FA2D
MCID: PRT129
MIFTS: 50

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 56 29 6
Dysprothrombinemia 56 74 58 73 13 54
Hypoprothrombinemia 56 74 58 73
Prothrombin Deficiency 58 73
Factor Ii Deficiency 73 71
Hypoprothrombinemias 54 43
Hereditary Factor Ii Deficiency Disease 71
Congenital Prothrombin Deficiency 36
Congenital Factor Ii Deficiency 58
Inherited Factor Ii Deficiency 71
Fa2d 73

Characteristics:

Orphanet epidemiological data:

58
congenital factor ii deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: All ages; Age of death: any age;

OMIM:

56
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:

31
prothrombin deficiency, congenital:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity congenital onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

OMIM 56 613679
KEGG 36 H01254
MeSH 43 D007020
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 72 C0020640 C0272317 C3203356
Orphanet 58 ORPHA325
UMLS 71 C0020640 C0272317 C3203356

Summaries for Prothrombin Deficiency, Congenital

OMIM : 56 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 vitamin k deficiency bleeding and factor vii deficiency. 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 prothrombin time and prolonged partial thromboplastin time

KEGG : 36 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 : 73 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 : 74 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 225)
# Related Disease Score Top Affiliating Genes
1 vitamin k deficiency bleeding 30.6 SERPINC1 F2
2 factor vii deficiency 30.0 SERPINC1 F2 F10
3 hemarthrosis 29.9 F2 F10
4 purpura 29.8 SERPINC1 F2 APOH
5 infective endocarditis 29.7 F2 APOH
6 acquired hemophilia 29.6 F5 F10
7 catastrophic antiphospholipid syndrome 29.5 F5 APOH
8 hemophilia b 29.4 SERPINC1 F2 F10
9 thrombasthenia 29.4 F5 F2
10 endocarditis 29.4 SERPINC1 F2 APOH
11 factor v deficiency 29.1 F5 F2 F10
12 factor xii deficiency 28.9 SERPINC1 F5 APOH
13 hemorrhagic disease 28.9 SERPINC1 F5 F2 F10
14 prothrombin deficiency 28.8 SERPINC1 F2 F10 APOH
15 afibrinogenemia, congenital 28.6 SERPINC1 F5 F2 F10
16 disseminated intravascular coagulation 28.6 SERPINC1 F5 F2 F10
17 antiphospholipid syndrome 28.5 SERPINC1 F5 F2 F10 APOH
18 placenta disease 28.4 SERPINC1 F5 F2 APOH
19 thrombocytopenia 28.4 SERPINC1 F5 F2 F10 APOH
20 thrombosis 28.1 SERPINC1 F5 F2 F10 APOH
21 thrombophilia due to thrombin defect 28.1 SERPINC1 F5 F2 F10 APOH
22 pulmonary embolism 27.9 SERPINC1 F5 F2 F10 APOH
23 acquired prothrombin deficiency 11.8
24 lupus erythematosus 10.7
25 systemic lupus erythematosus 10.4
26 liver cirrhosis 10.3
27 hemophilia 10.2
28 autoimmune disease 10.1
29 graves disease 1 10.1
30 liver disease 10.1
31 hyperthyroidism 10.1
32 fournier gangrene 10.1 SERPINC1 F2
33 blue toe syndrome 10.1 SERPINC1 F2
34 lateral sinus thrombosis 10.1 SERPINC1 F2
35 giant hemangioma 10.1 SERPINC1 F2
36 dic in newborn 10.1 SERPINC1 F2
37 waterhouse-friderichsen syndrome 10.1 SERPINC1 F2
38 cavernous sinus thrombosis 10.1 SERPINC1 F2
39 lemierre's syndrome 10.1 SERPINC1 F2
40 intracranial sinus thrombosis 10.1 SERPINC1 F2
41 thoracic outlet syndrome 10.1 SERPINC1 F2
42 cholesterol embolism 10.1 SERPINC1 F2
43 abducens nerve disease 10.1 SERPINC1 F2
44 branch retinal artery occlusion 10.1 SERPINC1 F2
45 intracranial embolism 10.1 SERPINC1 F2
46 mastoiditis 10.1 SERPINC1 F2
47 hepatic coma 10.1 SERPINC1 F2
48 central retinal artery occlusion 10.1 SERPINC1 F2
49 alpha-2-plasmin inhibitor deficiency 10.1 SERPINC1 F2
50 heparin-induced thrombocytopenia 10.1 SERPINC1 F10

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:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged prothrombin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0008151
2 prolonged partial thromboplastin time 58 31 hallmark (90%) Very frequent (99-80%) HP:0003645
3 reduced prothrombin antigen 58 31 hallmark (90%) Very frequent (99-80%) HP:0040250
4 epistaxis 58 31 frequent (33%) Frequent (79-30%) HP:0000421
5 intracranial hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0002170
6 joint hemorrhage 58 31 frequent (33%) Frequent (79-30%) HP:0005261
7 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
8 microscopic hematuria 58 31 occasional (7.5%) Occasional (29-5%) HP:0002907
9 menorrhagia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000132
10 post-partum hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0011891
11 oral cavity bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0030140
12 intramuscular hematoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012233
13 abnormal umbilical stump bleeding 58 31 occasional (7.5%) Occasional (29-5%) HP:0011884
14 prolonged bleeding after dental extraction 58 31 occasional (7.5%) Occasional (29-5%) HP:0006298
15 cephalohematoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0012541
16 prolonged bleeding following circumcision 58 31 occasional (7.5%) Occasional (29-5%) HP:0030137
17 excessive bleeding from superficial cuts 58 31 occasional (7.5%) Occasional (29-5%) HP:0030138
18 gingival bleeding 31 HP:0000225
19 gastrointestinal hemorrhage 31 HP:0002239
20 venous thrombosis 58 Excluded (0%)
21 bruising susceptibility 31 HP:0000978
22 prolonged bleeding time 31 HP:0003010
23 arterial thrombosis 58 Excluded (0%)
24 abnormal bleeding 58 Frequent (79-30%)
25 reduced prothrombin activity 58 Very frequent (99-80%)
26 ecchymosis 31 HP:0031364
27 prolonged bleeding following procedure 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Prothrombin Deficiency, Congenital

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


# 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-Bacterial Agents
5 Antibiotics, Antitubercular

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) Unknown status NCT03273998

Search NIH Clinical Center for Prothrombin Deficiency, Congenital

Inferred drug relations via UMLS 71 / NDF-RT 50 :


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

Cochrane evidence based reviews: hypoprothrombinemias

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:

40
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. 54 56 6 61
19598065 2009
2
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. 61 54 56 6
11154146 2000
3
Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. 54 56 6
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. 56 6 61
1349838 1992
5
Congenital dysprothrombinemia. 6 56 61
6085205 1984
6
Prothrombin Quick. A newly identified dysprothrombinemia. 61 6 56
625142 1978
7
The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions. 6 56
10651742 2000
8
Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His). 56 6
1421398 1992
9
Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin. 56 6
3801671 1987
10
Activation of prothrombin Barcelona. Evidence for active high molecular weight intermediates. 6 56
444582 1979
11
Hereditary hypoprothrombinaemias. 56 6
14489469 1962
12
Congenital idiopathic hypoprothrombinemia. 6 56
13228032 1954
13
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 56 54 61
19141155 2008
14
Congenital deficiencies and abnormalities of prothrombin. 61 54 56
9863703 1998
15
Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. 56 54 61
1334372 1992
16
[Hereditary dysprothrombinemia with a mild bleeding tendency (prothrombin Magdeburg)]. 56 61
2920673 1989
17
Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima. 6 61
3567158 1987
18
Prothrombin Segovia: a new congenital abnormality of prothrombin. 61 56
3090681 1986
19
A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia. 61 56
7152370 1982
20
Prothrombin Gainesville. A dysprothrombinemia in a pair of identical twins. 61 56
7198379 1981
21
Prothrombin padua: a "new" congenital dysprothrombinemia. 56 61
4283787 1974
22
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin. 56 61
5355338 1969
23
The management of depression during pregnancy: a report from the American Psychiatric Association and the American College of Obstetricians and Gynecologists. 6
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. 56
19531787 2009
25
Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin. 6
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. 6
12149217 2002
27
Partial characterization of vertebrate prothrombin cDNAs: amplification and sequence analysis of the B chain of thrombin from nine different species. 6
1557383 1992
28
Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity. 6
2719946 1989
29
Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382. 6
3242619 1988
30
Prothrombin Poissy: a new variant of human prothrombin. 56
3606959 1987
31
Prothrombin "Mexico City," an asymptomatic autosomal dominant prothrombin variant. 56
3826054 1987
32
Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. 6
3771562 1986
33
Thrombin Metz: characterization of the dysfunctional thrombin derived from a variant of human prothrombin. 56
6546700 1984
34
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. 56
6409139 1983
35
Genetic heterogeneity of prothrombin (FII). 56
7103409 1982
36
Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation. 56
7362870 1980
37
The hereditary transmission of congenital 'true' hypoprothrombinaemia. 56
5132950 1971
38
Congenital abnormality of the prothrombin molecule (factor II) in four siblings: prothrombin Barcelona. 56
4997605 1971
39
Hereditary prothrombin deficiency. 56
4982446 1970
40
Amino acid composition of human plasma prothrombin. 56
5752075 1968
41
Severe congenital hypoprothrombinemia in a Negro boy. 56
13972173 1962
42
[Study of a case of congenital hypoprothrombinemia]. 56
14042011 1962
43
Congenital hypoprothrombinemic states. 6
13217497 1955
44
A recombinant murine meizothrombin precursor, prothrombin R157A/R268A, inhibits thrombosis in a model of acute carotid artery injury. 61 54
15039280 2004
45
A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population. 61 54
14629473 2003
46
Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia. 61 54
11341500 2001
47
Prothrombin San Antonio: a single amino acid substitution at a factor Xa activation site (Arg320 to His) results in dysprothrombinemia. 54 61
10627484 2000
48
Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia. 54 61
9490687 1998
49
Molecular analysis of a compound heterozygote for hypoprothrombinemia and dysprothrombinemia (-G 7248/7249 and ARG 340 TRP). 54 61
9351523 1997
50
Genetic analysis and functional characterization of prothrombins Corpus Christi (Arg382-Cys), Dhahran (Arg271-His), and hypoprothrombinemia. 61 54
8839854 1996

Variations for Prothrombin Deficiency, Congenital

ClinVar genetic disease variations for Prothrombin Deficiency, Congenital:

6 (show top 50) (show all 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 F2 NM_000506.3(F2):c.940C>T (p.Arg314Cys)SNV Pathogenic 13303 rs121918477 11:46748113-46748113 11:46726563-46726563
2 F2 NM_000506.3(F2):c.1381C>T (p.Arg461Trp)SNV Pathogenic 13304 rs121918478 11:46750296-46750296 11:46728746-46728746
3 F2 NM_000506.3(F2):c.1273C>T (p.Arg425Cys)SNV Pathogenic 13305 rs121918479 11:46749688-46749688 11:46728138-46728138
4 F2 NM_000506.3(F2):c.1802G>T (p.Gly601Val)SNV Pathogenic 13306 rs121918480 11:46760891-46760891 11:46739341-46739341
5 F2 NM_000506.3(F2):c.1139T>C (p.Met380Thr)SNV Pathogenic 13307 rs121918481 11:46749554-46749554 11:46728004-46728004
6 F2 NM_000506.4(F2):c.462_463insT (p.Asn155Ter)insertion Pathogenic 13309 rs387906522 11:46744971-46744972 11:46723421-46723422
7 F2 NM_000506.3(F2):c.1027G>A (p.Glu343Lys)SNV Pathogenic 13311 rs121918483 11:46748284-46748284 11:46726734-46726734
8 F2 NM_000506.3(F2):c.1054G>A (p.Glu352Lys)SNV Pathogenic 13312 rs121918484 11:46748311-46748311 11:46726761-46726761
9 F2 NM_000506.4(F2):c.1274G>A (p.Arg425His)SNV Pathogenic 13313 rs121918485 11:46749689-46749689 11:46728139-46728139
10 F2 NM_000506.3(F2):c.1785C>G (p.Asp595Glu)SNV Pathogenic 13314 rs121918486 11:46760874-46760874 11:46739324-46739324
11 F2 F2, TYR44CYSSNV Pathogenic 29851
12 F2 NM_000506.5(F2):c.*97G>ASNV risk factor 13310 rs1799963 11:46761055-46761055 11:46739505-46739505
13 F2 NM_000506.5(F2):c.843C>T (p.Gly281=)SNV Conflicting interpretations of pathogenicity 708725 11:46747692-46747692 11:46726142-46726142
14 F2 NM_000506.5(F2):c.1298+11G>CSNV Conflicting interpretations of pathogenicity 879371 11:46749724-46749724 11:46728174-46728174
15 F2 NM_000506.5(F2):c.495G>A (p.Thr165=)SNV Conflicting interpretations of pathogenicity 756801 11:46745004-46745004 11:46723454-46723454
16 F2 NM_000506.4(F2):c.1602G>A (p.Pro534=)SNV Conflicting interpretations of pathogenicity 256313 rs5900 11:46751059-46751059 11:46729509-46729509
17 F2 NM_000506.4(F2):c.1824C>T (p.Arg608=)SNV Conflicting interpretations of pathogenicity 256314 rs3136532 11:46760913-46760913 11:46739363-46739363
18 F2 NM_000506.3(F2):c.598G>A (p.Glu200Lys)SNV Conflicting interpretations of pathogenicity 13302 rs62623459 11:46747447-46747447 11:46725897-46725897
19 F2 NM_000506.4(F2):c.317-4G>ASNV Conflicting interpretations of pathogenicity 304807 rs375713715 11:46744726-46744726 11:46723176-46723176
20 F2 NM_000506.4(F2):c.813C>T (p.Gly271=)SNV Conflicting interpretations of pathogenicity 304811 rs5899 11:46747662-46747662 11:46726112-46726112
21 F2 NM_000506.4(F2):c.1628G>T (p.Arg543Leu)SNV Conflicting interpretations of pathogenicity 304821 rs143064939 11:46751085-46751085 11:46729535-46729535
22 F2 NM_000506.4(F2):c.1621C>A (p.Arg541=)SNV Conflicting interpretations of pathogenicity 304820 rs886048338 11:46751078-46751078 11:46729528-46729528
23 F2 NM_000506.4(F2):c.1464G>A (p.Thr488=)SNV Conflicting interpretations of pathogenicity 304816 rs146742525 11:46750379-46750379 11:46728829-46728829
24 F2 NM_000506.4(F2):c.1472+9C>TSNV Uncertain significance 304817 rs886048336 11:46750396-46750396 11:46728846-46728846
25 F2 NM_000506.4(F2):c.1567C>T (p.Leu523=)SNV Uncertain significance 304819 rs886048337 11:46751024-46751024 11:46729474-46729474
26 F2 NM_000506.4(F2):c.1815T>C (p.His605=)SNV Uncertain significance 304822 rs368442575 11:46760904-46760904 11:46739354-46739354
27 F2 NM_000506.4(F2):c.559+5G>ASNV Uncertain significance 304808 rs376151472 11:46745073-46745073 11:46723523-46723523
28 F2 NM_000506.4(F2):c.992C>T (p.Ser331Leu)SNV Uncertain significance 304815 rs200812621 11:46748165-46748165 11:46726615-46726615
29 F2 NM_000506.4(F2):c.*44G>TSNV Uncertain significance 304823 rs759287343 11:46761002-46761002 11:46739452-46739452
30 F2 NM_000506.4(F2):c.798C>T (p.Asp266=)SNV Uncertain significance 304810 rs138260543 11:46747647-46747647 11:46726097-46726097
31 F2 NM_000506.4(F2):c.730G>T (p.Ala244Ser)SNV Uncertain significance 304809 rs886048334 11:46747579-46747579 11:46726029-46726029
32 F2 NM_000506.4(F2):c.915G>A (p.Glu305=)SNV Uncertain significance 304813 rs886048335 11:46748088-46748088 11:46726538-46726538
33 F2 NM_000506.4(F2):c.978G>A (p.Pro326=)SNV Uncertain significance 304814 rs142949009 11:46748151-46748151 11:46726601-46726601
34 F2 NM_000506.4(F2):c.1541A>G (p.Asn514Ser)SNV Uncertain significance 304818 rs144011338 11:46750998-46750998 11:46729448-46729448
35 F2 NM_000506.4(F2):c.882C>T (p.Ala294=)SNV Uncertain significance 304812 rs370819135 11:46748055-46748055 11:46726505-46726505
36 F2 NM_000506.4(F2):c.45G>A (p.Leu15=)SNV Uncertain significance 304805 rs886048333 11:46740830-46740830 11:46719280-46719280
37 F2 NM_000506.5(F2):c.191C>T (p.Thr64Met)SNV Uncertain significance 878742 11:46741363-46741363 11:46719813-46719813
38 F2 NM_000506.5(F2):c.234G>A (p.Thr78=)SNV Uncertain significance 878743 11:46741406-46741406 11:46719856-46719856
39 F2 NM_000506.5(F2):c.285G>A (p.Thr95=)SNV Uncertain significance 878744 11:46742359-46742359 11:46720809-46720809
40 F2 NM_000506.5(F2):c.814G>A (p.Val272Met)SNV Uncertain significance 877749 11:46747663-46747663 11:46726113-46726113
41 F2 NM_000506.5(F2):c.1037C>T (p.Ser346Leu)SNV Uncertain significance 878783 11:46748294-46748294 11:46726744-46726744
42 F2 NM_000506.5(F2):c.*9T>GSNV Uncertain significance 877790 11:46760967-46760967 11:46739417-46739417
43 F2 NM_000506.5(F2):c.874+13G>ASNV Uncertain significance 877750 11:46747736-46747736 11:46726186-46726186
44 F2 NC_000011.10:g.46739508C>ASNV Uncertain significance 878831 11:46761058-46761058 11:46739508-46739508
45 F2 NM_000506.5(F2):c.180C>T (p.Cys60=)SNV Likely benign 749493 11:46741352-46741352 11:46719802-46719802
46 F2 NM_000506.4(F2):c.79+7G>ASNV Benign/Likely benign 304806 rs3136431 11:46740871-46740871 11:46719321-46719321
47 F2 NM_000506.4(F2):c.423-7G>CSNV Benign/Likely benign 256315 rs2070852 11:46744925-46744925 11:46723375-46723375
48 F2 NM_000506.4(F2):c.480C>T (p.Pro160=)SNV Benign/Likely benign 256316 rs3136452 11:46744989-46744989 11:46723439-46723439
49 F2 NM_000506.4(F2):c.494C>T (p.Thr165Met)SNV Benign/Likely benign 256317 rs5896 11:46745003-46745003 11:46723453-46723453
50 F2 NM_000506.4(F2):c.1233G>A (p.Pro411=)SNV Benign/Likely benign 256312 rs5898 11:46749648-46749648 11:46728098-46728098

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

73
# 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:

36
# 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 11.09 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 collagen-containing extracellular matrix GO:0062023 9.43 SERPINC1 F2 APOH
3 extracellular space GO:0005615 9.35 SERPINC1 F5 F2 F10 APOH
4 Golgi lumen GO:0005796 9.32 F2 F10
5 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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