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 21 - 29 of 29 in total
Gene ID Gene Symbol Description Source
6403 SELP selectin P
6609 SMPD1 sphingomyelin phosphodiesterase 1
8813 DPM1 dolichyl-phosphate mannosyltransferase subunit 1, catalytic
8818 DPM2 dolichyl-phosphate mannosyltransferase subunit 2, regulatory
10855 HPSE heparanase
29929 ALG6 ALG6 alpha-1,3-glucosyltransferase
55768 NGLY1 N-glycanase 1
79644 SRD5A3 steroid 5 alpha-reductase 3
79660 PPP1R3B protein phosphatase 1 regulatory subunit 3B

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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