MCID: THR082
MIFTS: 12

Thrombophilia Due to Activated Protein C Resistance malady

Genetic diseases (common), Blood diseases categories

Summaries for Thrombophilia Due to Activated Protein C Resistance

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48OMIM, 34MalaCards
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MalaCards: Thrombophilia Due to Activated Protein C Resistance is related to thrombophilia and factor v leiden thrombophilia. An important gene associated with Thrombophilia Due to Activated Protein C Resistance is F5 (coagulation factor V (proaccelerin, labile factor)).

Description from OMIM:48 188055

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

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48OMIM
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Classifications:

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


Aliases & Descriptions:

thrombophilia due to activated protein c resistance 48


Related Diseases for Thrombophilia Due to Activated Protein C Resistance

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18GeneCards, 19GeneDecks
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Diseases in the Thrombophilia family:

Thrombophilia Due to Factor V Leiden thrombophilia due to activated protein c resistance
Thrombophilia Due to Elevated Hrg Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Decreased Release of Tissue Plasminogen Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect

Diseases related to Thrombophilia Due to Activated Protein C Resistance via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia10.4
2factor v leiden thrombophilia10.4
3thrombophilia due to factor v leiden10.4

Symptoms for Thrombophilia Due to Activated Protein C Resistance

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48OMIM
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Clinical features from OMIM:

188055

Drugs & Therapeutics for Thrombophilia Due to Activated Protein C Resistance

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Thrombophilia Due to Activated Protein C Resistance

Search CenterWatch for Thrombophilia Due to Activated Protein C Resistance

Genetic Tests for Thrombophilia Due to Activated Protein C Resistance

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Anatomical Context for Thrombophilia Due to Activated Protein C Resistance

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Animal Models for Thrombophilia Due to Activated Protein C Resistance or affiliated genes

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Publications for Thrombophilia Due to Activated Protein C Resistance

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53PubMed
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Articles related to Thrombophilia Due to Activated Protein C Resistance:

idTitleAuthorsYear
1
Initial experience in the diagnosis of thrombophilia due to activated protein C resistance]. (9173574)
1997

Variations for Thrombophilia Due to Activated Protein C Resistance

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

65
id Symbol AA change Variation ID SNP ID
1F5p.Arg334ThrVAR_013621rs118203906
2F5p.Arg2102HisVAR_017329
3F5p.Ile387ThrVAR_032698
4F5p.Cys613ArgVAR_032699

Clinvar genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

1
id Gene Name Type Significance SNP ID Assembly Location
1F5NM_000130.4(F5): c.1001G> C (p.Arg334Thr)single nucleotide variantPathogenicrs118203906GRCh37Chr 1, 169524537: 169524537
2F5NM_000130.4(F5): c.439G> T (p.Glu147Ter)single nucleotide variantPathogenicrs118203912GRCh37Chr 1, 169529939: 169529939
3F5NM_000130.4(F5): c.1160T> C (p.Ile387Thr)single nucleotide variantPathogenicrs118203911GRCh37Chr 1, 169521931: 169521931

Expression for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

Search GEO for disease gene expression data for Thrombophilia Due to Activated Protein C Resistance.

Pathways for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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Compounds for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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GO Terms for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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Products for genes affiliated with Thrombophilia Due to Activated Protein C Resistance

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia Due to Activated Protein C Resistance

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet