MCID: THR067
MIFTS: 28

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Categories: Genetic diseases (common), Blood diseases

Aliases & Classifications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Aliases & Descriptions for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 49 11 67
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 65
Protein C Deficiency Autosomal Dominant 67
 
Proc Deficiency Autosomal Dominant 67
Thph3 67

Characteristics:

HPO:

61
thrombophilia due to protein c deficiency, autosomal dominant:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 176860
UMLS65 C2674321

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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OMIM:49 Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with... (176860) more...

MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, also known as thrombophilia, hereditary, due to protein c deficiency, autosomal dominant, is related to thrombophilia due to thrombin defect and thrombophilia due to protein c deficiency, autosomal recessive, and has symptoms including hypercoagulability, reduced protein c activity and cerebral venous thrombosis. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa), and among its related pathways are Carbon metabolism and Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye and skin.

UniProtKB/Swiss-Prot:67 Thrombophilia due to protein C deficiency, autosomal dominant: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. Individuals with decreased amounts of protein C are classically referred to as having type I protein C deficiency and those with normal amounts of a functionally defective protein as having type II deficiency.

Related Diseases for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia due to thrombin defect10.0
2thrombophilia due to protein c deficiency, autosomal recessive9.5PC, PROC
3thrombophilia due to protein c deficiency, autosomal dominant9.3PC, PROC

Symptoms for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

176860

Clinical features from OMIM:

176860

HPO human phenotypes related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

(show all 9)
id Description Frequency HPO Source Accession
1 hypercoagulability HP:0100724
2 reduced protein c activity HP:0005543
3 cerebral venous thrombosis HP:0005305
4 superficial thrombophlebitis HP:0002638
5 deep venous thrombosis HP:0002625
6 pulmonary embolism HP:0002204
7 warfarin-induced skin necrosis HP:0001038
8 abnormality of the nervous system HP:0000707
9 abnormality of the eye HP:0000478

Drugs & Therapeutics for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Genetic Tests for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Anatomical Context for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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MalaCards organs/tissues related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

33
Eye, Skin

Animal Models for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant or affiliated genes

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MGI Mouse Phenotypes related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

67 (show all 28)
id Symbol AA change Variation ID SNP ID
1PROCp.Arg32CysVAR_006635
2PROCp.Arg57TrpVAR_006642
3PROCp.Glu62AlaVAR_006645
4PROCp.Val76MetVAR_006646
5PROCp.Gly114ArgVAR_006651
6PROCp.Gly145ArgVAR_006656
7PROCp.Pro210LeuVAR_006664
8PROCp.Arg211TrpVAR_006665rs28933986
9PROCp.Arg220TrpVAR_006668
10PROCp.Arg220GlnVAR_006669
11PROCp.Ile243ThrVAR_006671
12PROCp.Arg272CysVAR_006677
13PROCp.Pro321LeuVAR_006687
14PROCp.Gly324ArgVAR_006688
15PROCp.Arg328CysVAR_006689
16PROCp.Thr340MetVAR_006692
17PROCp.Pro369LeuVAR_006696
18PROCp.Gly392ArgVAR_006700
19PROCp.Asp401AsnVAR_006702
20PROCp.Gly423SerVAR_006704
21PROCp.Cys426TyrVAR_006705
22PROCp.Thr436AsnVAR_006707
23PROCp.Tyr441HisVAR_006708
24PROCp.Trp444CysVAR_006709
25PROCp.Arg42SerVAR_055074
26PROCp.Ala163ValVAR_073147
27PROCp.Asp297HisVAR_074303
28PROCp.Val420LeuVAR_074307

Clinvar genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCNM_000312.3(PROC): c.125G> A (p.Arg42His)single nucleotide variantLikely pathogenicrs369504169GRCh37Chr 2, 128178913: 128178913
2PROCNM_000312.3(PROC): c.1201G> A (p.Asp401Asn)single nucleotide variantPathogenicrs142742242GRCh37Chr 2, 128186337: 128186337
3PROCNM_000312.3(PROC): c.169C> T (p.Arg57Trp)single nucleotide variantPathogenicrs757583846GRCh37Chr 2, 128178957: 128178957
4PROCNM_000312.3(PROC): c.1042C> T (p.Arg348Ter)single nucleotide variantPathogenicrs121918141GRCh37Chr 2, 128186178: 128186178
5PROCNM_000312.3(PROC): c.1332G> C (p.Trp444Cys)single nucleotide variantPathogenicrs121918142GRCh37Chr 2, 128186468: 128186468
6PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
7PROCNM_000312.3(PROC): c.1000G> A (p.Gly334Ser)single nucleotide variantPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
8PROCNM_000312.3(PROC): c.658C> T (p.Arg220Trp)single nucleotide variantPathogenicrs121918152GRCh37Chr 2, 128183783: 128183783
9PROCNM_000312.3(PROC): c.659G> A (p.Arg220Gln)single nucleotide variantPathogenicrs121918153GRCh37Chr 2, 128183784: 128183784
10PROCPROC, 1-BP DEL, 8857GdeletionPathogenic
11PROCNM_000312.3(PROC): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918154GRCh37Chr 2, 128185950: 128185950
12PROCPROC, 2-BP INS, 6139TTinsertionPathogenic
13PROCPROC, IVS7DS, C-T, +9single nucleotide variantPathogenic
14PROCNM_000312.3(PROC): c.678G> C (p.Gln226His)single nucleotide variantPathogenicrs121918155GRCh37Chr 2, 128183803: 128183803
15PROCNM_000312.3(PROC): c.1015G> A (p.Val339Met)single nucleotide variantPathogenicrs121918158GRCh37Chr 2, 128186151: 128186151
16PROCPROC, -14T-Csingle nucleotide variantPathogenic
17PROCNM_000312.3(PROC): c.446A> C (p.His149Pro)single nucleotide variantPathogenicrs121918159GRCh37Chr 2, 128180895: 128180895
18PROCNM_000312.3(PROC): c.935C> T (p.Ser312Leu)single nucleotide variantPathogenicrs121918160GRCh37Chr 2, 128186071: 128186071

Expression for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Search GEO for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant.

Pathways for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Pathways related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.1PC, PROC
2
Show member pathways
9.1PC, PROC
3
Show member pathways
9.1PC, PROC
4
Show member pathways
9.1PC, PROC
5
Show member pathways
9.1PC, PROC
6
Show member pathways
9.1PC, PROC
7
Show member pathways
9.1PC, PROC
8
Show member pathways
9.1PC, PROC
9
Show member pathways
9.1PC, PROC
10
Show member pathways
9.1PC, PROC

GO Terms for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet