THPH4
MCID: THR068
MIFTS: 38

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 20 72 13 70
Thrombophilia, Hereditary, Due to Protein C Deficiency, Autosomal Recessive 29 6 44 39
Thph4 57 12 72
Autosomal Recessive Thrombophilia Due to Congenital Protein C Deficiency 20 58
Severe Hereditary Thrombophilia Due to Congenital Protein C Deficiency 20 58
Autosomal Recessive Thrombophilia Due to Protein C Deficiency 12 15
Autosomal Recessive Thrombophilia Due to Pc Deficiency 20 58
Autosomal Recessive Protein C Deficiency 12 20
Autosomal Recessive Hereditary Thrombophilia Due to Protein C Deficiency 20
Hereditary Thrombophilia Due to Congenital Protein C Deficiency 20
Hereditary Thrombophilia Due to Pc Deficiency 20
Protein C Deficiency, Autosomal Recessive 57
Protein C Deficiency Autosomal Recessive 72
Proc Deficiency, Autosomal Recessive 57
Autosomal Recessive Proc Deficiency 12
Proc Deficiency Autosomal Recessive 72

Characteristics:

Orphanet epidemiological data:

58
severe hereditary thrombophilia due to congenital protein c deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
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:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare systemic and rhumatological diseases
Rare bone diseases
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111904
OMIM® 57 612304
OMIM Phenotypic Series 57 PS188050
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0398625 C2930896
Orphanet 58 ORPHA745
MedGen 41 C2676759
UMLS 70 C2676759

Summaries for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

GARD : 20 Autosomal recessive protein 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 thrombophlebitis, 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, and related phenotypes are venous thrombosis and purpura

Disease Ontology : 12 A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has material basis in homozygous or compound heterozygous mutation in PROC on chromosome 2q14.3.

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) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 11.2
2 thrombophlebitis 9.7 PROC ALB
3 vein disease 9.7 PROC ALB
4 pulmonary embolism 9.7 PROC ALB
5 blood coagulation disease 9.6 PROC ALB
6 hemorrhagic disease 9.6 PROC ALB
7 thrombocytopenia 9.5 PROC ALB

Graphical network of the top 20 diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:



Diseases related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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

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

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 venous thrombosis 58 31 frequent (33%) Frequent (79-30%) HP:0004936
2 purpura 58 31 frequent (33%) Frequent (79-30%) HP:0000979
3 thin skin 58 31 frequent (33%) Frequent (79-30%) HP:0000963
4 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
5 pulmonary embolism 58 31 occasional (7.5%) Occasional (29-5%) HP:0002204
6 venous insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0005293
7 abnormality of skin pigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001000
8 gangrene 58 31 occasional (7.5%) Occasional (29-5%) HP:0100758
9 warfarin-induced skin necrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001038
10 global developmental delay 31 HP:0001263
11 aplasia/hypoplasia of the skin 58 Frequent (79-30%)
12 vitreous hemorrhage 31 HP:0007902
13 cerebral palsy 31 HP:0100021
14 hypercoagulability 31 HP:0100724
15 deep venous thrombosis 31 HP:0002625
16 reduced protein c activity 31 HP:0005543
17 superficial thrombophlebitis 31 HP:0002638
18 seizure 31 HP:0001250

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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

Cochrane evidence based reviews: thrombophilia, hereditary, 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:

40
Skin

Publications for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

Articles related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive:

(show top 50) (show all 90)
# Title Authors PMID Year
1
Molecular genetic analysis of severe protein C deficiency. 57 6
10942114 2000
2
A novel compound heterozygous mutations in protein C gene causing neonatal purpura fulminans. 6
29356699 2018
3
Genetic characterization of antithrombin, protein C, and protein S deficiencies in Polish patients. 6
28607330 2017
4
The clinical presentation and genotype of protein C deficiency with double mutations of the protein C gene. 6
28111891 2017
5
Thrombin activation of protein C requires prior processing by a liver proprotein convertase. 6
28468828 2017
6
Two novel compound heterozygous mutations associated with types I and II protein C deficiency with unusual phenotypes. 6
27517348 2016
7
Activation-resistant homozygous protein C R229W mutation causing familial perinatal intracranial hemorrhage and delayed onset of thrombosis. 6
27172833 2016
8
Compound heterozygous protein C deficiency in a family with venous thrombosis: Identification and in vitro study of p.Asp297His and p.Val420Leu mutations. 6
25748729 2015
9
Two nonsense mutations cause protein C deficiency by nonsense-mediated mRNA decay. 6
25648792 2015
10
Hereditary protein C deficiency caused by compound heterozygous mutants in two independent Chinese families. 6
25393254 2014
11
Clinical and laboratory characteristics of children with venous thromboembolism and protein C-deficiency: an observational Israeli-German cohort study. 6
25039884 2014
12
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis. 6
24782131 2014
13
Deficiency of antithrombin and protein C gene in 202 Chinese venous thromboembolism patients. 6
24028705 2014
14
Distinct frequencies and mutation spectrums of genetic thrombophilia in Korea in comparison with other Asian countries both in patients with thromboembolism and in the general population. 6
24162787 2014
15
Common genetic risk factors for venous thrombosis in the Chinese population. 6
23332921 2013
16
PROC c.574_576del polymorphism: a common genetic risk factor for venous thrombosis in the Chinese population. 6
22817391 2012
17
Deficiencies of antithrombin, protein C and protein S - practical experience in genetic analysis of a large patient cohort. 6
22627591 2012
18
Genetic background analysis of protein C deficiency demonstrates a recurrent mutation associated with venous thrombosis in Chinese population. 6
22545135 2012
19
Impairment of protein C secretion in protein C-deficient patients carrying an Asp297 mutation. 6
21744130 2011
20
Protein C mutation (A267T) results in ER retention and unfolded protein response activation. 6
21901152 2011
21
Functional characterization of the protein C A267T mutation: evidence for impaired secretion due to defective intracellular transport. 6
20815936 2010
22
Cerebral palsy in siblings caused by compound heterozygous mutations in the gene encoding protein C. 57
20187890 2010
23
Hereditary protein C deficiency caused by the Ala267Thr mutation in the protein C gene is associated with symptomatic and asymptomatic venous thrombosis. 6
19535131 2010
24
A homozygous protein C deficiency (Lys 192 del) who developed venous thrombosis for the first time at adulthood. 6
19822351 2010
25
Prevalence of genetic mutations in protein S, protein C and antithrombin genes in Japanese patients with deep vein thrombosis. 6
18954896 2009
26
Severe protein C deficiency from compound heterozygous mutations in the PROC gene in two Korean adult patients. 6
18573519 2008
27
Activated protein C. 6
17635713 2007
28
Identification and computationally-based structural interpretation of naturally occurring variants of human protein C. 6
17152060 2007
29
Multifunctional specificity of the protein C/activated protein C Gla domain. 6
16867987 2006
30
Protein S and protein C gene mutations in Japanese deep vein thrombosis patients. 6
15978566 2005
31
[Type I hereditary protein C deficiency due to C5498T mutation in protein C gene]. 6
14642106 2003
32
Symptomatic type 1 protein C deficiency caused by a de novo Ser270Leu mutation in the catalytic domain. 6
11380450 2001
33
En bloc heterotopic auxiliary liver and bilateral renal transplant in a patient with homozygous protein C deficiency. 57
11148525 2001
34
Studies on congenital protein C deficiency in Japanese: prevalence, genetic analysis, and relevance to the onset of arterial occlusive diseases. 6
10805275 2000
35
The propeptides of the vitamin K-dependent proteins possess different affinities for the vitamin K-dependent carboxylase. 6
10358041 1999
36
Genetic analysis of protein C deficiency in nineteen Japanese families: five recurrent defects can explain half of the deficiencies. 6
9840027 1998
37
Type I protein C deficiency in French Canadians: evidence of a founder effect and association of specific protein C gene mutations with plasma protein C levels. 6
9798967 1998
38
An unknown genetic defect increases venous thrombosis risk, through interaction with protein C deficiency. 6
9683579 1998
39
Type I protein C deficiency caused by disruption of a hepatocyte nuclear factor (HNF)-6/HNF-1 binding site in the human protein C gene promoter. 6
9553065 1998
40
Protein C Nagoya, an elongated mutant of protein C, is retained within the endoplasmic reticulum and is associated with GRP78 and GRP94. 6
8639775 1996
41
Recurrence of the PROC gene mutation R178Q: independent origins in Spanish protein C deficiency patients. 6
8807339 1996
42
Purpura fulminans in severe congenital protein C deficiency: monitoring of treatment with protein C concentrate. 57
8750805 1996
43
Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies. 6
7670104 1995
44
Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. 6
7482420 1995
45
Three novel mutations in the protein C (PROC) gene causing venous thrombosis. 6
7605880 1995
46
Six different point mutations in seven Danish families with symptomatic protein C deficiency. 6
7792728 1995
47
Protein C deficiency found in a patient with acute myocardial infarction: a single base mutation 157 Arg (CGA) to stop codon (TGA). 6
7894031 1994
48
Disruption of a binding site for hepatocyte nuclear factor 1 in the protein C gene promoter is associated with hereditary thrombophilia. 6
7881411 1994
49
Three missense mutations in the protein C heavy chain causing type I and type II protein C deficiency. 6
8165644 1994
50
Compound heterozygosity in a family with protein C deficiency illustrating the complexity of the underlying molecular mechanism. 6
8128429 1993

Variations for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

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

6 (show top 50) (show all 141)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PROC NM_000312.3(PROC):c.1042C>T (p.Arg348Ter) SNV Pathogenic 656 rs121918141 GRCh37: 2:128186178-128186178
GRCh38: 2:127428602-127428602
2 PROC NM_000312.3(PROC):c.1332G>C (p.Trp444Cys) SNV Pathogenic 657 rs121918142 GRCh37: 2:128186468-128186468
GRCh38: 2:127428892-127428892
3 PROC PROC, ARG12TRP Variation Pathogenic 658 GRCh37:
GRCh38:
4 PROC NM_000312.3(PROC):c.902C>T (p.Ala301Val) SNV Pathogenic 660 rs121918144 GRCh37: 2:128186038-128186038
GRCh38: 2:127428462-127428462
5 PROC NM_000312.3(PROC):c.629C>T (p.Pro210Leu) SNV Pathogenic 661 rs121918145 GRCh37: 2:128183754-128183754
GRCh38: 2:127426178-127426178
6 PROC NM_000312.3(PROC):c.1027G>A (p.Gly343Ser) SNV Pathogenic 663 rs121918147 GRCh37: 2:128186163-128186163
GRCh38: 2:127428587-127428587
7 PROC NM_000312.3(PROC):c.185A>C (p.Glu62Ala) SNV Pathogenic 664 rs121918148 GRCh37: 2:128178973-128178973
GRCh38: 2:127421397-127421397
8 PROC NM_000312.3(PROC):c.226G>A (p.Val76Met) SNV Pathogenic 665 rs121918149 GRCh37: 2:128179014-128179014
GRCh38: 2:127421438-127421438
9 PROC NM_000312.3(PROC):c.1000G>A (p.Gly334Ser) SNV Pathogenic 666 rs121918150 GRCh37: 2:128186136-128186136
GRCh38: 2:127428560-127428560
10 PROC NM_000312.3(PROC):c.866C>T (p.Pro289Leu) SNV Pathogenic 667 rs121918151 GRCh37: 2:128186002-128186002
GRCh38: 2:127428426-127428426
11 PROC NM_000312.3(PROC):c.658C>T (p.Arg220Trp) SNV Pathogenic 668 rs121918152 GRCh37: 2:128183783-128183783
GRCh38: 2:127426207-127426207
12 PROC NM_000312.3(PROC):c.659G>A (p.Arg220Gln) SNV Pathogenic 669 rs121918153 GRCh37: 2:128183784-128183784
GRCh38: 2:127426208-127426208
13 PROC PROC, 1-BP DEL, 8857G Deletion Pathogenic 670 GRCh37:
GRCh38:
14 PROC NM_000312.3(PROC):c.814C>T (p.Arg272Cys) SNV Pathogenic 671 rs121918154 GRCh37: 2:128185950-128185950
GRCh38: 2:127428374-127428374
15 PROC NM_000312.3(PROC):c.678+9C>T SNV Pathogenic 673 rs1053253907 GRCh37: 2:128183812-128183812
GRCh38: 2:127426236-127426236
16 PROC NM_000312.3(PROC):c.678G>C (p.Gln226His) SNV Pathogenic 674 rs121918155 GRCh37: 2:128183803-128183803
GRCh38: 2:127426227-127426227
17 PROC NM_000312.3(PROC):c.1335C>G (p.Ile445Met) SNV Pathogenic 676 rs121918157 GRCh37: 2:128186471-128186471
GRCh38: 2:127428895-127428895
18 PROC PROC, -14T-C SNV Pathogenic 678 GRCh37:
GRCh38:
19 PROC NM_000312.3(PROC):c.446A>C (p.His149Pro) SNV Pathogenic 679 rs121918159 GRCh37: 2:128180895-128180895
GRCh38: 2:127423319-127423319
