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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MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Dominant, is also known as hereditary thrombophilia due to congenital protein c deficiency, 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. Affiliated tissues include skin and bone.

Descriptions from OMIM:46 176860,612304

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

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Sources:
46OMIM, 48Orphanet, 26ICD10 via Orphanet
See all sources

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

Name: 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


Classifications:

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


External Ids:

ICD10 via Orphanet26 D68.2

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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Symptoms by clinical synopsis from OMIM:

176860

Clinical features from OMIM:

176860,612304

Symptoms:

48 (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

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

(show all 18)
id Description Frequency HPO Source Accession
1 thin skin typical (50%) HP:0000963
2 subcutaneous hemorrhage typical (50%) HP:0001933
3 thrombophlebitis typical (50%) HP:0004418
4 abnormality of skin pigmentation occasional (7.5%) HP:0001000
5 pulmonary embolism occasional (7.5%) HP:0002204
6 venous insufficiency occasional (7.5%) HP:0005293
7 abnormality of the cerebral vasculature occasional (7.5%) HP:0100659
8 gangrene occasional (7.5%) HP:0100758
9 skin ulcer occasional (7.5%) HP:0200042
10 autosomal dominant inheritance HP:0000006
11 abnormality of the eye HP:0000478
12 abnormality of the nervous system HP:0000707
13 warfarin-induced skin necrosis HP:0001038
14 pulmonary embolism HP:0002204
15 deep venous thrombosis HP:0002625
16 superficial thrombophlebitis HP:0002638
17 cerebral venous thrombosis HP:0005305
18 reduced protein c activity HP:0005543

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

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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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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

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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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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:

6 (show all 25)
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
3PROCPROC, ARG12TRPundetermined variantPathogenic
4PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantPathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
5PROCNM_000312.3(PROC): c.902C> T (p.Ala301Val)single nucleotide variantPathogenicrs121918144GRCh37Chr 2, 128186038: 128186038
6PROCNM_000312.3(PROC): c.629C> T (p.Pro210Leu)single nucleotide variantPathogenicrs121918145GRCh37Chr 2, 128183754: 128183754
7PROCNM_000312.3(PROC): c.925G> A (p.Ala309Thr)single nucleotide variantPathogenicrs121918146GRCh37Chr 2, 128186061: 128186061
8PROCNM_000312.3(PROC): c.1027G> A (p.Gly343Ser)single nucleotide variantPathogenicrs121918147GRCh37Chr 2, 128186163: 128186163
9PROCNM_000312.3(PROC): c.185A> C (p.Glu62Ala)single nucleotide variantPathogenicrs121918148GRCh37Chr 2, 128178973: 128178973
10PROCNM_000312.3(PROC): c.226G> A (p.Val76Met)single nucleotide variantPathogenicrs121918149GRCh37Chr 2, 128179014: 128179014
11PROCNM_000312.3(PROC): c.1000G> A (p.Gly334Ser)single nucleotide variantPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
12PROCNM_000312.3(PROC): c.866C> T (p.Pro289Leu)single nucleotide variantPathogenicrs121918151GRCh37Chr 2, 128186002: 128186002
13PROCNM_000312.3(PROC): c.658C> T (p.Arg220Trp)single nucleotide variantPathogenicrs121918152GRCh37Chr 2, 128183783: 128183783
14PROCNM_000312.3(PROC): c.659G> A (p.Arg220Gln)single nucleotide variantPathogenicrs121918153GRCh37Chr 2, 128183784: 128183784
15PROCPROC, 1-BP DEL, 8857GdeletionPathogenic
16PROCNM_000312.3(PROC): c.814C> T (p.Arg272Cys)single nucleotide variantPathogenicrs121918154GRCh37Chr 2, 128185950: 128185950
17PROCPROC, 2-BP INS, 6139TTinsertionPathogenic
18PROCPROC, IVS7DS, C-T, +9single nucleotide variantPathogenic
19PROCNM_000312.3(PROC): c.678G> C (p.Gln226His)single nucleotide variantPathogenicrs121918155GRCh37Chr 2, 128183803: 128183803
20PROCNM_000312.3(PROC): c.793C> T (p.Leu265Phe)single nucleotide variantPathogenicrs121918156GRCh37Chr 2, 128184795: 128184795
21PROCNM_000312.3(PROC): c.1335C> G (p.Ile445Met)single nucleotide variantPathogenicrs121918157GRCh37Chr 2, 128186471: 128186471
22PROCNM_000312.3(PROC): c.1015G> A (p.Val339Met)single nucleotide variantPathogenicrs121918158GRCh37Chr 2, 128186151: 128186151
23PROCPROC, -14T-Csingle nucleotide variantPathogenic
24PROCNM_000312.3(PROC): c.446A> C (p.His149Pro)single nucleotide variantPathogenicrs121918159GRCh37Chr 2, 128180895: 128180895
25PROCNM_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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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:
44Novoseek, 28IUPHAR, 24HMDB
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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

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

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  • Antibodies
  • Proteins
  • Lysates

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Dominant

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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