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THPH3
MCID: THR067
MIFTS: 22

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 57 75 13
Thph3 57 75
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Dominant 73
Protein C Deficiency, Autosomal Dominant 57
Protein C Deficiency Autosomal Dominant 75
Proc Deficiency, Autosomal Dominant 57
Proc Deficiency Autosomal Dominant 75

Characteristics:

OMIM:

57
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:

32
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 : 57 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, liver and eye, and related phenotypes are abnormality of the eye and hypercoagulability

UniProtKB/Swiss-Prot : 75 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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Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 9)
# 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
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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:

41
Skin, Liver, 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:

75 (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 top 50) (show all 150)
# 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 rs1053253907 GRCh37 Chromosome 2, 128183812: 128183812
21 PROC NM_000312.3(PROC): c.678+9C> T single nucleotide variant Pathogenic rs1053253907 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
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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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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