20 PROC NM_000312.3(PROC):c.1201G>A (p.Asp401Asn) SNV Pathogenic 161334 rs142742242 GRCh37: 2:128186337-128186337
GRCh38: 2:127428761-127428761
21 PROC NM_000312.3(PROC):c.1000G>A (p.Gly334Ser) SNV Pathogenic 666 rs121918150 GRCh37: 2:128186136-128186136
GRCh38: 2:127428560-127428560
22 PROC NM_000312.3(PROC):c.340G>T (p.Gly114Cys) SNV Pathogenic 522437 rs374476971 GRCh37: 2:128180687-128180687
GRCh38: 2:127423111-127423111
23 PROC NM_000312.3(PROC):c.793C>T (p.Leu265Phe) SNV Pathogenic 675 rs121918156 GRCh37: 2:128184795-128184795
GRCh38: 2:127427219-127427219
24 PROC NM_000312.3(PROC):c.400+1G>A SNV Pathogenic 661205 rs1189377845 GRCh37: 2:128180748-128180748
GRCh38: 2:127423172-127423172
25 PROC NM_000312.3(PROC):c.1163C>T (p.Ala388Val) SNV Pathogenic 627215 rs769277939 GRCh37: 2:128186299-128186299
GRCh38: 2:127428723-127428723
26 PROC NM_000312.3(PROC):c.925G>A (p.Ala309Thr) SNV Pathogenic 662 rs121918146 GRCh37: 2:128186061-128186061
GRCh38: 2:127428485-127428485
27 PROC NM_000312.3(PROC):c.925G>A (p.Ala309Thr) SNV Pathogenic 662 rs121918146 GRCh37: 2:128186061-128186061
GRCh38: 2:127428485-127428485
28 PROC NM_000312.3(PROC):c.889G>C (p.Asp297His) SNV Pathogenic 663591 rs199469471 GRCh37: 2:128186025-128186025
GRCh38: 2:127428449-127428449
29 PROC NM_000312.3(PROC):c.631C>T (p.Arg211Trp) SNV Pathogenic 659 rs121918143 GRCh37: 2:128183756-128183756
GRCh38: 2:127426180-127426180
30 PROC NM_000312.4(PROC):c.41G>A (p.Trp14Ter) SNV Pathogenic 972257 GRCh37: 2:128177559-128177559
GRCh38: 2:127419983-127419983
31 PROC NM_000312.3(PROC):c.552_553insTT (p.Arg185fs) Insertion Pathogenic 672 rs1558715857 GRCh37: 2:128183677-128183678
GRCh38: 2:127426101-127426102
32 PROC NM_000312.3(PROC):c.1212dup (p.Pro405fs) Duplication Pathogenic 407370 rs1333329860 GRCh37: 2:128186342-128186343
GRCh38: 2:127428766-127428767
33 PROC NM_000312.4(PROC):c.321_325GCACG[3] (p.Cys111fs) Microsatellite Pathogenic 838069 GRCh37: 2:128180666-128180667
GRCh38: 2:127423090-127423091
34 PROC NM_000312.3(PROC):c.1015G>A (p.Val339Met) SNV Pathogenic 677 rs121918158 GRCh37: 2:128186151-128186151
GRCh38: 2:127428575-127428575
35 PROC NM_000312.3(PROC):c.169C>T (p.Arg57Trp) SNV Pathogenic 188230 rs757583846 GRCh37: 2:128178957-128178957
GRCh38: 2:127421381-127421381
36 PROC NM_000312.4(PROC):c.595C>T (p.Arg199Ter) SNV Pathogenic 839161 GRCh37: 2:128183720-128183720
GRCh38: 2:127426144-127426144
37 PROC NM_000312.4(PROC):c.400+2T>C SNV Pathogenic 1048662 GRCh37: 2:128180749-128180749
GRCh38: 2:127423173-127423173
38 PROC NM_000312.4(PROC):c.479G>C (p.Cys160Ser) SNV Pathogenic 1048663 GRCh37: 2:128180928-128180928
GRCh38: 2:127423352-127423352
39 PROC NM_000312.3(PROC):c.631C>T (p.Arg211Trp) SNV Pathogenic/Likely pathogenic 659 rs121918143 GRCh37: 2:128183756-128183756
GRCh38: 2:127426180-127426180
40 PROC NM_000312.3(PROC):c.811C>T (p.Arg271Trp) SNV Likely pathogenic 536970 rs767112991 GRCh37: 2:128185947-128185947
GRCh38: 2:127428371-127428371
41 PROC NM_000312.3(PROC):c.238-1G>A SNV Likely pathogenic 536971 rs1553423955 GRCh37: 2:128180492-128180492
GRCh38: 2:127422916-127422916
42 PROC NM_000312.4(PROC):c.752C>T (p.Ala251Val) SNV Likely pathogenic 810674 rs568121876 GRCh37: 2:128184754-128184754
GRCh38: 2:127427178-127427178
43 PROC NM_000312.3(PROC):c.199G>A (p.Glu67Lys) SNV Likely pathogenic 623191 rs1448630830 GRCh37: 2:128178987-128178987
GRCh38: 2:127421411-127421411
44 PROC NM_000312.3(PROC):c.1166G>C (p.Gly389Ala) SNV Likely pathogenic 623192 rs1305782685 GRCh37: 2:128186302-128186302
GRCh38: 2:127428726-127428726
45 PROC NM_000312.3(PROC):c.1242G>A (p.Trp414Ter) SNV Likely pathogenic 579043 rs1558718572 GRCh37: 2:128186378-128186378
GRCh38: 2:127428802-127428802
46 PROC NM_000312.4(PROC):c.632G>A (p.Arg211Gln) SNV Likely pathogenic 1048661 GRCh37: 2:128183757-128183757
GRCh38: 2:127426181-127426181
47 PROC NM_000312.4(PROC):c.862C>T (p.His288Tyr) SNV Likely pathogenic 972699 GRCh37: 2:128185998-128185998
GRCh38: 2:127428422-127428422
48 PROC NM_000312.3(PROC):c.352T>C (p.Phe118Leu) SNV Likely pathogenic 469122 rs1553424043 GRCh37: 2:128180699-128180699
GRCh38: 2:127423123-127423123
49 PROC NM_000312.3(PROC):c.935C>T (p.Ser312Leu) SNV Likely pathogenic 680 rs121918160 GRCh37: 2:128186071-128186071
GRCh38: 2:127428495-127428495
50 PROC NM_000312.3(PROC):c.125G>A (p.Arg42His) SNV Likely pathogenic 161333 rs369504169 GRCh37: 2:128178913-128178913
GRCh38: 2:127421337-127421337

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

72
# Symbol AA change Variation ID SNP ID
1 PROC p.Ala178Pro VAR_006660 rs125425794
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

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

Cellular components related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum lumen GO:0005788 8.62 PROC ALB

Biological processes related to Thrombophilia Due to Protein C Deficiency, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of apoptotic process GO:0043066 9.16 PROC ALB
2 post-translational protein modification GO:0043687 8.96 PROC ALB
3 cellular protein metabolic process GO:0044267 8.62 PROC ALB

Sources for Thrombophilia Due to Protein C Deficiency, Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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