THPH4
MCID: THR068
MIFTS: 26

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive (THPH4) malady

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

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

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

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 54 50 66 13 69
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 50 29
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 50 56
Hereditary Thrombophilia Due to Pc Deficiency 50 56
Autosomal Recessive Protein C Deficiency 50
Protein C Deficiency Autosomal Recessive 66
Proc Deficiency Autosomal Recessive 66
Thph4 66

Characteristics:

Orphanet epidemiological data:

56
hereditary thrombophilia due to congenital protein c deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

HPO:

32
thrombophilia due to protein c deficiency, autosomal recessive:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 54 612304
Orphanet 56 ORPHA745
ICD10 via Orphanet 34 D68.2
MedGen 40 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

NIH Rare Diseases : 50 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 pulmonary embolism, thin skin and venous thrombosis. 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 liver, skin and bone.

OMIM : 54 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a... (612304) more...

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 protein c deficiency 10.9
2 thrombophilia due to thrombin defect 10.9

Symptoms & Phenotypes for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Symptoms by clinical synopsis from OMIM:

612304

Clinical features from OMIM:

612304

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

56 32 (show all 17)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary embolism 56 32 Occasional (29-5%) HP:0002204
2 thin skin 56 32 Frequent (79-30%) HP:0000963
3 venous thrombosis 56 32 Frequent (79-30%) HP:0004936
4 abnormality of the cerebral vasculature 56 32 Occasional (29-5%) HP:0100659
5 purpura 56 32 Frequent (79-30%) HP:0000979
6 venous insufficiency 56 32 Occasional (29-5%) HP:0005293
7 abnormality of skin pigmentation 56 32 Occasional (29-5%) HP:0001000
8 gangrene 56 32 Occasional (29-5%) HP:0100758
9 warfarin-induced skin necrosis 56 32 Occasional (29-5%) HP:0001038
10 seizures 32 HP:0001250
11 global developmental delay 32 HP:0001263
12 hypercoagulability 32 HP:0100724
13 aplasia/hypoplasia of the skin 56 Frequent (79-30%)
14 deep venous thrombosis 32 HP:0002625
15 vitreous hemorrhage 32 HP:0007902
16 superficial thrombophlebitis 32 HP:0002638
17 reduced protein c activity 32 HP:0005543

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


seizures

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

Search Clinical Trials , NIH Clinical Center for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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

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 Recessive 29

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

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

39
Liver, Skin, Bone

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

UniProtKB/Swiss-Prot genetic disease variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

66
id Symbol AA change Variation ID SNP ID
1 PROC p.Ala178Pro VAR_006660
2 PROC p.Pro289Leu VAR_006679 rs121918151
3 PROC p.Arg328His VAR_006690
4 PROC p.Gly334Ser VAR_006691 rs121918150
5 PROC p.Val367Ala VAR_006695 rs767730328
6 PROC p.Gly418Asp VAR_006703
7 PROC p.Asp77Gly VAR_073145
8 PROC p.Ala163Glu VAR_073146

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

6 (show all 12)
id Gene Variation Type Significance SNP ID Assembly Location
1 PROC PROC, ARG12TRP undetermined variant Pathogenic
2 PROC NM_000312.3(PROC): c.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh37 Chromosome 2, 128183756: 128183756
3 PROC NM_000312.3(PROC): c.902C> T (p.Ala301Val) single nucleotide variant Pathogenic rs121918144 GRCh37 Chromosome 2, 128186038: 128186038
4 PROC NM_000312.3(PROC): c.629C> T (p.Pro210Leu) single nucleotide variant Pathogenic rs121918145 GRCh37 Chromosome 2, 128183754: 128183754
5 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh37 Chromosome 2, 128186061: 128186061
6 PROC NM_000312.3(PROC): c.1027G> A (p.Gly343Ser) single nucleotide variant Pathogenic rs121918147 GRCh37 Chromosome 2, 128186163: 128186163
7 PROC NM_000312.3(PROC): c.185A> C (p.Glu62Ala) single nucleotide variant Pathogenic rs121918148 GRCh37 Chromosome 2, 128178973: 128178973
8 PROC NM_000312.3(PROC): c.226G> A (p.Val76Met) single nucleotide variant Pathogenic rs121918149 GRCh37 Chromosome 2, 128179014: 128179014
9 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
10 PROC NM_000312.3(PROC): c.866C> T (p.Pro289Leu) single nucleotide variant Pathogenic rs121918151 GRCh37 Chromosome 2, 128186002: 128186002
11 PROC NM_000312.3(PROC): c.793C> T (p.Leu265Phe) single nucleotide variant Pathogenic rs121918156 GRCh37 Chromosome 2, 128184795: 128184795
12 PROC NM_000312.3(PROC): c.1335C> G (p.Ile445Met) single nucleotide variant Pathogenic rs121918157 GRCh37 Chromosome 2, 128186471: 128186471

Expression for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Search GEO for disease gene expression data for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive.

Pathways for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

GO Terms for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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70 UMLS via Orphanet
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