MCID: THR067
MIFTS: 29

Thrombophilia Due to Protein C Deficiency, Autosomal Dominant malady

Bone diseases, Blood diseases categories

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

About this section
Sources:
46OMIM, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 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:46 176860,612304

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

About this section
Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46
hereditary thrombophilia due to congenital protein c deficiency 48
hereditary thrombophilia due to pc deficiency 48


External Ids:

ICD10 via Orphanet26 D68.2
SNOMED-CT via Orphanet57 439274008

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
46OMIM, 48Orphanet
See all sources

Clinical features from OMIM:

176860,612304

Clinical synopsis from OMIM:

176860

Symptoms:

48 (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

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section

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

About this section
Sources:
32MalaCards
See all sources

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

32
Skin, Bone

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

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

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

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

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

About this section
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

About this section

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

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

Compounds related to Thrombophilia Due to Protein C Deficiency, Autosomal Dominant 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 Dominant

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet