THPH3
MCID: THR067
MIFTS: 25

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

Categories: Blood diseases, Genetic 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 58 76 13
Thph3 58 76
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 74
Protein C Deficiency, Autosomal Dominant 58
Protein C Deficiency Autosomal Dominant 76
Proc Deficiency, Autosomal Dominant 58
Proc Deficiency Autosomal Dominant 76

Characteristics:

OMIM:

58
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:

33
thrombophilia due to protein c deficiency, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

OMIM : 58 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 thph3. 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, and related phenotypes are abnormality of the eye and hypercoagulability

UniProtKB/Swiss-Prot : 76 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

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

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 abnormality of the eye 33 HP:0000478
2 hypercoagulability 33 HP:0100724
3 pulmonary embolism 33 HP:0002204
4 abnormality of the nervous system 33 HP:0000707
5 deep venous thrombosis 33 HP:0002625
6 warfarin-induced skin necrosis 33 HP:0001038
7 superficial thrombophlebitis 33 HP:0002638
8 cerebral venous thrombosis 33 HP:0005305
9 reduced protein c activity 33 HP:0005543

Symptoms via clinical synopsis from OMIM:

58
Respiratory Lung:
pulmonary embolism

Skin Nails Hair Skin:
warfarin-induced skin necrosis

Laboratory Abnormalities:
plasma protein c deficiency

Cardiovascular Vascular:
deep venous thrombosis
superficial thrombophlebitis

Neurologic Central Nervous System:
cerebral thrombosis (e.g. protein c deficiency)

Clinical features from OMIM:

176860

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:

42
Skin, Eye

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Articles related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

(show all 19)
# Title Authors Year
1
Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain. ( 11380450 )
2001
2
Molecular genetic analysis of severe protein C deficiency. ( 10942114 )
2000
3
Type I protein C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein C gene promoter. ( 9553065 )
1998
4
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. ( 9683579 )
1998
5
Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. ( 8807339 )
1996
6
Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. ( 8639775 )
1996
7
Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. ( 7881411 )
1994
8
Increased risk of venous thrombosis in carriers of hereditary protein C deficiency defect. ( 8093743 )
1993
9
A novel point mutation (Val 297-->Met) in the serine proteinase domain of protein C in a patient with both venous and arterial thromboembolic disease. ( 8218861 )
1993
10
Splice site mutation in the human protein C gene associated with venous thrombosis: demonstration of exon skipping by ectopic transcript analysis. ( 8400292 )
1993
11
Protein C deficiency: identification of a novel two-base pair insertion and two point mutations in exon 7 of the protein C gene in Spanish families. ( 1301954 )
1992
12
Impaired secretion of the elongated mutant of protein C (protein C-Nagoya). Molecular and cellular basis for hereditary protein C deficiency. ( 1469096 )
1992
13
A novel homozygous missense mutation in the protein C (PROC) gene causing recurrent venous thrombosis. ( 1511988 )
1992
14
Two different missense mutations at Arg 178 of the protein C (PROC) gene causing recurrent venous thrombosis. ( 1511989 )
1992
15
The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects. ( 1868249 )
1991
16
Protein C London 1: recurrent mutation at Arg 169 (CGG----TGG) in the protein C gene causing thrombosis. ( 2602169 )
1989
17
A thrombotic state due to an abnormal protein C. ( 3185623 )
1988
18
Hereditary thrombophilia: identification of nonsense and missense mutations in the protein C gene. ( 2437584 )
1987
19
Characterization of a cDNA coding for human protein C. ( 6589623 )
1984

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:

76 (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 rs370813536
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 rs132156626
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 rs121109869
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 rs774572099
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 top 50) (show all 154)
# 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.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs121918141 GRCh38 Chromosome 2, 127428602: 127428602
3 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh37 Chromosome 2, 128186468: 128186468
4 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh38 Chromosome 2, 127428892: 127428892
5 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh37 Chromosome 2, 128183756: 128183756
6 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh38 Chromosome 2, 127426180: 127426180
7 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh37 Chromosome 2, 128186061: 128186061
8 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh38 Chromosome 2, 127428485: 127428485
9 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
10 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh38 Chromosome 2, 127428560: 127428560
11 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh37 Chromosome 2, 128183783: 128183783
12 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh38 Chromosome 2, 127426207: 127426207
13 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Likely pathogenic rs121918153 GRCh37 Chromosome 2, 128183784: 128183784
14 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Likely pathogenic rs121918153 GRCh38 Chromosome 2, 127426208: 127426208
15 PROC PROC, 1-BP DEL, 8857G deletion Pathogenic
16 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh37 Chromosome 2, 128185950: 128185950
17 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh38 Chromosome 2, 127428374: 127428374
18 PROC NM_000312.3(PROC): c.552_553insTT (p.Arg185Leufs) insertion Pathogenic GRCh37 Chromosome 2, 128183677: 128183678
19 PROC NM_000312.3(PROC): c.552_553insTT (p.Arg185Leufs) insertion Pathogenic GRCh38 Chromosome 2, 127426101: 127426102
20 PROC NM_000312.3(PROC): c.678+9C> T single nucleotide variant Pathogenic GRCh37 Chromosome 2, 128183812: 128183812
21 PROC NM_000312.3(PROC): c.678+9C> T single nucleotide variant Pathogenic GRCh38 Chromosome 2, 127426236: 127426236
22 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh37 Chromosome 2, 128183803: 128183803
23 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh38 Chromosome 2, 127426227: 127426227
24 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh37 Chromosome 2, 128186151: 128186151
25 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh38 Chromosome 2, 127428575: 127428575
26 PROC PROC, -14T-C single nucleotide variant Pathogenic
27 PROC NM_000312.3(PROC): c.446A> C (p.His149Pro) single nucleotide variant Pathogenic rs121918159 GRCh37 Chromosome 2, 128180895: 128180895
28 PROC NM_000312.3(PROC): c.446A> C (p.His149Pro) single nucleotide variant Pathogenic rs121918159 GRCh38 Chromosome 2, 127423319: 127423319
29 PROC NM_000312.3(PROC): c.935C> T (p.Ser312Leu) single nucleotide variant Likely pathogenic rs121918160 GRCh37 Chromosome 2, 128186071: 128186071
30 PROC NM_000312.3(PROC): c.935C> T (p.Ser312Leu) single nucleotide variant Likely pathogenic rs121918160 GRCh38 Chromosome 2, 127428495: 127428495
31 PROC NM_000312.3(PROC): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs146793243 GRCh37 Chromosome 2, 128177570: 128177570
32 PROC NM_000312.3(PROC): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs146793243 GRCh38 Chromosome 2, 127419994: 127419994
33 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh37 Chromosome 2, 128178913: 128178913
34 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh38 Chromosome 2, 127421337: 127421337
35 PROC NM_000312.3(PROC): c.160A> T (p.Ser54Cys) single nucleotide variant Uncertain significance rs376049280 GRCh37 Chromosome 2, 128178948: 128178948
36 PROC NM_000312.3(PROC): c.160A> T (p.Ser54Cys) single nucleotide variant Uncertain significance rs376049280 GRCh38 Chromosome 2, 127421372: 127421372
37 PROC NM_000312.3(PROC): c.322C> A (p.His108Asn) single nucleotide variant Uncertain significance rs200234655 GRCh37 Chromosome 2, 128180669: 128180669
38 PROC NM_000312.3(PROC): c.322C> A (p.His108Asn) single nucleotide variant Uncertain significance rs200234655 GRCh38 Chromosome 2, 127423093: 127423093
39 PROC NM_000312.3(PROC): c.340G> C (p.Gly114Arg) single nucleotide variant Uncertain significance rs374476971 GRCh37 Chromosome 2, 128180687: 128180687
40 PROC NM_000312.3(PROC): c.340G> C (p.Gly114Arg) single nucleotide variant Uncertain significance rs374476971 GRCh38 Chromosome 2, 127423111: 127423111
41 PROC NM_000312.3(PROC): c.565C> T (p.Arg189Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146922325 GRCh37 Chromosome 2, 128183690: 128183690
42 PROC NM_000312.3(PROC): c.565C> T (p.Arg189Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146922325 GRCh38 Chromosome 2, 127426114: 127426114
43 PROC NM_000312.3(PROC): c.580C> T (p.Arg194Cys) single nucleotide variant Uncertain significance rs371071104 GRCh37 Chromosome 2, 128183705: 128183705
44 PROC NM_000312.3(PROC): c.580C> T (p.Arg194Cys) single nucleotide variant Uncertain significance rs371071104 GRCh38 Chromosome 2, 127426129: 127426129
45 PROC NM_000312.3(PROC): c.1010C> T (p.Thr337Ile) single nucleotide variant Uncertain significance rs369881972 GRCh37 Chromosome 2, 128186146: 128186146
46 PROC NM_000312.3(PROC): c.1010C> T (p.Thr337Ile) single nucleotide variant Uncertain significance rs369881972 GRCh38 Chromosome 2, 127428570: 127428570
47 PROC NM_000312.3(PROC): c.1201G> A (p.Asp401Asn) single nucleotide variant Pathogenic rs142742242 GRCh37 Chromosome 2, 128186337: 128186337
48 PROC NM_000312.3(PROC): c.1201G> A (p.Asp401Asn) single nucleotide variant Pathogenic rs142742242 GRCh38 Chromosome 2, 127428761: 127428761
49 PROC NM_000312.3(PROC): c.1234G> A (p.Gly412Ser) single nucleotide variant Uncertain significance rs139741458 GRCh37 Chromosome 2, 128186370: 128186370
50 PROC NM_000312.3(PROC): c.1234G> A (p.Gly412Ser) single nucleotide variant Uncertain significance rs139741458 GRCh38 Chromosome 2, 127428794: 127428794

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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