MCID: THR068
MIFTS: 12

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive malady

Genetic diseases (common), Blood diseases categories
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Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive and has symptoms including An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is PROC (protein C (inactivator of coagulation factors Va and VIIIa)). The compound adp have been mentioned in the context of this disorder.

Description from OMIM:46 612304

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 46


Classifications:

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


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

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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 10)
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

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

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Drug clinical trials:

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

Search 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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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:

64
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

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

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1PROCPROC, ARG12TRPundetermined variantPathogenic
2PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantPathogenicrs121918143GRCh37Chr 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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Expression patterns in normal tissues for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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

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Sources:
44Novoseek, 28IUPHAR, 24HMDB
See all sources

Compounds related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp44 28 2411.1PC, PROC

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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet