MCID: CNG056
MIFTS: 10

Congenital Antithrombin Deficiency malady

Rare diseases, Blood diseases categories

Summaries for Congenital Antithrombin Deficiency

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MalaCards based summary: Congenital Antithrombin Deficiency, also known as antithrombin deficiency, congenital, is related to congenital antithrombin deficiency type 2 and congenital antithrombin deficiency type 3. An important gene associated with Congenital Antithrombin Deficiency is SERPINC1 (serpin peptidase inhibitor, clade C (antithrombin), member 1).

Aliases & Classifications for Congenital Antithrombin Deficiency

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Congenital Antithrombin Deficiency, Aliases & Descriptions:

Name: Congenital Antithrombin Deficiency 41
Antithrombin Deficiency, Congenital 41
 
Hereditary Antithrombin Deficiency 60


Classifications:

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


Related Diseases for Congenital Antithrombin Deficiency

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Diseases related to Congenital Antithrombin Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital antithrombin deficiency type 210.4
2congenital antithrombin deficiency type 310.4
3thrombophilia due to antithrombin iii deficiency10.3

Symptoms for Congenital Antithrombin Deficiency

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Drugs & Therapeutics for Congenital Antithrombin Deficiency

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Drug clinical trials:

Search ClinicalTrials for Congenital Antithrombin Deficiency

Search NIH Clinical Center for Congenital Antithrombin Deficiency

Genetic Tests for Congenital Antithrombin Deficiency

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Anatomical Context for Congenital Antithrombin Deficiency

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Animal Models for Congenital Antithrombin Deficiency or affiliated genes

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Publications for Congenital Antithrombin Deficiency

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Articles related to Congenital Antithrombin Deficiency:

idTitleAuthorsYear
1
Clinical presentation and molecular basis of congenital antithrombin deficiency in children: a cohort study. (24684277)
2014
2
A successful outcome of pregnancy in a patient with congenital antithrombin deficiency. (21452673)
2011
3
The inefficacy of enoxaparin prophylaxis in a patient with congenital antithrombin deficiency. (19357104)
2009
4
Antithrombin-I+ for the prophylaxis of venous thrombosis in congenital antithrombin deficiency. (21083015)
2009
5
Successful therapy with argatroban for superior mesenteric vein thrombosis in a patient with congenital antithrombin deficiency. (16000134)
2005
6
Use of recombinant human antithrombin in patients with congenital antithrombin deficiency undergoing surgical procedures. (12675726)
2003
7
Anesthesia for a child with a congenital antithrombin deficiency. (12620959)
2003
8
Alpha(2)-macroglobulin levels are high in adult patients with congenital antithrombin deficiency. (10713312)
2000
9
Elevated factor Xa activity in the blood of asymptomatic patients with congenital antithrombin deficiency. (3875633)
1985

Variations for Congenital Antithrombin Deficiency

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Expression for genes affiliated with Congenital Antithrombin Deficiency

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Search GEO for disease gene expression data for Congenital Antithrombin Deficiency.

Pathways for genes affiliated with Congenital Antithrombin Deficiency

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Compounds for genes affiliated with Congenital Antithrombin Deficiency

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GO Terms for genes affiliated with Congenital Antithrombin Deficiency

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Products for genes affiliated with Congenital Antithrombin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Congenital Antithrombin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet