MCID: THR067
MIFTS: 24

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Genetic diseases, Bone diseases, Blood diseases, Rare diseases categories
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Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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47OMIM, 33MalaCards
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MalaCards: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, is also known as hereditary thrombophilia due to congenital protein c deficiency, and has symptoms including cerebral vascular anomalies, gangrena/necrosis and varices/varicous veins/venous insufficiency. 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 skin and bone.

Description from OMIM:47 176860,612304

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

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47OMIM, 49Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases, Blood diseases


Characteristics (Orphanet epidemiological data):

49
hereditary thrombophilia due to congenital protein c deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Childhood


Aliases & Descriptions:

thrombophilia due to protein c deficiency, autosomal dominant 47
hereditary thrombophilia due to congenital protein c deficiency 49
hereditary thrombophilia due to pc deficiency 49


External Ids:

ICD10 via Orphanet26 D68.2
SNOMED-CT via Orphanet59 439274008

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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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

176860

Clinical features from OMIM:

176860,612304

Symptoms:

49 (show all 11)
  • cerebral vascular anomalies
  • gangrena/necrosis
  • varices/varicous veins/venous insufficiency
  • pulmonary thromboembolism
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • chronic skin infection/ulcerations/ulcers/cancrum
  • venous thrombosis/phlebitis/thrombophlebitis
  • purpura/petichiae
  • thin skin
  • skin hypoplasia/aplasia/atrophy
  • autosomal recessive inheritance

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

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42NIH Clinical Center, 6ClinicalTrials
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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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33MalaCards
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MalaCards organs/tissues related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

33
Skin, Bone

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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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

64 (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:

1 (show all 14)
id Gene Name 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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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:
45Novoseek, 29IUPHAR, 24HMDB
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Compounds related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1adp45 29 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

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet