FA2D
MCID: PRT129
MIFTS: 52

Prothrombin Deficiency, Congenital (FA2D)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Prothrombin Deficiency, Congenital

MalaCards integrated aliases for Prothrombin Deficiency, Congenital:

Name: Prothrombin Deficiency, Congenital 57 29 6
Dysprothrombinemia 57 75 59 74 13 55
Hypoprothrombinemia 57 75 59 74
Prothrombin Deficiency 59 74
Factor Ii Deficiency 74 72
Hereditary Factor Ii Deficiency Disease 72
Congenital Prothrombin Deficiency 37
Congenital Factor Ii Deficiency 59
Inherited Factor Ii Deficiency 72
Hypoprothrombinemias 55
Fa2d 74

Characteristics:

Orphanet epidemiological data:

59
congenital factor ii deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
onset at birth
prevalence of true hypoprothrombinemia is 1 in 2 million
bleeding after trauma or surgery
some heterozygous carriers may have mild manifestations


HPO:

32
prothrombin deficiency, congenital:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:



External Ids:

OMIM 57 613679
KEGG 37 H01254
MeSH 44 D007020
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 73 C0020640 C0272317 C3203356
Orphanet 59 ORPHA325
UMLS 72 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency, Congenital

OMIM : 57 Prothrombin deficiency is an extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin; it affects about 1 in 2,000,000 individuals. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. These patients have severe bleeding from birth, including umbilical cord hemorrhage, hematomas, ecchymoses, hematuria, mucosal bleeding, hemarthroses, intracranial bleeding, gastrointestinal bleeding, and menorrhagia. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein. Bleeding symptoms are more variable, depending on the amount of residual functional activity. Variant prothrombin gene alleles can result in 'hypoprothrombinemia' or 'dysprothrombinemia,' and individuals who are compound heterozygous for these 2 types of alleles have variable manifestations. Heterozygous mutation carriers, who have plasma levels between 40 and 60% of normal, are usually asymptomatic, but can show bleeding after tooth extraction or surgical procedures (review by Lancellotti and De Cristofaro, 2009). (613679)

MalaCards based summary : Prothrombin Deficiency, Congenital, also known as dysprothrombinemia, is related to factor vii deficiency and afibrinogenemia, congenital. An important gene associated with Prothrombin Deficiency, Congenital is F2 (Coagulation Factor II, Thrombin), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. The drugs Warfarin and Liver Extracts have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are prolonged partial thromboplastin time and prolonged prothrombin time

KEGG : 37
Prothrombin (factor II) deficiency is an autosomal recessive disorder associated with moderate or severe bleeding tendency. It occurs in approximately 1 in 1-2 million people. Prothrombin is activated to thrombin, which in turn proteolytically cleaves fibrinogen to fibrin and contributes to forming a stable fibrin clot.

UniProtKB/Swiss-Prot : 74 Factor II deficiency: A very rare blood coagulation disorder characterized by mucocutaneous bleeding symptoms. The severity of the bleeding manifestations correlates with blood factor II levels.

Wikipedia : 75 Thrombin (EC 3.4.21.5, fibrinogenase, thrombase, thrombofort, topical, thrombin-C, tropostasin,... more...

