ORPHA:82
Hereditary thrombophilia due to congenital antithrombin deficiency
Also known as: Hereditary thrombophilia due to congenital antithrombin 3 deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
4,673
95.6th percentile
Trials
11
Interventional, condition-specific
Researchers
1,051
Distinct authors in sample
Gene link
SERPINC1
Definitive
Readiness
3/6
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).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013144
- MeSH:D020152
- OMIM:613118
- UMLS:C0272375
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — SERPINC1
- LiteraturePresent
4,673 matched papers (2,067 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 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)
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?
4,673
4,673 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=5449) is 41.
4,673 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).
2,067 in the last 10 years · medium confidence · 95.6th percentile (publications denominator)
Phrase hits: 4,673 · MeSH hits: 0
Who's working on it?
1,051
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.
- 01Corral J14 papers · 2026
Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Papers in Europe PMC - 02de la Morena-Barrio ME11 papers · 2026
Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Papers in Europe PMC - 03Morishita E9 papers · 2025
Department of Laboratory Sciences, College of Medical, Pharmaceutical and Health Sciences, Kanazawa University, 5-11-80 Kodatsuno, Kanazawa, Ishikawa, 920-0942, Japan.
Papers in Europe PMC - 04de la Morena-Barrio B8 papers · 2026
Regional Hemodonation Center, University of Murcia, IMIB-Arrixaca, CIBERER, Murcia, Spain
Papers in Europe PMC - 05Bravo-Pérez C6 papers · 2026
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, IMIB, CIBERER, Universidad de Murcia, Murcia, Spain.
Papers in Europe PMC - 06Orlando C6 papers · 2026
Vrije Universiteit Brussel (VUB), Universitair Ziekenhuis Brussel (UZ Brussel) Department of Haematology, Brussels, Belgium.
Papers in Europe PMC - 07Vicente V6 papers · 2026
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, IMIB, CIBERER, Universidad de Murcia, Murcia, Spain.
Papers in Europe PMC - 08Wang M6 papers · 2026
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China. Electronic address: wywms@126.com.
Papers in Europe PMC - 09Padilla J5 papers · 2026
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, IMIB, CIBERER, Universidad de Murcia, Murcia, Spain.
Papers in Europe PMC - 10Hunt BJ4 papers · 2026
Haemostasis and Thrombosis Centre, Guys and St Thomas' NHS Foundation Trust, London, UK; Haematology Department, King's Healthcare Partners, London, UK.
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 27 July 2026
11 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 92.1th percentile).
medium confidence · 92.1th 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.
- NCT04918173·RECRUITING·Efficacy of Atenativ in Patients With Congenital Antithrombin Deficiency Undergoing Surgery or Delivery
Conditions: Congenital Antithrombin Deficiency·Matched via name phrase
- NCT06096116·RECRUITING·Phase 3 Study on the Efficacy and Safety of Human Plasma Derived Antithrombin (Atenativ) in Heparin-Resistant Patients Scheduled to Undergo Cardiac Surgery Necessitating Cardiopulmonary Bypass
Conditions: Acquired Antithrombin Deficiency·Matched via name phrase
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
- NCT05891899·NOT YET RECRUITING·Belgian Antithrombin Deficiency Registry
Conditions: Antithrombin III Deficiency·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 2026-07-26This 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"
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" OR "SERPINC1"
Recall-expansion terms: SERPINC1
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: suspect — strategies attempted: phrase, recall-expansion; 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