hereditary antithrombin deficiency
Findings
No curated finding names hereditary antithrombin deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0013144), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
- Onset and course
- Miscarriage
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased level of heparin co-factor IIHPOHP:0040226
- 1 of 1 reported patient
- Recurrent thrombophlebitisHPOHP:0004419
- 1 of 1 reported patient
- Reduced antithrombin antigenHPOHP:0040246
- Very frequent (80% to 99% of cases)
- Reduced antithrombin III activityHPOHP:0001976
- Very frequent (80% to 99% of cases)
- Deep venous thrombosisHPOHP:0002625
- Frequent (30% to 79% of cases)
- Pulmonary embolism
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SERPINC1HGNC:775
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Definitive · ClinGen · Semidominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Semidominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
- Limited · Ambry Genetics · Autosomal recessive · 2024
Where it sits
Other names
12 names
Resolves to: hereditary antithrombin deficiency
- Also called
- antithrombin 3 deficiencyAntithrombin Deficiencyantithrombin III deficiencyAT3Dcongenital antithrombin III deficiencycongenital AT-III deficiencyhereditary thrombophilia due to congenital antithrombin 3 deficiencyhereditary thrombophilia due to congenital antithrombin deficiencyinherited antithrombin deficiencythrombophilia 7 due to antithrombin III deficiencythrombophilia due to antithrombin 3 deficiencythrombophilia due to antithrombin III deficiency