Mondo synonyms (13)

AT3D · Antithrombin Deficiency · antithrombin 3 deficiency · antithrombin III deficiency · congenital AT-III deficiency · congenital antithrombin III deficiency · hereditary antithrombin deficiency · hereditary thrombophilia due to congenital antithrombin 3 deficiency · hereditary thrombophilia due to congenital antithrombin deficiency · inherited antithrombin deficiency · thrombophilia 7 due to antithrombin III deficiency · thrombophilia due to antithrombin 3 deficiency · thrombophilia due to antithrombin III deficiency

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Definitive — SERPINC1

  2. LiteraturePresent

    10,175 matched papers (5,319 in last 10 years) Source

  3. Phenotype characterisedPresent

    19 HPO annotations (e.g. Arterial occlusion; Reduced antithrombin III activity; Decreased level of heparin co-factor II) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    11 matched on ClinicalTrials.gov (2 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 (SERPINC1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

19

Associated phenotypes · MONDO:0013144

  • Arterial occlusion
  • Reduced antithrombin III activity
  • Decreased level of heparin co-factor II
  • Pulmonary embolism
  • Deep venous thrombosis

Showing 5 of 19 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

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

1

Drugs / clinical candidates · MONDO_0013144

CTD chemicals (MyDisease.info)

1 associated chemical · 5 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Heparin · therapeutic

Pathways: Complement and coagulation cascades; Hemostasis; Intrinsic Pathway of Fibrin Clot Formation; Common Pathway of Fibrin Clot Formation; Formation of Fibrin Clot (Clotting Cascade)

MyDisease.info · MONDO:0013144

Literature

Is anyone studying this?

10,175

10,175 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.

10,175 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).

5,319 in the last 10 years · medium confidence · 94.8th percentile (publications denominator)

Phrase hits: 4,673 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,041

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
    Corral J20 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  2. 02
    de la Morena-Barrio ME16 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  3. 03
    de la Morena-Barrio B12 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  4. 04
    Bravo-Pérez C11 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  5. 05
    Vicente V9 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  6. 06
    Morishita E8 papers · 2025

    Department of Clinical Laboratory Science, Division of Health Sciences, Graduate School of Medical Science, Kanazawa University, Kanazawa, Ishikawa, Japan; Department of Hematology, Kanazawa University Hospital, Kanazawa, Ishikawa, Japan. Electronic address: eriko86@staff.kanazawa-u.ac.jp.

    Papers in Europe PMC
  7. 07
    Padilla J8 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  8. 08
    Miñano A7 papers · 2026

    Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain.

    Papers in Europe PMC
  9. 09
    Orlando C6 papers · 2026

    Department of Hematology, Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel), Brussels, Belgium.

    Papers in Europe PMC
  10. 10
    Wang M6 papers · 2026

    Department of Clinical Laboratory, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China, wywms@126.com.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

11

interventional trials for this specific condition

11 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 7 trials are registered for thrombophilia, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

11 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92.8th percentile).

medium confidence · 92.8th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: thrombophilia

7

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.

Observational and natural-history studies

4 observational studies match 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

Open the complete matched search on ClinicalTrials.gov

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 15 · after dedupe 15 · already on CT.gov 2 · kept 0 · parent 0 · uncertain 13 · dropped 0 · fetched 2026-07-29

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 (13)

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 thrombophilia due to congenital antithrombin deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

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 thrombophilia due to congenital antithrombin deficiency" OR "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" OR "Antithrombin Deficiency" OR "antithrombin 3 deficiency" OR "antithrombin III deficiency" OR "congenital AT-III deficiency" OR "congenital antithrombin III deficiency" OR "hereditary antithrombin deficiency" OR "inherited antithrombin deficiency" OR "thrombophilia 7 due to antithrombin III deficiency" OR "thrombophilia due to antithrombin 3 deficiency" OR "thrombophilia due to antithrombin III deficiency") OR ("SERPINC1" OR "SERPINC1 syndrome" OR "SERPINC1-related")

Run this search on Europe PMC

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

"Hereditary thrombophilia due to congenital antithrombin deficiency" OR "Hereditary thrombophilia due to congenital antithrombin 3 deficiency" OR "Antithrombin Deficiency" OR "antithrombin 3 deficiency" OR "antithrombin III deficiency" OR "congenital AT-III deficiency" OR "congenital antithrombin III deficiency" OR "hereditary antithrombin deficiency" OR "inherited antithrombin deficiency" OR "thrombophilia 7 due to antithrombin III deficiency" OR "thrombophilia due to antithrombin 3 deficiency" OR "thrombophilia due to antithrombin III 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: 11 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"thrombophilia"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: AT3D

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T12:20:53.098Z