THPH3
MCID: THR067
MIFTS: 19

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant (THPH3) malady

Categories: Genetic diseases, Blood diseases

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 54 66 13
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 69
Protein C Deficiency Autosomal Dominant 66
Proc Deficiency Autosomal Dominant 66
Thph3 66

Characteristics:

HPO:

32
thrombophilia due to protein c deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 176860

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

OMIM : 54 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 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 and eye.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 thrombophilia due to thrombin defect 10.9

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

Symptoms by clinical synopsis from OMIM:

176860

Clinical features from OMIM:

176860

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

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 abnormality of the eye 32 HP:0000478
2 hypercoagulability 32 HP:0100724
3 pulmonary embolism 32 HP:0002204
4 abnormality of the nervous system 32 HP:0000707
5 deep venous thrombosis 32 HP:0002625
6 warfarin-induced skin necrosis 32 HP:0001038
7 cerebral venous thrombosis 32 HP:0005305
8 superficial thrombophlebitis 32 HP:0002638
9 reduced protein c activity 32 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

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

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

39
Skin, 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:

66 (show all 28)
id 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 rs28933986
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)
id Gene Variation Type Significance SNP ID Assembly Location
1 PROC NM_000312.3(PROC): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs121918141 GRCh37 Chromosome 2, 128186178: 128186178
2 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh37 Chromosome 2, 128186468: 128186468
3 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh37 Chromosome 2, 128183756: 128183756
4 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
5 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh37 Chromosome 2, 128183783: 128183783
6 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Pathogenic/Likely pathogenic rs121918153 GRCh37 Chromosome 2, 128183784: 128183784
7 PROC PROC, 1-BP DEL, 8857G deletion Pathogenic
8 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh37 Chromosome 2, 128185950: 128185950
9 PROC PROC, 2-BP INS, 6139TT insertion Pathogenic
10 PROC PROC, IVS7DS, C-T, +9 single nucleotide variant Pathogenic
11 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh37 Chromosome 2, 128183803: 128183803
12 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh37 Chromosome 2, 128186151: 128186151
13 PROC PROC, -14T-C single nucleotide variant Pathogenic
14 PROC NM_000312.3(PROC): c.446A> C (p.His149Pro) single nucleotide variant Pathogenic rs121918159 GRCh37 Chromosome 2, 128180895: 128180895
15 PROC NM_000312.3(PROC): c.935C> T (p.Ser312Leu) single nucleotide variant Pathogenic rs121918160 GRCh37 Chromosome 2, 128186071: 128186071
16 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh37 Chromosome 2, 128178913: 128178913
17 PROC NM_000312.3(PROC): c.1201G> A (p.Asp401Asn) single nucleotide variant Pathogenic rs142742242 GRCh37 Chromosome 2, 128186337: 128186337
18 PROC NM_000312.3(PROC): c.169C> T (p.Arg57Trp) single nucleotide variant Pathogenic rs757583846 GRCh37 Chromosome 2, 128178957: 128178957
19 PROC NM_000312.3(PROC): c.577_579delAAG (p.Lys193del) deletion Likely pathogenic rs886054846 GRCh37 Chromosome 2, 128183702: 128183704
20 PROC NM_000312.3(PROC): c.1212dupG (p.Pro405Alafs) duplication Likely pathogenic GRCh38 Chromosome 2, 127428772: 127428772

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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