Thrombophilia Due to Protein C Deficiency, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: THR067 MIFTS: 22	Thrombophilia Due to Protein C Deficiency, Autosomal Dominant Categories: Genetic diseases, Blood diseases
Genes Variations Tissues Symptoms & Phenotypes Download Expand all tables

Sources

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 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)

External Ids:

OMIM ⁵⁷ 176860

MedGen ⁴² C2674321 C2674322

MeSH ⁴⁴ D019851 D020151

SNOMED-CT via HPO ⁶⁹ 263681008 19416009 371405004 more

UMLS ⁷³ C2674321

Sources

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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.

Sources

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

Sources

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

Symptoms via clinical synopsis from OMIM:

⁵⁷

Cardiovascular Vascular:
superficial thrombophlebitis
deep venous thrombosis

Skin Nails Hair Skin:
warfarin-induced skin necrosis

Laboratory Abnormalities:
plasma protein c deficiency

Respiratory Lung:
pulmonary embolism

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 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

Sources

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

Sources

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

Sources

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

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

⁴¹

Skin, Liver, Eye

Sources

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Sources

Genes for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Genes/enhancers related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PROC	Protein C, Inactivator Of Coagulation Factors Va And VIIIa	Protein Coding	1255.49	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	2437584 1511989 2602169 (more) 1469096 8639775 1868249 8093743 1301954 6589623 8400292 8218861 7881411 9553065 9683579 1511988 3185623 10942114 8807339 11380450
1	PROC::GH02J127418	TSS distance: +0.0kb			Curated enhancer-disease association ²³ ( 27569544 )	7592627 10942114

Sources

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:

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 134)

#	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	Likely pathogenic	rs121918143	GRCh37	Chromosome 2, 128183756: 128183756
6	PROC	NM_000312.3(PROC): c.631C> T (p.Arg211Trp)	single nucleotide variant	Likely pathogenic	rs121918143	GRCh38	Chromosome 2, 127426180: 127426180
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.1000G> A (p.Gly334Ser)	single nucleotide variant	Pathogenic	rs121918150	GRCh38	Chromosome 2, 127428560: 127428560
9	PROC	NM_000312.3(PROC): c.658C> T (p.Arg220Trp)	single nucleotide variant	Pathogenic	rs121918152	GRCh37	Chromosome 2, 128183783: 128183783
10	PROC	NM_000312.3(PROC): c.658C> T (p.Arg220Trp)	single nucleotide variant	Pathogenic	rs121918152	GRCh38	Chromosome 2, 127426207: 127426207
11	PROC	NM_000312.3(PROC): c.659G> A (p.Arg220Gln)	single nucleotide variant	Likely pathogenic	rs121918153	GRCh37	Chromosome 2, 128183784: 128183784
12	PROC	NM_000312.3(PROC): c.659G> A (p.Arg220Gln)	single nucleotide variant	Likely pathogenic	rs121918153	GRCh38	Chromosome 2, 127426208: 127426208
13	PROC	PROC, 1-BP DEL, 8857G	deletion	Pathogenic
14	PROC	NM_000312.3(PROC): c.814C> T (p.Arg272Cys)	single nucleotide variant	Pathogenic	rs121918154	GRCh37	Chromosome 2, 128185950: 128185950
15	PROC	NM_000312.3(PROC): c.814C> T (p.Arg272Cys)	single nucleotide variant	Pathogenic	rs121918154	GRCh38	Chromosome 2, 127428374: 127428374
16	PROC	PROC, 2-BP INS, 6139TT	insertion	Pathogenic
17	PROC	PROC, IVS7DS, C-T, +9	single nucleotide variant	Pathogenic
18	PROC	NM_000312.3(PROC): c.678G> C (p.Gln226His)	single nucleotide variant	Pathogenic	rs121918155	GRCh37	Chromosome 2, 128183803: 128183803
19	PROC	NM_000312.3(PROC): c.678G> C (p.Gln226His)	single nucleotide variant	Pathogenic	rs121918155	GRCh38	Chromosome 2, 127426227: 127426227
20	PROC	NM_000312.3(PROC): c.1015G> A (p.Val339Met)	single nucleotide variant	Pathogenic	rs121918158	GRCh37	Chromosome 2, 128186151: 128186151
21	PROC	NM_000312.3(PROC): c.1015G> A (p.Val339Met)	single nucleotide variant	Pathogenic	rs121918158	GRCh38	Chromosome 2, 127428575: 127428575
22	PROC	PROC, -14T-C	single nucleotide variant	Pathogenic
23	PROC	NM_000312.3(PROC): c.446A> C (p.His149Pro)	single nucleotide variant	Pathogenic	rs121918159	GRCh37	Chromosome 2, 128180895: 128180895
24	PROC	NM_000312.3(PROC): c.446A> C (p.His149Pro)	single nucleotide variant	Pathogenic	rs121918159	GRCh38	Chromosome 2, 127423319: 127423319
25	PROC	NM_000312.3(PROC): c.935C> T (p.Ser312Leu)	single nucleotide variant	Likely pathogenic	rs121918160	GRCh37	Chromosome 2, 128186071: 128186071
26	PROC	NM_000312.3(PROC): c.935C> T (p.Ser312Leu)	single nucleotide variant	Likely pathogenic	rs121918160	GRCh38	Chromosome 2, 127428495: 127428495
27	PROC	NM_000312.3(PROC): c.52G> A (p.Gly18Ser)	single nucleotide variant	Uncertain significance	rs146793243	GRCh37	Chromosome 2, 128177570: 128177570
28	PROC	NM_000312.3(PROC): c.52G> A (p.Gly18Ser)	single nucleotide variant	Uncertain significance	rs146793243	GRCh38	Chromosome 2, 127419994: 127419994
29	PROC	NM_000312.3(PROC): c.125G> A (p.Arg42His)	single nucleotide variant	Likely pathogenic	rs369504169	GRCh37	Chromosome 2, 128178913: 128178913
30	PROC	NM_000312.3(PROC): c.125G> A (p.Arg42His)	single nucleotide variant	Likely pathogenic	rs369504169	GRCh38	Chromosome 2, 127421337: 127421337
31	PROC	NM_000312.3(PROC): c.160A> T (p.Ser54Cys)	single nucleotide variant	Uncertain significance	rs376049280	GRCh37	Chromosome 2, 128178948: 128178948
32	PROC	NM_000312.3(PROC): c.160A> T (p.Ser54Cys)	single nucleotide variant	Uncertain significance	rs376049280	GRCh38	Chromosome 2, 127421372: 127421372
33	PROC	NM_000312.3(PROC): c.322C> A (p.His108Asn)	single nucleotide variant	Uncertain significance	rs200234655	GRCh37	Chromosome 2, 128180669: 128180669
34	PROC	NM_000312.3(PROC): c.322C> A (p.His108Asn)	single nucleotide variant	Uncertain significance	rs200234655	GRCh38	Chromosome 2, 127423093: 127423093
35	PROC	NM_000312.3(PROC): c.340G> C (p.Gly114Arg)	single nucleotide variant	Uncertain significance	rs374476971	GRCh37	Chromosome 2, 128180687: 128180687
36	PROC	NM_000312.3(PROC): c.340G> C (p.Gly114Arg)	single nucleotide variant	Uncertain significance	rs374476971	GRCh38	Chromosome 2, 127423111: 127423111
37	PROC	NM_000312.3(PROC): c.565C> T (p.Arg189Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146922325	GRCh37	Chromosome 2, 128183690: 128183690
38	PROC	NM_000312.3(PROC): c.565C> T (p.Arg189Trp)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs146922325	GRCh38	Chromosome 2, 127426114: 127426114
39	PROC	NM_000312.3(PROC): c.580C> T (p.Arg194Cys)	single nucleotide variant	Uncertain significance	rs371071104	GRCh37	Chromosome 2, 128183705: 128183705
40	PROC	NM_000312.3(PROC): c.580C> T (p.Arg194Cys)	single nucleotide variant	Uncertain significance	rs371071104	GRCh38	Chromosome 2, 127426129: 127426129
41	PROC	NM_000312.3(PROC): c.1010C> T (p.Thr337Ile)	single nucleotide variant	Uncertain significance	rs369881972	GRCh37	Chromosome 2, 128186146: 128186146
42	PROC	NM_000312.3(PROC): c.1010C> T (p.Thr337Ile)	single nucleotide variant	Uncertain significance	rs369881972	GRCh38	Chromosome 2, 127428570: 127428570
43	PROC	NM_000312.3(PROC): c.1201G> A (p.Asp401Asn)	single nucleotide variant	Pathogenic	rs142742242	GRCh37	Chromosome 2, 128186337: 128186337
44	PROC	NM_000312.3(PROC): c.1201G> A (p.Asp401Asn)	single nucleotide variant	Pathogenic	rs142742242	GRCh38	Chromosome 2, 127428761: 127428761
45	PROC	NM_000312.3(PROC): c.1234G> A (p.Gly412Ser)	single nucleotide variant	Uncertain significance	rs139741458	GRCh37	Chromosome 2, 128186370: 128186370
46	PROC	NM_000312.3(PROC): c.1234G> A (p.Gly412Ser)	single nucleotide variant	Uncertain significance	rs139741458	GRCh38	Chromosome 2, 127428794: 127428794
47	PROC	NM_000312.3(PROC): c.169C> T (p.Arg57Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs757583846	GRCh37	Chromosome 2, 128178957: 128178957
48	PROC	NM_000312.3(PROC): c.169C> T (p.Arg57Trp)	single nucleotide variant	Pathogenic/Likely pathogenic	rs757583846	GRCh38	Chromosome 2, 127421381: 127421381
49	PROC	NM_000312.3(PROC): c.1299C> T (p.Gly433=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151319700	GRCh37	Chromosome 2, 128186435: 128186435
50	PROC	NM_000312.3(PROC): c.1299C> T (p.Gly433=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs151319700	GRCh38	Chromosome 2, 127428859: 127428859

Sources

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.

Sources

Pathways for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Sources

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

Sources

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia