antithrombin III deficiency

Summary
Synonym
  • AT III deficiency
  • hereditary thrombophilia due to congenital antithrombin deficiency
Definition
A thrombophilia that is characterized by the tendency to form clots in the veins.
Super Class
autosomal dominant disease autosomal recessive disease thrombophilia
External Links
Disease Ontology
DOID:3755
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 29 in total
Gene ID Gene Symbol Description Source
28 ABO ABO, alpha 1-3-N-acetylgalactosaminyltransferase and alpha 1-3-galactosyltransferase
308 ANXA5 annexin A5
412 STS steroid sulfatase
1048 CEACAM5 CEA cell adhesion molecule 5
1087 CEACAM7 CEA cell adhesion molecule 7
1559 CYP2C9 cytochrome P450 family 2 subfamily C member 9
1636 ACE angiotensin I converting enzyme
1738 DLD dihydrolipoamide dehydrogenase
2717 GLA galactosidase alpha
3938 LCT lactase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024