MCID: THR068
MIFTS: 23

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive malady

Genetic diseases (common), Blood diseases categories

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 49 11 67
Protein C Deficiency Autosomal Recessive 67
 
Proc Deficiency Autosomal Recessive 67
Thph4 67


Classifications:



External Ids:

OMIM49 612304
MedGen34 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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UniProtKB/Swiss-Prot:67 Thrombophilia due to protein C deficiency, autosomal recessive: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.

MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive, also known as protein c deficiency autosomal recessive, is related to thrombophilia due to thrombin defect and thrombophilia due to protein c deficiency, autosomal recessive, and has symptoms including autosomal recessive inheritance, purpura and seizures. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is PROC (Protein C (Inactivator Of Coagulation Factors Va And VIIIa)), and among its related pathways are Metabolism of vitamins and cofactors and Glycosaminoglycan metabolism. Affiliated tissues include skin.

OMIM:49 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a... (612304) more...

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

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Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1thrombophilia due to thrombin defect10.1
2thrombophilia due to protein c deficiency, autosomal recessive9.8PC, PROC
3thrombophilia due to protein c deficiency, autosomal dominant9.7PC, PROC

Symptoms for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Symptoms by clinical synopsis from OMIM:

612304

Clinical features from OMIM:

612304

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

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 purpura HP:0000979
3 seizures HP:0001250
4 global developmental delay HP:0001263
5 pulmonary embolism HP:0002204
6 deep venous thrombosis HP:0002625
7 superficial thrombophlebitis HP:0002638
8 variable expressivity HP:0003828
9 reduced protein c activity HP:0005543
10 vitreous hemorrhage HP:0007902
11 hypercoagulability HP:0100724

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

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Interventional clinical trials:

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

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

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

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

33
Skin

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

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Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

67
id Symbol AA change Variation ID SNP ID
1PROCp.Ala178ProVAR_006660
2PROCp.Pro289LeuVAR_006679
3PROCp.Arg328HisVAR_006690
4PROCp.Gly334SerVAR_006691
5PROCp.Val367AlaVAR_006695
6PROCp.Gly418AspVAR_006703
7PROCp.Asp77GlyVAR_073145
8PROCp.Ala163GluVAR_073146

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCPROC, ARG12TRPundetermined variantPathogenic
2PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
3PROCNM_000312.3(PROC): c.902C> T (p.Ala301Val)single nucleotide variantPathogenicrs121918144GRCh37Chr 2, 128186038: 128186038
4PROCNM_000312.3(PROC): c.629C> T (p.Pro210Leu)single nucleotide variantPathogenicrs121918145GRCh37Chr 2, 128183754: 128183754
5PROCNM_000312.3(PROC): c.925G> A (p.Ala309Thr)single nucleotide variantPathogenicrs121918146GRCh37Chr 2, 128186061: 128186061
6PROCNM_000312.3(PROC): c.1027G> A (p.Gly343Ser)single nucleotide variantPathogenicrs121918147GRCh37Chr 2, 128186163: 128186163
7PROCNM_000312.3(PROC): c.185A> C (p.Glu62Ala)single nucleotide variantPathogenicrs121918148GRCh37Chr 2, 128178973: 128178973
8PROCNM_000312.3(PROC): c.226G> A (p.Val76Met)single nucleotide variantPathogenicrs121918149GRCh37Chr 2, 128179014: 128179014
9PROCNM_000312.3(PROC): c.1000G> A (p.Gly334Ser)single nucleotide variantPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
10PROCNM_000312.3(PROC): c.866C> T (p.Pro289Leu)single nucleotide variantPathogenicrs121918151GRCh37Chr 2, 128186002: 128186002
11PROCNM_000312.3(PROC): c.793C> T (p.Leu265Phe)single nucleotide variantPathogenicrs121918156GRCh37Chr 2, 128184795: 128184795
12PROCNM_000312.3(PROC): c.1335C> G (p.Ile445Met)single nucleotide variantPathogenicrs121918157GRCh37Chr 2, 128186471: 128186471

Expression for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Search GEO for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive.

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

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Pathways related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1PC, PROC
2
Show member pathways
9.1PC, PROC
3
Show member pathways
9.1PC, PROC
4
Show member pathways
9.1PC, PROC
5
Show member pathways
9.1PC, PROC
6
Show member pathways
9.1PC, PROC
7
Show member pathways
9.1PC, PROC
8
Fatty Acid Biosynthesis (WikiPathways)
Show member pathways
9.1PC, PROC
9
Show member pathways
9.1PC, PROC
10
Show member pathways
9.1PC, PROC

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

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Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet