MCID: THR067
MIFTS: 17

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Genetic diseases (common), Blood diseases categories

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 45 10


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Blood diseases


External Ids:

OMIM45 176860

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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OMIM:45 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 and has symptoms including autosomal dominant inheritance, abnormality of the eye and abnormality of the nervous system. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant is PROC (protein C (inactivator of coagulation factors Va and VIIIa)). The compound adp have been mentioned in the context of this disorder. Affiliated tissues include eye and skin.

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

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Symptoms for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Symptoms by clinical synopsis from OMIM:

176860

Clinical features from OMIM:

176860

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

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the eye HP:0000478
3 abnormality of the nervous system HP:0000707
4 warfarin-induced skin necrosis HP:0001038
5 pulmonary embolism HP:0002204
6 deep venous thrombosis HP:0002625
7 superficial thrombophlebitis HP:0002638
8 cerebral venous thrombosis HP:0005305
9 reduced protein c activity HP:0005543

Drugs & Therapeutics for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Drug clinical trials:

Search ClinicalTrials for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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

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:

31
Eye, Skin

Animal Models for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant or affiliated genes

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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:

62 (show all 25)
id Symbol AA change Variation ID SNP ID
1PROCp.Arg32CysVAR_006635
2PROCp.Arg57TrpVAR_006642
3PROCp.Glu62AlaVAR_006645
4PROCp.Val76MetVAR_006646
5PROCp.Gly114ArgVAR_006651
6PROCp.Gly145ArgVAR_006656
7PROCp.Pro210LeuVAR_006664
8PROCp.Arg211TrpVAR_006665rs28933986
9PROCp.Arg220TrpVAR_006668
10PROCp.Arg220GlnVAR_006669
11PROCp.Ile243ThrVAR_006671
12PROCp.Arg272CysVAR_006677
13PROCp.Pro321LeuVAR_006687
14PROCp.Gly324ArgVAR_006688
15PROCp.Arg328CysVAR_006689
16PROCp.Thr340MetVAR_006692
17PROCp.Pro369LeuVAR_006696
18PROCp.Gly392ArgVAR_006700
19PROCp.Asp401AsnVAR_006702
20PROCp.Gly423SerVAR_006704
21PROCp.Cys426TyrVAR_006705
22PROCp.Thr436AsnVAR_006707
23PROCp.Tyr441HisVAR_006708
24PROCp.Trp444CysVAR_006709
25PROCp.Arg42SerVAR_055074

Clinvar genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCNM_000312.3(PROC): c.1042C> T (p.Arg348Ter)single nucleotide variantPathogenicrs121918141GRCh37Chr 2, 128186178: 128186178
2PROCNM_000312.3(PROC): c.1332G> C (p.Trp444Cys)single nucleotide variantPathogenicrs121918142GRCh37Chr 2, 128186468: 128186468
3PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantPathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
4PROCNM_000312.3(PROC): c.658C> T (p.Arg220Trp)single nucleotide variantPathogenicrs121918152GRCh37Chr 2, 128183783: 128183783
5PROCNM_000312.3(PROC): c.659G> A (p.Arg220Gln)single nucleotide variantPathogenicrs121918153GRCh37Chr 2, 128183784: 128183784
6PROCPROC, 1-BP DEL, 8857GdeletionPathogenic
7PROCNM_000312.3(PROC): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918154GRCh37Chr 2, 128185950: 128185950
8PROCPROC, 2-BP INS, 6139TTinsertionPathogenic
9PROCPROC, IVS7DS, C-T, +9single nucleotide variantPathogenic
10PROCNM_000312.3(PROC): c.678G> C (p.Gln226His)single nucleotide variantPathogenicrs121918155GRCh37Chr 2, 128183803: 128183803
11PROCNM_000312.3(PROC): c.1015G> A (p.Val339Met)single nucleotide variantPathogenicrs121918158GRCh37Chr 2, 128186151: 128186151
12PROCPROC, -14T-Csingle nucleotide variantPathogenic
13PROCNM_000312.3(PROC): c.446A> C (p.His149Pro)single nucleotide variantPathogenicrs121918159GRCh37Chr 2, 128180895: 128180895
14PROCNM_000312.3(PROC): c.935C> T (p.Ser312Leu)single nucleotide variantPathogenicrs121918160GRCh37Chr 2, 128186071: 128186071

Expression for genes affiliated with 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.

Pathways for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Compounds for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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Sources:
43Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1adp43 28 2411.1PC, PROC

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

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Products for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet