MCID: THR067
MIFTS: 23

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Categories: Genetic diseases, Blood diseases

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

MalaCards integrated aliases for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 53 71 13
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 69 28
Thph3 53 71
Protein C Deficiency, Autosomal Dominant 53
Protein C Deficiency Autosomal Dominant 71
Proc Deficiency, Autosomal Dominant 53
Proc Deficiency Autosomal Dominant 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
vast majority of heterozygotes are asymptomatic
protein c deficiency is found in 3-4% of patients with venous thromboembolism
acquired protein c deficiency seen in liver disease, dic, and following surgery
see also autosomal recessive form


HPO:

31
thrombophilia due to protein c deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

OMIM : 53 Heterozygous protein C deficiency is characterized by recurrent venous thrombosis. However, many adults with heterozygous disease may be asymptomatic (Millar et al., 2000). Individuals with decreased amounts of protein C are classically referred to as having type I deficiency and those with normal amounts of a functionally defective protein as having type II deficiency (Bertina et al., 1984). Acquired protein C deficiency is a clinically similar disorder caused by development of an antibody against protein C. Clouse and Comp (1986) reviewed the structural and functional properties of protein C and discussed both hereditary and acquired deficiency of protein C. (176860)

MalaCards based summary : Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, is also known as thrombophilia, hereditary, due to protein c deficiency, autosomal dominant, and has symptoms including abnormality of the eye, hypercoagulability and pulmonary embolism. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa). Affiliated tissues include skin, liver and eye.

UniProtKB/Swiss-Prot : 71 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

Symptoms & Phenotypes for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

53
CardiovascularVascular:
superficial thrombophlebitis
deep venous thrombosis

SkinNailsHairSkin:
warfarin-induced skin necrosis

LaboratoryAbnormalities:
plasma protein c deficiency

RespiratoryLung:
pulmonary embolism

NeurologicCentralNervousSystem:
cerebral thrombosis (e.g. protein c deficiency)


Clinical features from OMIM:

176860

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 31 HP:0000478
2 hypercoagulability 31 HP:0100724
3 pulmonary embolism 31 HP:0002204
4 abnormality of the nervous system 31 HP:0000707
5 deep venous thrombosis 31 HP:0002625
6 warfarin-induced skin necrosis 31 HP:0001038
7 cerebral venous thrombosis 31 HP:0005305
8 superficial thrombophlebitis 31 HP:0002638
9 reduced protein c activity 31 HP:0005543

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

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

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

Genetic tests related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 28 PROC

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

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

38
Skin, Liver, Eye

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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

71 (show all 28)
# Symbol AA change Variation ID SNP ID
1 PROC p.Arg32Cys VAR_006635
2 PROC p.Arg57Trp VAR_006642 rs757583846
3 PROC p.Glu62Ala VAR_006645 rs121918148
4 PROC p.Val76Met VAR_006646 rs121918149
5 PROC p.Gly114Arg VAR_006651 rs374476971
6 PROC p.Gly145Arg VAR_006656
7 PROC p.Pro210Leu VAR_006664 rs121918145
8 PROC p.Arg211Trp VAR_006665 rs121918143
9 PROC p.Arg220Trp VAR_006668 rs121918152
10 PROC p.Arg220Gln VAR_006669 rs121918153
11 PROC p.Ile243Thr VAR_006671 rs774584131
12 PROC p.Arg272Cys VAR_006677 rs121918154
13 PROC p.Pro321Leu VAR_006687
14 PROC p.Gly324Arg VAR_006688
15 PROC p.Arg328Cys VAR_006689 rs201907715
16 PROC p.Thr340Met VAR_006692 rs766261022
17 PROC p.Pro369Leu VAR_006696
18 PROC p.Gly392Arg VAR_006700 rs756467027
19 PROC p.Asp401Asn VAR_006702 rs142742242
20 PROC p.Gly423Ser VAR_006704
21 PROC p.Cys426Tyr VAR_006705
22 PROC p.Thr436Asn VAR_006707
23 PROC p.Tyr441His VAR_006708 rs753436021
24 PROC p.Trp444Cys VAR_006709 rs121918142
25 PROC p.Arg42Ser VAR_055074
26 PROC p.Ala163Val VAR_073147
27 PROC p.Asp297His VAR_074303 rs199469471
28 PROC p.Val420Leu VAR_074307 rs199469472

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

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh37 Chromosome 2, 128178913: 128178913
2 PROC NM_000312.3(PROC): c.1201G> A (p.Asp401Asn) single nucleotide variant Pathogenic rs142742242 GRCh37 Chromosome 2, 128186337: 128186337
3 PROC NM_000312.3(PROC): c.169C> T (p.Arg57Trp) single nucleotide variant Pathogenic/Likely pathogenic rs757583846 GRCh37 Chromosome 2, 128178957: 128178957
4 PROC NM_000312.3(PROC): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs121918141 GRCh37 Chromosome 2, 128186178: 128186178
5 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh37 Chromosome 2, 128186468: 128186468
6 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh37 Chromosome 2, 128183756: 128183756
7 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
8 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh37 Chromosome 2, 128183783: 128183783
9 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121918153 GRCh37 Chromosome 2, 128183784: 128183784
10 PROC PROC, 1-BP DEL, 8857G deletion Pathogenic
11 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh37 Chromosome 2, 128185950: 128185950
12 PROC PROC, 2-BP INS, 6139TT insertion Pathogenic
13 PROC PROC, IVS7DS, C-T, +9 single nucleotide variant Pathogenic
14 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh37 Chromosome 2, 128183803: 128183803
15 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh37 Chromosome 2, 128186151: 128186151
16 PROC PROC, -14T-C single nucleotide variant Pathogenic
17 PROC NM_000312.3(PROC): c.446A> C (p.His149Pro) single nucleotide variant Pathogenic rs121918159 GRCh37 Chromosome 2, 128180895: 128180895
18 PROC NM_000312.3(PROC): c.935C> T (p.Ser312Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121918160 GRCh37 Chromosome 2, 128186071: 128186071
19 PROC NM_000312.3(PROC): c.1212dupG (p.Pro405Alafs) duplication Likely pathogenic GRCh38 Chromosome 2, 127428772: 127428772
20 PROC NM_000312.3(PROC): c.352T> C (p.Phe118Leu) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 127423123: 127423123

Expression for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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

Pathways for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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