Related Diseases for Prothrombin Deficiency, Congenital

Diseases related to Prothrombin Deficiency, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 191)
# Related Disease Score Top Affiliating Genes
1 factor vii deficiency 30.4 F2 F10
2 afibrinogenemia, congenital 29.8 SERPINC1 F2
3 infective endocarditis 29.8 F2 APOH
4 purpura 29.8 SERPINC1 F2 APOH
5 factor viii deficiency 29.7 F5 F2
6 acquired hemophilia 29.7 F5 F10
7 dysfibrinogenemia 29.5 SERPINC1 F5 F2
8 hemophilia b 29.5 SERPINC1 F2 F10
9 hemophilia a 29.5 F5 F10
10 catastrophic antiphospholipid syndrome 29.5 F5 APOH
11 thrombasthenia 29.3 F5 F2
12 endocarditis 29.3 SERPINC1 F2 APOH
13 afibrinogenemia 29.1 F5 F2 F10
14 factor v deficiency 29.1 F5 F2 F10
15 factor xii deficiency 28.9 SERPINC1 F5 APOH
16 placenta disease 28.8 SERPINC1 F5 APOH
17 hemorrhagic disease 28.8 SERPINC1 F5 F2 F10
18 antiphospholipid syndrome 28.1 SERPINC1 F5 F2 F10 APOH
19 thrombophilia due to thrombin defect 27.8 SERPINC1 F5 F2 F10 APOH
20 thrombosis 27.8 SERPINC1 F5 F2 F10 APOH
21 pulmonary embolism 27.5 SERPINC1 F5 F2 F10 APOH
22 acquired prothrombin deficiency 11.7
23 lupus erythematosus 10.7
24 systemic lupus erythematosus 10.4
25 vitamin k deficiency bleeding 10.4
26 thrombocytopenia 10.3
27 eclampsia 10.3 SERPINC1 F2
28 liver cirrhosis 10.2
29 fournier gangrene 10.2 SERPINC1 F2
30 intestinal impaction 10.2 SERPINC1 F2
31 giant hemangioma 10.2 SERPINC1 F2
32 intracranial embolism 10.2 SERPINC1 F2
33 alpha-2-plasmin inhibitor deficiency 10.2 SERPINC1 F2
34 hemophilia 10.2
35 blue toe syndrome 10.2 SERPINC1 F2
36 subendocardial myocardial infarction 10.2 SERPINC1 F2
37 marantic endocarditis 10.2 SERPINC1 F2
38 heparin-induced thrombocytopenia 10.2 SERPINC1 F10
39 korean hemorrhagic fever 10.2 SERPINC1 F2
40 esophageal varix 10.2 SERPINC1 F2
41 purpura fulminans 10.2 SERPINC1 F2
42 anterior spinal artery syndrome 10.1 SERPINC1 F2
43 autoimmune disease 10.1
44 graves disease 1 10.1
45 liver disease 10.1
46 hyperthyroidism 10.1
47 hypersplenism 10.1 SERPINC1 F2
48 inherited blood coagulation disease 10.1 SERPINC1 F2
49 hepatic vascular disease 10.1 SERPINC1 F2
50 factor xi deficiency 10.1 SERPINC1 F2

Graphical network of the top 20 diseases related to Prothrombin Deficiency, Congenital:



Diseases related to Prothrombin Deficiency, Congenital

Symptoms & Phenotypes for Prothrombin Deficiency, Congenital

Human phenotypes related to Prothrombin Deficiency, Congenital:

59 32 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged partial thromboplastin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0003645
2 prolonged prothrombin time 59 32 hallmark (90%) Very frequent (99-80%) HP:0008151
3 reduced prothrombin antigen 59 32 hallmark (90%) Very frequent (99-80%) HP:0040250
4 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
5 intracranial hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0002170
6 joint hemorrhage 59 32 frequent (33%) Frequent (79-30%) HP:0005261
7 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
8 menorrhagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000132
9 prolonged bleeding after dental extraction 59 32 occasional (7.5%) Occasional (29-5%) HP:0006298
10 post-partum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011891
11 microscopic hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0002907
12 abnormal umbilical stump bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0011884
13 intramuscular hematoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012233
14 cephalohematoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012541
15 prolonged bleeding following circumcision 59 32 occasional (7.5%) Occasional (29-5%) HP:0030137
16 excessive bleeding from superficial cuts 59 32 occasional (7.5%) Occasional (29-5%) HP:0030138
17 oral cavity bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0030140
18 abnormal bleeding 59 Frequent (79-30%)
19 gingival bleeding 32 HP:0000225
20 gastrointestinal hemorrhage 32 HP:0002239
21 venous thrombosis 59 Excluded (0%)
22 bruising susceptibility 32 HP:0000978
23 prolonged bleeding time 32 HP:0003010
24 arterial thrombosis 59 Excluded (0%)
25 prolonged bleeding following procedure 59 Occasional (29-5%)
26 reduced prothrombin activity 59 Very frequent (99-80%)
27 ecchymosis 32 HP:0031364

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Mouth:
gingival bleeding

Hematology:
prolonged bleeding time
prolonged prothrombin time
bleeding tendency due to defect in prothrombin and inability to form fibrin clot
prolonged activated partial thromboplastin time
decreased f2 antigen levels (in some patients)
more
Skin Nails Hair Skin:
ecchymosis
easy bruising

Muscle Soft Tissue:
hematomas
umbilical cord hemorrhage

Neurologic Central Nervous System:
intracranial bleeding

Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
gastrointestinal bleeding

Skeletal:
hemarthroses

Clinical features from OMIM:

613679

MGI Mouse Phenotypes related to Prothrombin Deficiency, Congenital:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.35 APOH F10 F2 F5 SERPINC1
2 mortality/aging MP:0010768 9.02 APOH F10 F2 F5 SERPINC1

Drugs & Therapeutics for Prothrombin Deficiency, Congenital

Drugs for Prothrombin Deficiency, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Warfarin Approved Phase 1, Phase 2 81-81-2 6691 54678486
2 Liver Extracts Phase 2
3 Anticoagulants Phase 1, Phase 2
4 Anti-Infective Agents
5 Antibiotics, Antitubercular
6 Anti-Bacterial Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase II, Double-blinded, Randomized, Controlled Study to Evaluate the Efficacy and Safety of Vitalliver in Patients With Decompensated Cirrhosis Completed NCT00562783 Phase 2 Vitaliver;Placebo
2 A Single-site, Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Patients With Unstable Warfarin Effect. Terminated NCT02267408 Phase 1, Phase 2
3 Antibiotic-associated Coagulopathy Unknown status NCT02172833
4 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Not yet recruiting NCT03273998

Search NIH Clinical Center for Prothrombin Deficiency, Congenital

Inferred drug relations via UMLS 72 / NDF-RT 51 :


menadiol
Menadiol sodium phosphate
nonacog alfa
Phylloquinone
Vitamin K 1
Vitamin K 3

Genetic Tests for Prothrombin Deficiency, Congenital

Genetic tests related to Prothrombin Deficiency, Congenital:

# Genetic test Affiliating Genes
1 Prothrombin Deficiency, Congenital 29 F2

Anatomical Context for Prothrombin Deficiency, Congenital

MalaCards organs/tissues related to Prothrombin Deficiency, Congenital:

41
Liver, Kidney

Publications for Prothrombin Deficiency, Congenital

Articles related to Prothrombin Deficiency, Congenital:

(show top 50) (show all 103)
# Title Authors PMID Year
1
Congenital prothrombin deficiency. 9 38 8 71
19598065 2009
2
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. 9 38 8 71
11154146 2000
3
Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. 9 8 71
7740448 1994
4
Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia. 38 8 71
1349838 1992
5
Congenital dysprothrombinemia. 38 8 71
6085205 1984
6
Prothrombin Quick. A newly identified dysprothrombinemia. 38 8 71
625142 1978
7
The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions. 8 71
10651742 2000
8
Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His). 8 71
1421398 1992
9
Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin. 8 71
3801671 1987
10
Activation of prothrombin Barcelona. Evidence for active high molecular weight intermediates. 8 71
444582 1979
11
Hereditary hypoprothrombinaemias. 8 71
14489469 1962
12
Congenital idiopathic hypoprothrombinemia. 8 71
13228032 1954
13
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 9 38 8
19141155 2008
14
Congenital deficiencies and abnormalities of prothrombin. 9 38 8
9863703 1998
15
Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. 9 38 8
1334372 1992
16
[Hereditary dysprothrombinemia with a mild bleeding tendency (prothrombin Magdeburg)]. 38 8
2920673 1989
17
Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima. 38 71
3567158 1987
18
Prothrombin Segovia: a new congenital abnormality of prothrombin. 38 8
3090681 1986
19
A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia. 38 8
7152370 1982
20
Prothrombin Gainesville. A dysprothrombinemia in a pair of identical twins. 38 8
7198379 1981
21
Prothrombin padua: a "new" congenital dysprothrombinemia. 38 8
4283787 1974
22
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin. 38 8
5355338 1969
23
The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 71
20027064 2010
24
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. 8
19531787 2009
25
Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin. 71
16487178 2006
26
Molecular and functional characterization of a natural homozygous Arg67His mutation in the prothrombin gene of a patient with a severe procoagulant defect contrasting with a mild hemorrhagic phenotype. 71
12149217 2002
27
Partial characterization of vertebrate prothrombin cDNAs: amplification and sequence analysis of the B chain of thrombin from nine different species. 71
1557383 1992
28
Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity. 71
2719946 1989
29
Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382. 71
3242619 1988
30
Prothrombin Poissy: a new variant of human prothrombin. 8
3606959 1987
31
Prothrombin "Mexico City," an asymptomatic autosomal dominant prothrombin variant. 8
3826054 1987
32
Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. 71
3771562 1986
33
Thrombin Metz: characterization of the dysfunctional thrombin derived from a variant of human prothrombin. 8
6546700 1984
34
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. 8
6409139 1983
35
Genetic heterogeneity of prothrombin (FII). 8
7103409 1982
36
Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation. 8
7362870 1980
37
The hereditary transmission of congenital 'true' hypoprothrombinaemia. 8
5132950 1971
38
Congenital abnormality of the prothrombin molecule (factor II) in four siblings: prothrombin Barcelona. 8
4997605 1971
39
Hereditary prothrombin deficiency. 8
4982446 1970
40
Amino acid composition of human plasma prothrombin. 8
5752075 1968
41
Severe congenital hypoprothrombinemia in a Negro boy. 8
13972173 1962
42
[Study of a case of congenital hypoprothrombinemia]. 8
14042011 1962
43
Congenital hypoprothrombinemic states. 71
13217497 1955
44
A recombinant murine meizothrombin precursor, prothrombin R157A/R268A, inhibits thrombosis in a model of acute carotid artery injury. 9 38
15039280 2004
45
A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population. 9 38
14629473 2003
46
Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia. 9 38
11341500 2001
47
Prothrombin San Antonio: a single amino acid substitution at a factor Xa activation site (Arg320 to His) results in dysprothrombinemia. 9 38
10627484 2000
48
Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia. 9 38
9490687 1998
49
Molecular analysis of a compound heterozygote for hypoprothrombinemia and dysprothrombinemia (-G 7248/7249 and ARG 340 TRP). 9 38
9351523 1997
50
Genetic analysis and functional characterization of prothrombins Corpus Christi (Arg382-Cys), Dhahran (Arg271-His), and hypoprothrombinemia. 9 38
8839854 1996

Variations for Prothrombin Deficiency, Congenital

ClinVar genetic disease variations for Prothrombin Deficiency, Congenital:

6 (show all 36)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F2 NM_000506.3(F2): c.940C> T (p.Arg314Cys) single nucleotide variant Pathogenic rs121918477 11:46748113-46748113 11:46726563-46726563
2 F2 NM_000506.3(F2): c.1381C> T (p.Arg461Trp) single nucleotide variant Pathogenic rs121918478 11:46750296-46750296 11:46728746-46728746
3 F2 NM_000506.3(F2): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121918479 11:46749688-46749688 11:46728138-46728138
4 F2 NM_000506.3(F2): c.1802G> T (p.Gly601Val) single nucleotide variant Pathogenic rs121918480 11:46760891-46760891 11:46739341-46739341
5 F2 NM_000506.3(F2): c.1139T> C (p.Met380Thr) single nucleotide variant Pathogenic rs121918481 11:46749554-46749554 11:46728004-46728004
6 F2 NM_000506.4(F2): c.462_463insT (p.Asn155Ter) insertion Pathogenic rs387906522 11:46744971-46744972 11:46723421-46723422
7 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 11:46761055-46761055 11:46739505-46739505
8 F2 NM_000506.3(F2): c.1027G> A (p.Glu343Lys) single nucleotide variant Pathogenic rs121918483 11:46748284-46748284 11:46726734-46726734
9 F2 NM_000506.3(F2): c.1054G> A (p.Glu352Lys) single nucleotide variant Pathogenic rs121918484 11:46748311-46748311 11:46726761-46726761
10 F2 NM_000506.4(F2): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121918485 11:46749689-46749689 11:46728139-46728139
11 F2 NM_000506.3(F2): c.1785C> G (p.Asp595Glu) single nucleotide variant Pathogenic rs121918486 11:46760874-46760874 11:46739324-46739324
12 F2 F2, TYR44CYS single nucleotide variant Pathogenic
13 F2 NM_000506.4(F2): c.1233G> A (p.Pro411=) single nucleotide variant Conflicting interpretations of pathogenicity rs5898 11:46749648-46749648 11:46728098-46728098
14 F2 NM_000506.4(F2): c.1602G> A (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs5900 11:46751059-46751059 11:46729509-46729509
15 F2 NM_000506.4(F2): c.45G> A (p.Leu15=) single nucleotide variant Uncertain significance rs886048333 11:46740830-46740830 11:46719280-46719280
16 F2 NM_000506.4(F2): c.79+7G> A single nucleotide variant Uncertain significance rs3136431 11:46740871-46740871 11:46719321-46719321
17 F2 NM_000506.4(F2): c.317-4G> A single nucleotide variant Uncertain significance rs375713715 11:46744726-46744726 11:46723176-46723176
18 F2 NM_000506.4(F2): c.813C> T (p.Gly271=) single nucleotide variant Uncertain significance rs5899 11:46747662-46747662 11:46726112-46726112
19 F2 NM_000506.4(F2): c.882C> T (p.Ala294=) single nucleotide variant Uncertain significance rs370819135 11:46748055-46748055 11:46726505-46726505
20 F2 NM_000506.4(F2): c.1628G> T (p.Arg543Leu) single nucleotide variant Uncertain significance rs143064939 11:46751085-46751085 11:46729535-46729535
21 F2 NM_000506.4(F2): c.730G> T (p.Ala244Ser) single nucleotide variant Uncertain significance rs886048334 11:46747579-46747579 11:46726029-46726029
22 F2 NM_000506.4(F2): c.915G> A (p.Glu305=) single nucleotide variant Uncertain significance rs886048335 11:46748088-46748088 11:46726538-46726538
23 F2 NM_000506.4(F2): c.978G> A (p.Pro326=) single nucleotide variant Uncertain significance rs142949009 11:46748151-46748151 11:46726601-46726601
24 F2 NM_000506.4(F2): c.1541A> G (p.Asn514Ser) single nucleotide variant Uncertain significance rs144011338 11:46750998-46750998 11:46729448-46729448
25 F2 NM_000506.4(F2): c.1621C> A (p.Arg541=) single nucleotide variant Uncertain significance rs886048338 11:46751078-46751078 11:46729528-46729528
26 F2 NM_000506.4(F2): c.1815T> C (p.His605=) single nucleotide variant Uncertain significance rs368442575 11:46760904-46760904 11:46739354-46739354
27 F2 NM_000506.4(F2): c.559+5G> A single nucleotide variant Uncertain significance rs376151472 11:46745073-46745073 11:46723523-46723523
28 F2 NM_000506.4(F2): c.992C> T (p.Ser331Leu) single nucleotide variant Uncertain significance rs200812621 11:46748165-46748165 11:46726615-46726615
29 F2 NM_000506.4(F2): c.*44G> T single nucleotide variant Uncertain significance rs759287343 11:46761002-46761002 11:46739452-46739452
30 F2 NM_000506.4(F2): c.798C> T (p.Asp266=) single nucleotide variant Uncertain significance rs138260543 11:46747647-46747647 11:46726097-46726097
31 F2 NM_000506.4(F2): c.1464G> A (p.Thr488=) single nucleotide variant Uncertain significance rs146742525 11:46750379-46750379 11:46728829-46728829
32 F2 NM_000506.4(F2): c.1472+9C> T single nucleotide variant Uncertain significance rs886048336 11:46750396-46750396 11:46728846-46728846
33 F2 NM_000506.4(F2): c.1567C> T (p.Leu523=) single nucleotide variant Uncertain significance rs886048337 11:46751024-46751024 11:46729474-46729474
34 F2 NM_000506.4(F2): c.423-7G> C single nucleotide variant Benign/Likely benign rs2070852 11:46744925-46744925 11:46723375-46723375
35 F2 NM_000506.4(F2): c.480C> T (p.Pro160=) single nucleotide variant Benign/Likely benign rs3136452 11:46744989-46744989 11:46723439-46723439
36 F2 NM_000506.4(F2): c.494C> T (p.Thr165Met) single nucleotide variant Benign/Likely benign rs5896 11:46745003-46745003 11:46723453-46723453

UniProtKB/Swiss-Prot genetic disease variations for Prothrombin Deficiency, Congenital:

74
# Symbol AA change Variation ID SNP ID
1 F2 p.Glu200Lys VAR_006711 rs62623459
2 F2 p.Arg314Cys VAR_006712 rs121918477
3 F2 p.Arg314His VAR_006713 rs754231232
4 F2 p.Met380Thr VAR_006714 rs121918481
5 F2 p.Arg425Cys VAR_006715 rs121918479
6 F2 p.Arg431His VAR_006716 rs121918482
7 F2 p.Arg461Trp VAR_006717 rs121918478
8 F2 p.Glu509Ala VAR_006718
9 F2 p.Gly601Val VAR_006719 rs121918480
10 F2 p.Glu72Gly VAR_055232

Expression for Prothrombin Deficiency, Congenital

Search GEO for disease gene expression data for Prothrombin Deficiency, Congenital.

Pathways for Prothrombin Deficiency, Congenital

Pathways related to Prothrombin Deficiency, Congenital according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Prothrombin Deficiency, Congenital according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.63 SERPINC1 F5 F2 F10 APOH
2
Show member pathways
12.28 SERPINC1 F5 F2 F10
3
Show member pathways
11.46 SERPINC1 F5 F2 F10
4
Show member pathways
11.4 F2 F10
5 11.07 SERPINC1 F5 F2 F10
6 10.5 F2 F10

GO Terms for Prothrombin Deficiency, Congenital

Cellular components related to Prothrombin Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.55 SERPINC1 F5 F2 F10 APOH
2 extracellular space GO:0005615 9.35 SERPINC1 F5 F2 F10 APOH
3 Golgi lumen GO:0005796 9.26 F2 F10
4 endoplasmic reticulum lumen GO:0005788 8.92 SERPINC1 F5 F2 F10

Biological processes related to Prothrombin Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.61 SERPINC1 F5 F2
2 ER to Golgi vesicle-mediated transport GO:0006888 9.58 F5 F2 F10
3 platelet degranulation GO:0002576 9.46 F5 APOH
4 blood coagulation GO:0007596 9.46 SERPINC1 F5 F2 F10
5 blood coagulation, intrinsic pathway GO:0007597 9.37 F2 APOH
6 positive regulation of blood coagulation GO:0030194 9.32 F2 APOH
7 negative regulation of fibrinolysis GO:0051918 9.26 F2 APOH
8 regulation of blood coagulation GO:0030193 9.13 SERPINC1 F2 APOH
9 hemostasis GO:0007599 8.92 SERPINC1 F5 F2 F10

Molecular functions related to Prothrombin Deficiency, Congenital according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phospholipid binding GO:0005543 8.96 F10 APOH
2 heparin binding GO:0008201 8.8 SERPINC1 F2 APOH

Sources for Prothrombin Deficiency, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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38 LifeMap
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62 PubMed
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69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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