Antithrombin Iii Deficiency (AT3D)

Alias:
Hereditary Antithrombin Deficiency
Hereditary Thrombophilia Due to Congenital Antithrombin Deficiency
Hereditary Thrombophilia Due to Congenital Antithrombin 3 Deficiency
Congenital Antithrombin Iii Deficiency
Thph7
At3d
Thrombophilia 7 Due to Antithrombin Iii Deficiency
Thrombophilia Due to Antithrombin Iii Deficiency
Thrombophilia Due to Antithrombin-Iii Deficiency
Antithrombin-Iii Deficiency
Antithrombin 3 Deficiency
Antithrombin Deficiency
at Iii Deficiency
at-Iii Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Antithrombin Iii Deficiency, also known as hereditary antithrombin deficiency, is related to budd-chiari syndrome and nephrotic syndrome. An important gene associated with Antithrombin Iii Deficiency is SERPINC1 (Serpin Family C Member 1), and among its related pathways/superpathways are Metabolism of proteins and Response to elevated platelet cytosolic Ca2+. The drugs Heparin, bovine and Calcium heparin have been mentioned in the context of this disorder. Affiliated tissues include bone and liver, and related phenotypes are reduced antithrombin iii activity and reduced antithrombin antigen
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adolescent
1-5/10000
12
76
146

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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