MCID: THR082
MIFTS: 27

Thrombophilia Due to Activated Protein C Resistance malady

Genetic diseases (common), Blood diseases categories

Aliases & Classifications for Thrombophilia Due to Activated Protein C Resistance

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 22GTR, 60UMLS
See all sources

Thrombophilia Due to Activated Protein C Resistance, Aliases & Descriptions:

Name: Thrombophilia Due to Activated Protein C Resistance 45 10 22 60
Thrombophilia Due to Factor V Leiden 45 22
 
Activated Protein C Resistance 60
Apc Resistance 43


Classifications:

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


External Ids:

OMIM45 188055

Summaries for Thrombophilia Due to Activated Protein C Resistance

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OMIM:45 Thrombophilia due to activated protein C resistance is due to a mutation in the F5 gene that renders factor V resistant... (188055) more...

MalaCards based summary: Thrombophilia Due to Activated Protein C Resistance, also known as thrombophilia due to factor v leiden, is related to thrombophilia and factor v leiden thrombophilia, and has symptoms including autosomal dominant inheritance, deep venous thrombosis and adult onset. An important gene associated with Thrombophilia Due to Activated Protein C Resistance is F5 (coagulation factor V (proaccelerin, labile factor)).

Related Diseases for Thrombophilia Due to Activated Protein C Resistance

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Diseases in the Thrombophilia family:

thrombophilia due to activated protein c resistance Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect Thrombophilia, Familial, Due to Decreased Release of Plat

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia10.4
2factor v leiden thrombophilia10.4
3protein s deficiency10.4
4factor v deficiency10.3
5critical limb ischemia10.1
6retinal vein occlusion10.1
7limb ischemia10.1
8cerebritis10.1
9cerebral lymphoma10.1
10ischemia10.1
11retinitis10.1
12vaginitis10.1

Graphical network of diseases related to Thrombophilia Due to Activated Protein C Resistance:



Diseases related to thrombophilia due to activated protein c resistance

Symptoms for Thrombophilia Due to Activated Protein C Resistance

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Symptoms by clinical synopsis from OMIM:

188055

Clinical features from OMIM:

188055

HPO human phenotypes related to Thrombophilia Due to Activated Protein C Resistance:

(show all 6)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 deep venous thrombosis HP:0002625
3 adult onset HP:0003581
4 prolonged partial thromboplastin time HP:0003645
5 resistance to activated protein c HP:0012175
6 preeclampsia HP:0100602

Drugs & Therapeutics for Thrombophilia Due to Activated Protein C Resistance

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Drug clinical trials:

Search ClinicalTrials for Thrombophilia Due to Activated Protein C Resistance

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

Genetic Tests for Thrombophilia Due to Activated Protein C Resistance

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Genetic tests related to Thrombophilia Due to Activated Protein C Resistance:

id Genetic test Affiliating Genes
1 Thrombophilia Due to Activated Protein C Resistance22
2 Thrombophilia Due to Factor V Leiden22

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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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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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Activated Protein C Resistance:

62
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:

6
id Gene Variation 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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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
  • Proteins
  • Kits and Assays

Sources for Thrombophilia Due to Activated Protein C Resistance

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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