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THPH3
MCID: THR067
MIFTS: 21

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

Categories: Blood diseases, Genetic diseases
Genes Variations Tissues Symptoms & Phenotypes
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Aliases & Classifications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


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Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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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.

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

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

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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 cerebral venous thrombosis 33 HP:0005305
8 superficial thrombophlebitis 33 HP:0002638
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
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Drugs & Therapeutics for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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

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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:

42
Skin, Eye
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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:

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.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs146793243 GRCh37 Chromosome 2, 128177570: 128177570
2 PROC NM_000312.3(PROC): c.52G> A (p.Gly18Ser) single nucleotide variant Uncertain significance rs146793243 GRCh38 Chromosome 2, 127419994: 127419994
3 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh37 Chromosome 2, 128178913: 128178913
4 PROC NM_000312.3(PROC): c.125G> A (p.Arg42His) single nucleotide variant Likely pathogenic rs369504169 GRCh38 Chromosome 2, 127421337: 127421337
5 PROC NM_000312.3(PROC): c.160A> T (p.Ser54Cys) single nucleotide variant Uncertain significance rs376049280 GRCh37 Chromosome 2, 128178948: 128178948
6 PROC NM_000312.3(PROC): c.160A> T (p.Ser54Cys) single nucleotide variant Uncertain significance rs376049280 GRCh38 Chromosome 2, 127421372: 127421372
7 PROC NM_000312.3(PROC): c.322C> A (p.His108Asn) single nucleotide variant Uncertain significance rs200234655 GRCh37 Chromosome 2, 128180669: 128180669
8 PROC NM_000312.3(PROC): c.322C> A (p.His108Asn) single nucleotide variant Uncertain significance rs200234655 GRCh38 Chromosome 2, 127423093: 127423093
9 PROC NM_000312.3(PROC): c.340G> C (p.Gly114Arg) single nucleotide variant Uncertain significance rs374476971 GRCh37 Chromosome 2, 128180687: 128180687
10 PROC NM_000312.3(PROC): c.340G> C (p.Gly114Arg) single nucleotide variant Uncertain significance rs374476971 GRCh38 Chromosome 2, 127423111: 127423111
11 PROC NM_000312.3(PROC): c.565C> T (p.Arg189Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146922325 GRCh37 Chromosome 2, 128183690: 128183690
12 PROC NM_000312.3(PROC): c.565C> T (p.Arg189Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs146922325 GRCh38 Chromosome 2, 127426114: 127426114
13 PROC NM_000312.3(PROC): c.580C> T (p.Arg194Cys) single nucleotide variant Uncertain significance rs371071104 GRCh37 Chromosome 2, 128183705: 128183705
14 PROC NM_000312.3(PROC): c.580C> T (p.Arg194Cys) single nucleotide variant Uncertain significance rs371071104 GRCh38 Chromosome 2, 127426129: 127426129
15 PROC NM_000312.3(PROC): c.1010C> T (p.Thr337Ile) single nucleotide variant Uncertain significance rs369881972 GRCh37 Chromosome 2, 128186146: 128186146
16 PROC NM_000312.3(PROC): c.1010C> T (p.Thr337Ile) single nucleotide variant Uncertain significance rs369881972 GRCh38 Chromosome 2, 127428570: 127428570
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.1201G> A (p.Asp401Asn) single nucleotide variant Pathogenic rs142742242 GRCh38 Chromosome 2, 127428761: 127428761
19 PROC NM_000312.3(PROC): c.1234G> A (p.Gly412Ser) single nucleotide variant Uncertain significance rs139741458 GRCh37 Chromosome 2, 128186370: 128186370
20 PROC NM_000312.3(PROC): c.1234G> A (p.Gly412Ser) single nucleotide variant Uncertain significance rs139741458 GRCh38 Chromosome 2, 127428794: 127428794
21 PROC NM_000312.3(PROC): c.169C> T (p.Arg57Trp) single nucleotide variant Pathogenic/Likely pathogenic rs757583846 GRCh37 Chromosome 2, 128178957: 128178957
22 PROC NM_000312.3(PROC): c.169C> T (p.Arg57Trp) single nucleotide variant Pathogenic/Likely pathogenic rs757583846 GRCh38 Chromosome 2, 127421381: 127421381
23 PROC NM_000312.3(PROC): c.1299C> T (p.Gly433=) single nucleotide variant Conflicting interpretations of pathogenicity rs151319700 GRCh37 Chromosome 2, 128186435: 128186435
24 PROC NM_000312.3(PROC): c.1299C> T (p.Gly433=) single nucleotide variant Conflicting interpretations of pathogenicity rs151319700 GRCh38 Chromosome 2, 127428859: 127428859
25 PROC NM_000312.3(PROC): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs121918141 GRCh37 Chromosome 2, 128186178: 128186178
26 PROC NM_000312.3(PROC): c.1042C> T (p.Arg348Ter) single nucleotide variant Pathogenic rs121918141 GRCh38 Chromosome 2, 127428602: 127428602
27 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh37 Chromosome 2, 128186468: 128186468
28 PROC NM_000312.3(PROC): c.1332G> C (p.Trp444Cys) single nucleotide variant Pathogenic rs121918142 GRCh38 Chromosome 2, 127428892: 127428892
29 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh37 Chromosome 2, 128183756: 128183756
30 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh38 Chromosome 2, 127426180: 127426180
31 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh37 Chromosome 2, 128186061: 128186061
32 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh38 Chromosome 2, 127428485: 127428485
33 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
34 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh38 Chromosome 2, 127428560: 127428560
35 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh37 Chromosome 2, 128183783: 128183783
36 PROC NM_000312.3(PROC): c.658C> T (p.Arg220Trp) single nucleotide variant Pathogenic rs121918152 GRCh38 Chromosome 2, 127426207: 127426207
37 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Likely pathogenic rs121918153 GRCh37 Chromosome 2, 128183784: 128183784
38 PROC NM_000312.3(PROC): c.659G> A (p.Arg220Gln) single nucleotide variant Likely pathogenic rs121918153 GRCh38 Chromosome 2, 127426208: 127426208
39 PROC PROC, 1-BP DEL, 8857G deletion Pathogenic
40 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh37 Chromosome 2, 128185950: 128185950
41 PROC NM_000312.3(PROC): c.814C> T (p.Arg272Cys) single nucleotide variant Pathogenic rs121918154 GRCh38 Chromosome 2, 127428374: 127428374
42 PROC NM_000312.3(PROC): c.552_553insTT (p.Arg185Leufs) insertion Pathogenic GRCh37 Chromosome 2, 128183677: 128183678
43 PROC NM_000312.3(PROC): c.552_553insTT (p.Arg185Leufs) insertion Pathogenic GRCh38 Chromosome 2, 127426101: 127426102
44 PROC NM_000312.3(PROC): c.678+9C> T single nucleotide variant Pathogenic GRCh37 Chromosome 2, 128183812: 128183812
45 PROC NM_000312.3(PROC): c.678+9C> T single nucleotide variant Pathogenic GRCh38 Chromosome 2, 127426236: 127426236
46 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh37 Chromosome 2, 128183803: 128183803
47 PROC NM_000312.3(PROC): c.678G> C (p.Gln226His) single nucleotide variant Pathogenic rs121918155 GRCh38 Chromosome 2, 127426227: 127426227
48 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh37 Chromosome 2, 128186151: 128186151
49 PROC NM_000312.3(PROC): c.1015G> A (p.Val339Met) single nucleotide variant Pathogenic rs121918158 GRCh38 Chromosome 2, 127428575: 127428575
50 PROC PROC, -14T-C single nucleotide variant Pathogenic
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Expression for 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.
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Pathways for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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GO Terms for 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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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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