MCID: THR067
MIFTS: 15

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Blood category

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Sources:
47OMIM, 33MalaCards
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MalaCards: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, also known as hereditary thrombophilia due to congenital protein c deficiency, is related to obesity and thrombophilia, and has symptoms including autosomal recessive inheritance, skin hypoplasia/aplasia/atrophy and thin skin. 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.

Description from OMIM:47 176860,612304

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood


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

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

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1obesity10.0PC
2thrombophilia10.0PROC

Clinical Features for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

176860,612304

Clinical synopsis from OMIM:

176860

Symptoms:

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

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

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

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

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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Genetic Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant:

63 (show all 25)
id Symbol AA change Variation 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

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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

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

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

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet