MCID: THR067
MIFTS: 17

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Genetic diseases (common), Blood diseases categories

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section


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.

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

About this section

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

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

About this section

Symptoms for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section

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

About this section

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

About this section

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

About this section

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

About this section

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section

Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section

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

About this section
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

About this section

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

About this section
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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section
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