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 11 - 20 of 29 in total
Gene ID Gene Symbol Description Source
4153 MBL2 mannose binding lectin 2
4247 MGAT2 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase
4351 MPI mannose phosphate isomerase
5091 PC pyruvate carboxylase
5277 PIGA phosphatidylinositol glycan anchor biosynthesis class A
5373 PMM2 phosphomannomutase 2
5507 PPP1R3C protein phosphatase 1 regulatory subunit 3C
5728 PTEN phosphatase and tensin homolog
6319 SCD stearoyl-CoA desaturase
6382 SDC1 syndecan 1

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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