THPH4
MCID: THR068
MIFTS: 26

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

Categories: Blood diseases, Bone diseases, Genetic diseases, Rare 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 57 53 75 13 73
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive 29 6 40
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 53 59
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 53 59
Autosomal Recessive Thrombophilia Due to Pc Deficiency 53 59
Thph4 57 75
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 53
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 53
Hereditary Thrombophilia Due to Pc Deficiency 53
Protein C Deficiency, Autosomal Recessive 57
Autosomal Recessive Protein C Deficiency 53
Protein C Deficiency Autosomal Recessive 75
Proc Deficiency, Autosomal Recessive 57
Proc Deficiency Autosomal Recessive 75

Characteristics:

Orphanet epidemiological data:

59
severe hereditary thrombophilia due to congenital protein c deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM:

57
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:

32
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 : 53 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.

MalaCards based summary : Thrombophilia Due to Protein C Deficiency, Autosomal Recessive, also known as thrombophilia, hereditary, due to protein c deficiency, autosomal recessive, is related to protein c deficiency, and has symptoms including seizures 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, and related phenotypes are pulmonary embolism and thin skin

OMIM : 57 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 : 75 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 11.5

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

Symptoms via clinical synopsis from OMIM:

57
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:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary embolism 59 32 occasional (7.5%) Occasional (29-5%) HP:0002204
2 thin skin 59 32 frequent (33%) Frequent (79-30%) HP:0000963
3 venous thrombosis 59 32 frequent (33%) Frequent (79-30%) HP:0004936
4 abnormality of the cerebral vasculature 59 32 occasional (7.5%) Occasional (29-5%) HP:0100659
5 purpura 59 32 frequent (33%) Frequent (79-30%) HP:0000979
6 venous insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0005293
7 abnormality of skin pigmentation 59 32 occasional (7.5%) Occasional (29-5%) HP:0001000
8 gangrene 59 32 occasional (7.5%) Occasional (29-5%) HP:0100758
9 warfarin-induced skin necrosis 59 32 occasional (7.5%) 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 59 Frequent (79-30%)
14 cerebral palsy 32 HP:0100021
15 deep venous thrombosis 32 HP:0002625
16 vitreous hemorrhage 32 HP:0007902
17 superficial thrombophlebitis 32 HP:0002638
18 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:

# Genetic test Affiliating Genes
1 Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive 29 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:

41
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:

75
# 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 23)
# 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.631C> T (p.Arg211Trp) single nucleotide variant Pathogenic/Likely pathogenic rs121918143 GRCh38 Chromosome 2, 127426180: 127426180
4 PROC NM_000312.3(PROC): c.902C> T (p.Ala301Val) single nucleotide variant Pathogenic rs121918144 GRCh37 Chromosome 2, 128186038: 128186038
5 PROC NM_000312.3(PROC): c.902C> T (p.Ala301Val) single nucleotide variant Pathogenic rs121918144 GRCh38 Chromosome 2, 127428462: 127428462
6 PROC NM_000312.3(PROC): c.629C> T (p.Pro210Leu) single nucleotide variant Pathogenic rs121918145 GRCh37 Chromosome 2, 128183754: 128183754
7 PROC NM_000312.3(PROC): c.629C> T (p.Pro210Leu) single nucleotide variant Pathogenic rs121918145 GRCh38 Chromosome 2, 127426178: 127426178
8 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh37 Chromosome 2, 128186061: 128186061
9 PROC NM_000312.3(PROC): c.925G> A (p.Ala309Thr) single nucleotide variant Pathogenic rs121918146 GRCh38 Chromosome 2, 127428485: 127428485
10 PROC NM_000312.3(PROC): c.1027G> A (p.Gly343Ser) single nucleotide variant Pathogenic rs121918147 GRCh37 Chromosome 2, 128186163: 128186163
11 PROC NM_000312.3(PROC): c.1027G> A (p.Gly343Ser) single nucleotide variant Pathogenic rs121918147 GRCh38 Chromosome 2, 127428587: 127428587
12 PROC NM_000312.3(PROC): c.185A> C (p.Glu62Ala) single nucleotide variant Pathogenic rs121918148 GRCh37 Chromosome 2, 128178973: 128178973
13 PROC NM_000312.3(PROC): c.185A> C (p.Glu62Ala) single nucleotide variant Pathogenic rs121918148 GRCh38 Chromosome 2, 127421397: 127421397
14 PROC NM_000312.3(PROC): c.226G> A (p.Val76Met) single nucleotide variant Pathogenic rs121918149 GRCh37 Chromosome 2, 128179014: 128179014
15 PROC NM_000312.3(PROC): c.226G> A (p.Val76Met) single nucleotide variant Pathogenic rs121918149 GRCh38 Chromosome 2, 127421438: 127421438
16 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh37 Chromosome 2, 128186136: 128186136
17 PROC NM_000312.3(PROC): c.1000G> A (p.Gly334Ser) single nucleotide variant Pathogenic rs121918150 GRCh38 Chromosome 2, 127428560: 127428560
18 PROC NM_000312.3(PROC): c.866C> T (p.Pro289Leu) single nucleotide variant Pathogenic rs121918151 GRCh37 Chromosome 2, 128186002: 128186002
19 PROC NM_000312.3(PROC): c.866C> T (p.Pro289Leu) single nucleotide variant Pathogenic rs121918151 GRCh38 Chromosome 2, 127428426: 127428426
20 PROC NM_000312.3(PROC): c.793C> T (p.Leu265Phe) single nucleotide variant Pathogenic rs121918156 GRCh37 Chromosome 2, 128184795: 128184795
21 PROC NM_000312.3(PROC): c.793C> T (p.Leu265Phe) single nucleotide variant Pathogenic rs121918156 GRCh38 Chromosome 2, 127427219: 127427219
22 PROC NM_000312.3(PROC): c.1335C> G (p.Ile445Met) single nucleotide variant Pathogenic rs121918157 GRCh37 Chromosome 2, 128186471: 128186471
23 PROC NM_000312.3(PROC): c.1335C> G (p.Ile445Met) single nucleotide variant Pathogenic rs121918157 GRCh38 Chromosome 2, 127428895: 127428895

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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74 UMLS via Orphanet
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