MCID: CNG056
MIFTS: 12

Congenital Antithrombin Deficiency malady

Rare diseases, Blood diseases categories
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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 3 and congenital antithrombin deficiency type 2. 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 42 62
 
Antithrombin Deficiency, Congenital 42


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/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1congenital antithrombin deficiency type 310.4
2congenital antithrombin deficiency type 210.3
3venous thrombosis10.1

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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Expression patterns in normal tissues for genes affiliated with Congenital Antithrombin Deficiency

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

Sources for Congenital 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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet