Details of Disease | DrugMAP

General Information of Disease (ID: DIS37I0W)

Disease Name	Hereditary antithrombin deficiency
Synonyms	thrombophilia due to antithrombin III deficiency; antithrombin III deficiency; inherited antithrombin deficiency; antithrombin 3 deficiency; AT III deficiency; thrombophilia due to antithrombin 3 deficiency; hereditary thrombophilia due to congenital antithrombin 3 deficiency; thrombophilia 7 due to antithrombin III deficiency; AT3D; congenital AT-III deficiency; congenital antithrombin III deficiency; Antithrombin Deficiency; hereditary antithrombin deficiency; hereditary thrombophilia due to congenital antithrombin deficiency
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).
Disease Hierarchy	DISKV001: Osteonecrosis of genetic origin DISH7JDC: Secondary avascular necrosis DISFG8KS: Inherited thrombophilia DIS37I0W: Hereditary antithrombin deficiency
Disease Identifiers	MONDO ID MONDO_0013144 MESH ID D020152 UMLS CUI C0272375 OMIM ID 613118 MedGen ID 75781 HPO ID HP:0001976 Orphanet ID 82 SNOMED CT ID 36351005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
F2	TT6L509	Limited	Genetic Variation	[1]
F5	TT1O264	Limited	Genetic Variation	[1]
PROC	TTZUXYS	Strong	Genetic Variation	[2]
SERPINC1	TTZ4MD5	Definitive	Semidominant	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PC	OT6O0V51	Strong	Biomarker	[4]
SERPINC1	OTDFATG0	Definitive	Semidominant	[3]
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References

1	Genetic Risk Factors of Venous Thromboembolism in the East Algerian Population.Clin Appl Thromb Hemost. 2017 Mar;23(2):105-115. doi: 10.1177/1076029615600789. Epub 2016 Jul 10.
2	Antithrombin deficiency and decreased protein C activity in a young man with venous thromboembolism: a case report.Front Med. 2018 Jun;12(3):319-323. doi: 10.1007/s11684-017-0553-4. Epub 2017 Aug 31.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
4	Thrombophilia among Chinese women with venous thromboembolism during pregnancy.Gynecol Obstet Invest. 2012;73(3):183-8. doi: 10.1159/000331648. Epub 2012 Mar 6.