MCID: HRD083
MIFTS: 16

Hereditary Antithrombin Deficiency malady

Blood diseases category

Summaries for Hereditary Antithrombin Deficiency

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21Genetics Home Reference, 32MalaCards
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Genetics Home Reference:21 Hereditary antithrombin deficiency is a disorder of blood clotting. People with this condition are at higher than average risk for developing abnormal blood clots, particularly a type of clot that occurs in the deep veins of the legs. This type of clot is called a deep vein thrombosis (DVT). Affected individuals also have an increased risk of developing a pulmonary embolism (PE), which is a clot that travels through the bloodstream and lodges in the lungs. In hereditary antithrombin deficiency, abnormal blood clots usually form only in veins, although they may rarely occur in arteries.

MalaCards: Hereditary Antithrombin Deficiency, also known as antithrombin iii deficiency, is related to antithrombin iii deficiency and nephrotic syndrome. An important gene associated with Hereditary Antithrombin Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1). The drugs antithrombin iii, human and antithrombin iii,recombinant have been mentioned in the context of this disorder. Affiliated tissues include lung.

Aliases & Classifications for Hereditary Antithrombin Deficiency

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21Genetics Home Reference, 60UMLS
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

hereditary antithrombin deficiency 21
antithrombin iii deficiency 21 60
congenital antithrombin iii deficiency 21


Related Diseases for Hereditary Antithrombin Deficiency

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Hereditary Antithrombin Deficiency:



Diseases related to hereditary antithrombin deficiency

Clinical Features for Hereditary Antithrombin Deficiency

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Drugs & Therapeutics for Hereditary Antithrombin Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Inferred drug relations via UMLS60/NDF-RT40:

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Genetic Tests for Hereditary Antithrombin Deficiency

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Anatomical Context for Hereditary Antithrombin Deficiency

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Sources:
32MalaCards
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MalaCards organs/tissues related to Hereditary Antithrombin Deficiency:

32
Lung

Animal Models for Hereditary Antithrombin Deficiency or affiliated genes

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Publications for Hereditary Antithrombin Deficiency

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Genetic Variations for Hereditary Antithrombin Deficiency

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Expression for genes affiliated with Hereditary Antithrombin Deficiency

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Antithrombin Deficiency

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Pathways for genes affiliated with Hereditary Antithrombin Deficiency

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Compounds for genes affiliated with Hereditary Antithrombin Deficiency

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GO Terms for genes affiliated with Hereditary Antithrombin Deficiency

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Products for genes affiliated with Hereditary Antithrombin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Antithrombin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet