MCID: THR068
MIFTS: 26

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 51 47 69 12 67
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 47 26
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 47 53
Hereditary Thrombophilia Due to Pc Deficiency 47 53
 
Protein C Deficiency Autosomal Recessive 69
Autosomal Recessive Protein C Deficiency 47
Proc Deficiency Autosomal Recessive 69
Thph4 69

Characteristics:

Orphanet epidemiological data:

53
hereditary thrombophilia due to congenital protein c deficiency:
Inheritance: Autosomal recessive; Age of onset: Childhood

HPO:

63
thrombophilia due to protein c deficiency, autosomal recessive:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 612304
Orphanet53 ORPHA745
ICD10 via Orphanet30 D68.2
MedGen36 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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NIH Rare Diseases:47 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:51 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a... (612304) more...

UniProtKB/Swiss-Prot:69 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 deficiency11.3
2thrombophilia due to thrombin defect10.9

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

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

 63 53 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 thin skin63 53 typical (50%) Frequent (79-30%) HP:0000963
2 subcutaneous hemorrhage63 typical (50%) HP:0001933
3 thrombophlebitis63 typical (50%) HP:0004418
4 abnormality of skin pigmentation63 53 occasional (7.5%) Occasional (29-5%) HP:0001000
5 pulmonary embolism63 53 occasional (7.5%) Occasional (29-5%) HP:0002204
6 venous insufficiency63 53 occasional (7.5%) Occasional (29-5%) HP:0005293
7 abnormality of the cerebral vasculature63 53 occasional (7.5%) Occasional (29-5%) HP:0100659
8 gangrene63 53 occasional (7.5%) Occasional (29-5%) HP:0100758
9 skin ulcer63 occasional (7.5%) HP:0200042
10 purpura63 53 Frequent (79-30%) HP:0000979
11 seizures63 HP:0001250
12 global developmental delay63 HP:0001263
13 deep venous thrombosis63 HP:0002625
14 superficial thrombophlebitis63 HP:0002638
15 reduced protein c activity63 HP:0005543
16 vitreous hemorrhage63 HP:0007902
17 hypercoagulability63 HP:0100724
18 warfarin-induced skin necrosis53 Occasional (29-5%)
19 venous thrombosis53 Frequent (79-30%)
20 aplasia/hypoplasia of the skin53 Frequent (79-30%)

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 Recessive26

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:

35
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:

69
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 variantPathogenicChr na, -1: -1
2PROCNM_000312.3(PROC): c.631C> T (p.Arg211Trp)SNVLikely pathogenic, Pathogenicrs121918143GRCh37Chr 2, 128183756: 128183756
3PROCNM_000312.3(PROC): c.902C> T (p.Ala301Val)SNVPathogenicrs121918144GRCh37Chr 2, 128186038: 128186038
4PROCNM_000312.3(PROC): c.629C> T (p.Pro210Leu)SNVPathogenicrs121918145GRCh37Chr 2, 128183754: 128183754
5PROCNM_000312.3(PROC): c.925G> A (p.Ala309Thr)SNVPathogenicrs121918146GRCh37Chr 2, 128186061: 128186061
6PROCNM_000312.3(PROC): c.1027G> A (p.Gly343Ser)SNVPathogenicrs121918147GRCh37Chr 2, 128186163: 128186163
7PROCNM_000312.3(PROC): c.185A> C (p.Glu62Ala)SNVPathogenicrs121918148GRCh37Chr 2, 128178973: 128178973
8PROCNM_000312.3(PROC): c.226G> A (p.Val76Met)SNVPathogenicrs121918149GRCh37Chr 2, 128179014: 128179014
9PROCNM_000312.3(PROC): c.1000G> A (p.Gly334Ser)SNVPathogenicrs121918150GRCh37Chr 2, 128186136: 128186136
10PROCNM_000312.3(PROC): c.866C> T (p.Pro289Leu)SNVPathogenicrs121918151GRCh37Chr 2, 128186002: 128186002
11PROCNM_000312.3(PROC): c.793C> T (p.Leu265Phe)SNVPathogenicrs121918156GRCh37Chr 2, 128184795: 128184795
12PROCNM_000312.3(PROC): c.1335C> G (p.Ile445Met)SNVPathogenicrs121918157GRCh37Chr 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet