MCID: THR068
MIFTS: 26

Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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

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

MalaCards integrated aliases for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

Name: Thrombophilia Due to Protein C Deficiency, Autosomal Recessive 53 49 71 13 69
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 49 55
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 49 55
Autosomal Recessive Thrombophilia Due to Pc Deficiency 49 55
Thph4 53 71
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive 28
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 49
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 49
Hereditary Thrombophilia Due to Pc Deficiency 49
Protein C Deficiency, Autosomal Recessive 53
Autosomal Recessive Protein C Deficiency 49
Protein C Deficiency Autosomal Recessive 71
Proc Deficiency, Autosomal Recessive 53
Proc Deficiency Autosomal Recessive 71

Characteristics:

Orphanet epidemiological data:

55
severe hereditary thrombophilia due to congenital protein c deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
see also autosomal dominant form
may be lethal in infancy if untreated
occasional late-onset of symptoms with homozygosity (e.g. protein c deficiency, homozygous)


HPO:

31
thrombophilia due to protein c deficiency, autosomal recessive:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

NIH Rare Diseases : 49 Autosomal recessiveprotein C deficiency is an inherited blood clotting disorder characterized by serious protein C deficiency. The disease may be very severe and associated with neonatal purpura fulminans (NPF) or intracranial thromboembolism. It may also be a milder disorder where patients present with clotting (venous thromboembolism) in childhood, adolescence, or adulthood.  It is caused by having changes in the PROC gene. The inheritance pattern is autosomal recessive. Treatment depends on the severity of the disease and may involve blood thinners, clot-dissolving medicines, or blood transfusions of fresh frozen plasma or highly purified protein C concentrate. In some cases, live 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 thrombophilia due to congenital protein c deficiency, is related to protein c deficiency, 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 skin, liver and bone.

OMIM : 53 Autosomal recessive protein C deficiency resulting from homozygous or compound heterozygous PROC mutations is a thrombotic condition that can manifest as a severe neonatal disorder or as a milder disorder with late-onset thrombophilia (Millar et al., 2000). (612304)

UniProtKB/Swiss-Prot : 71 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:

# Related Disease Score Top Affiliating Genes
1 protein c deficiency 11.3

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

Symptoms via clinical synopsis from OMIM:

53
Neurologic Central Nervous System:
seizures
developmental delay
spastic cerebral palsy
periventricular hemorrhagic infarction

Cardiovascular Vascular:
deep venous thrombosis
superficial thrombophlebitis
intraabdominal venous thrombosis

Head And Neck Eyes:
neonatal vitreous hemorrhages

Respiratory Lung:
pulmonary embolism

Laboratory Abnormalities:
plasma protein c deficiency

Skin Nails Hair Skin:
neonatal purpura fulminans


Clinical features from OMIM:

612304

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

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary embolism 55 31 occasional (7.5%) Occasional (29-5%) HP:0002204
2 thin skin 55 31 frequent (33%) Frequent (79-30%) HP:0000963
3 venous thrombosis 55 31 frequent (33%) Frequent (79-30%) HP:0004936
4 abnormality of the cerebral vasculature 55 31 occasional (7.5%) Occasional (29-5%) HP:0100659
5 purpura 55 31 frequent (33%) Frequent (79-30%) HP:0000979
6 venous insufficiency 55 31 occasional (7.5%) Occasional (29-5%) HP:0005293
7 abnormality of skin pigmentation 55 31 occasional (7.5%) Occasional (29-5%) HP:0001000
8 gangrene 55 31 occasional (7.5%) Occasional (29-5%) HP:0100758
9 warfarin-induced skin necrosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0001038
10 seizures 31 HP:0001250
11 global developmental delay 31 HP:0001263
12 hypercoagulability 31 HP:0100724
13 aplasia/hypoplasia of the skin 55 Frequent (79-30%)
14 deep venous thrombosis 31 HP:0002625
15 vitreous hemorrhage 31 HP:0007902
16 superficial thrombophlebitis 31 HP:0002638
17 reduced protein c activity 31 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:

# Genetic test Affiliating Genes
1 Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive 28 PROC

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

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

38
Skin, Liver, 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:

71
# 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)
# 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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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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