MCID: THR068
MIFTS: 30

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Blood diseases

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 50 46 68 12 66
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 46 25
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 46 52
Hereditary Thrombophilia Due to Pc Deficiency 46 52
 
Protein C Deficiency Autosomal Recessive 68
Autosomal Recessive Protein C Deficiency 46
Proc Deficiency Autosomal Recessive 68
Thph4 68

Characteristics:

Orphanet epidemiological data:

52
hereditary thrombophilia due to congenital protein c deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

62
thrombophilia due to protein c deficiency, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity


Classifications:



External Ids:

OMIM50 612304
Orphanet52 ORPHA745
ICD10 via Orphanet29 D68.2
MedGen35 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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NIH Rare Diseases:46 Autosomal recessive protein c deficiency is an inherited coagulation disorder characterized by serious protein c deficiency. the disease may be very severe, and can be associated with a condition known as neonatal purpura fulminans (npf) or intracranial thromboembolism, or be a milder disorder with late-onset thrombophilia where some patients present with venous thromboembolism (vte) in childhood, adolescence or adulthood.  it is caused when people have two identical mutations on both copies (alleles) of the proc gene (homozygous) or when both alleles of the gene have mutations, but the mutations are different (compound heterozygous). the inheritance is autosomal recessive. treatment depends on the severity of the disease and may involve fresh frozen plasma, highly purified protein c concentrate (ceprotin), anticoagulation and/or fibrinolytic medication and, in some cases, liver donor liver transplantation which cures the disease. last updated: 6/7/2016

MalaCards based summary: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive, also known as autosomal recessive hereditary thrombophilia due to protein c deficiency, is related to protein c deficiency and thrombophilia due to thrombin defect, and has symptoms including thin skin, subcutaneous hemorrhage and thrombophlebitis. An important gene associated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive is PROC (Protein C, Inactivator Of Coagulation Factors Va And VIIIa). Affiliated tissues include skin, liver and bone.

OMIM:50 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a... (612304) more...

UniProtKB/Swiss-Prot:68 Thrombophilia due to protein C deficiency, autosomal recessive: A hemostatic disorder characterized by impaired regulation of blood coagulation and a tendency to recurrent venous thrombosis. It results in a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia. The severe form leads to neonatal death through massive neonatal venous thrombosis. Often associated with ecchymotic skin lesions which can turn necrotic called purpura fulminans, this disorder is very rare.

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

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Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1protein c deficiency10.0
2thrombophilia due to thrombin defect10.0
3thrombophilia due to protein c deficiency, autosomal recessive9.5PC, PROC
4thrombophilia due to protein c deficiency, autosomal dominant9.2PC, PROC

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

Symptoms:

 52 (show all 10)
  • thin skin
  • purpura
  • abnormality of skin pigmentation
  • warfarin-induced skin necrosis
  • pulmonary embolism
  • venous thrombosis
  • venous insufficiency
  • aplasia/hypoplasia of the skin
  • abnormality of the cerebral vasculature
  • gangrene

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

(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 purpura HP:0000979
11 seizures HP:0001250
12 global developmental delay HP:0001263
13 pulmonary embolism HP:0002204
14 deep venous thrombosis HP:0002625
15 superficial thrombophlebitis HP:0002638
16 reduced protein c activity HP:0005543
17 vitreous hemorrhage HP:0007902
18 hypercoagulability HP:0100724

UMLS symptoms related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:


seizures

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

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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

id Genetic test Affiliating Genes
1 Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive25

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

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

34
Skin, Liver, Bone

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:

68
id Symbol AA change Variation ID SNP ID
1PROCp.Ala178ProVAR_006660
2PROCp.Pro289LeuVAR_006679rs121918151
3PROCp.Arg328HisVAR_006690
4PROCp.Gly334SerVAR_006691rs121918150
5PROCp.Val367AlaVAR_006695rs767730328
6PROCp.Gly418AspVAR_006703
7PROCp.Asp77GlyVAR_073145
8PROCp.Ala163GluVAR_073146

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

5 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1PROCPROC, ARG12TRPundetermined variantPathogenic
2PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)single nucleotide variantLikely pathogenic, Pathogenicrs121918143GRCh37Chr 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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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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GO Terms for genes affiliated with Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet