FA2D
MCID: PRT129
MIFTS: 48

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 73 58 72 13 54 6
Hypoprothrombinemia 57 73 58 72
Prothrombin Deficiency 58 72
Factor Ii Deficiency 72 70
Hypoprothrombinemias 54 44
Hereditary Factor Ii Deficiency Disease 70
Congenital Prothrombin Deficiency 36
Congenital Factor Ii Deficiency 58
Inherited Factor Ii Deficiency 70
Fa2d 72

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®:

57 (Updated 05-Apr-2021)
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® 57 613679
KEGG 36 H01254
MeSH 44 D007020
ICD10 via Orphanet 33 D68.2
UMLS via Orphanet 71 C0020640 C0272317 C3203356
Orphanet 58 ORPHA325
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Prothrombin Deficiency, Congenital, also known as dysprothrombinemia, is related to prothrombin deficiency and vitamin k deficiency bleeding. 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 Anticoagulants have been mentioned in the context of this disorder. Affiliated tissues include kidney, and related phenotypes are epistaxis and prolonged prothrombin 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 : 72 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 : 73 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 219)
# Related Disease Score Top Affiliating Genes
1 prothrombin deficiency 32.0 SERPINC1 F2 F10
2 vitamin k deficiency bleeding 30.4 SERPINC1 F2
3 factor vii deficiency 29.9 SERPINC1 F2 F10
4 purpura 29.9 SERPINC1 F2 APOH
5 hemarthrosis 29.7 F2 F10
6 infective endocarditis 29.6 F2 APOH
7 thrombasthenia 29.5 F5 F2
8 acquired hemophilia 29.5 F5 F10
9 catastrophic antiphospholipid syndrome 29.4 F5 APOH
10 hemophilia b 29.4 SERPINC1 F2 F10
11 afibrinogenemia, congenital 29.4 SERPINC1 F2 F10
12 endocarditis 29.3 SERPINC1 F2 APOH
13 factor v deficiency 29.2 F5 F2 F10
14 factor xii deficiency 29.0 SERPINC1 F5 APOH
15 deficiency anemia 28.9 SERPINC1 F5 F2
16 antiphospholipid syndrome 28.9 SERPINC1 F5 F2 F10 APOH
17 thrombocytopenia 28.8 SERPINC1 F5 F2 F10 APOH
18 factor viii deficiency 28.7 SERPINC1 F5 F2 F10
19 disseminated intravascular coagulation 28.7 SERPINC1 F5 F2 F10
20 placenta disease 28.7 SERPINC1 F5 F2 APOH
21 thrombosis 28.6 SERPINC1 F5 F2 F10 APOH
22 hemorrhagic disease 28.6 SERPINC1 F5 F2 F10 APOH
23 pulmonary embolism 28.3 SERPINC1 F5 F2 F10 APOH
24 acquired prothrombin deficiency 11.2
25 lupus erythematosus 10.4
26 systemic lupus erythematosus 10.3
27 hemophilia 10.1
28 eclampsia 10.1 SERPINC1 F2
29 lateral sinus thrombosis 10.1 SERPINC1 F2
30 giant hemangioma 10.1 SERPINC1 F2
31 dic in newborn 10.1 SERPINC1 F2
32 waterhouse-friderichsen syndrome 10.1 SERPINC1 F2
33 cavernous sinus thrombosis 10.1 SERPINC1 F2
34 thoracic outlet syndrome 10.1 SERPINC1 F2
35 intracranial sinus thrombosis 10.1 SERPINC1 F2
36 abducens nerve disease 10.1 SERPINC1 F2
37 cholesterol embolism 10.1 SERPINC1 F2
38 intracranial hypotension 10.1 SERPINC1 F2
39 intracranial embolism 10.1 SERPINC1 F2
40 mastoiditis 10.1 SERPINC1 F2
41 anterior cerebral artery infarction 10.1 SERPINC1 F2
42 hepatic coma 10.1 SERPINC1 F2
43 central retinal artery occlusion 10.1 SERPINC1 F2
44 pituitary adenoma 5, multiple types 10.1 SERPINC1 F2
45 heparin-induced thrombocytopenia 10.1 SERPINC1 F10
46 alpha-2-plasmin inhibitor deficiency 10.1 SERPINC1 F2
47 esophageal varix 10.1 SERPINC1 F2
48 compartment syndrome 10.1 SERPINC1 F2
49 leech infestation 10.0 SERPINC1 F10
50 mitral valve stenosis 10.0 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:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
epistaxis

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 Mouth:
gingival bleeding

Genitourinary Internal Genitalia Female:
menorrhagia

Abdomen Gastrointestinal:
gastrointestinal bleeding

Skeletal:
hemarthroses

Clinical features from OMIM®:

613679 (Updated 05-Apr-2021)

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 54678486 6691
2 Anticoagulants Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

Search NIH Clinical Center for Prothrombin Deficiency, Congenital

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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
Kidney

Publications for Prothrombin Deficiency, Congenital

Articles related to Prothrombin Deficiency, Congenital:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Congenital prothrombin deficiency. 57 6 54 61
19598065 2009
2
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. 61 6 57 54
11154146 2000
3
Homozygosity for a novel missense mutation in the prothrombin gene causing a severe bleeding disorder. 54 57 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. 61 6 57
1349838 1992
5
Congenital dysprothrombinemia. 61 57 6
6085205 1984
6
Prothrombin Quick. A newly identified dysprothrombinemia. 61 6 57
625142 1978
7
The prothrombin Denver patient has two different prothrombin point mutations resulting in Glu-300-->Lys and Glu-309-->Lys substitutions. 57 6
10651742 2000
8
Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His). 6 57
1421398 1992
9
Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin. 6 57
3801671 1987
10
Activation of prothrombin Barcelona. Evidence for active high molecular weight intermediates. 57 6
444582 1979
11
Hereditary hypoprothrombinaemias. 57 6
14489469 1962
12
Congenital idiopathic hypoprothrombinemia. 6 57
13228032 1954
13
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. 57 61 54
19141155 2008
14
Congenital deficiencies and abnormalities of prothrombin. 57 54 61
9863703 1998
15
Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. 57 54 61
1334372 1992
16
[Hereditary dysprothrombinemia with a mild bleeding tendency (prothrombin Magdeburg)]. 61 57
2920673 1989
17
Prothrombin Tokushima, a replacement of arginine-418 by tryptophan that impairs the fibrinogen clotting activity of derived thrombin Tokushima. 61 6
3567158 1987
18
Prothrombin Segovia: a new congenital abnormality of prothrombin. 61 57
3090681 1986
19
A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia. 61 57
7152370 1982
20
Prothrombin Gainesville. A dysprothrombinemia in a pair of identical twins. 61 57
7198379 1981
21
Prothrombin padua: a "new" congenital dysprothrombinemia. 57 61
4283787 1974
22
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin. 61 57
5355338 1969
23
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. 57
19531787 2009
24
Thrombophilia: 2009 update. 6
19289024 2009
25
Prothrombin Thrombophilia 6
20301327 2006
26
Prothrombin Saint-Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin. 6
16487178 2006
27
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
28
Geographic distribution of the 20210 G to A prothrombin variant. 6
9569177 1998
29
Partial characterization of vertebrate prothrombin cDNAs: amplification and sequence analysis of the B chain of thrombin from nine different species. 6
1557383 1992
30
Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity. 6
2719946 1989
31
Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382. 6
3242619 1988
32
Prothrombin Poissy: a new variant of human prothrombin. 57
3606959 1987
33
Prothrombin "Mexico City," an asymptomatic autosomal dominant prothrombin variant. 57
3826054 1987
34
Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. 6
3771562 1986
35
Thrombin Metz: characterization of the dysfunctional thrombin derived from a variant of human prothrombin. 57
6546700 1984
36
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. 57
6409139 1983
37
Genetic heterogeneity of prothrombin (FII). 57
7103409 1982
38
Prothrombin Houston: a dysprothrombin identifiable by crossed immunoelectrofocusing and abnormal Echis carinatus venom activation. 57
7362870 1980
39
The hereditary transmission of congenital 'true' hypoprothrombinaemia. 57
5132950 1971
40
Congenital abnormality of the prothrombin molecule (factor II) in four siblings: prothrombin Barcelona. 57
4997605 1971
41
Hereditary prothrombin deficiency. 57
4982446 1970
42
Amino acid composition of human plasma prothrombin. 57
5752075 1968
43
Severe congenital hypoprothrombinemia in a Negro boy. 57
13972173 1962
44
[Study of a case of congenital hypoprothrombinemia]. 57
14042011 1962
45
Congenital hypoprothrombinemic states. 6
13217497 1955
46
A recombinant murine meizothrombin precursor, prothrombin R157A/R268A, inhibits thrombosis in a model of acute carotid artery injury. 54 61
15039280 2004
47
A common mutation, Arg457-->Gln, links prothrombin deficiencies in the Puerto Rican population. 54 61
14629473 2003
48
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
49
Prothrombin San Antonio: a single amino acid substitution at a factor Xa activation site (Arg320 to His) results in dysprothrombinemia. 61 54
10627484 2000
50
Prothrombin Greenville, Arg517-->Gln, identified in an individual heterozygous for dysprothrombinemia. 61 54
9490687 1998

Variations for Prothrombin Deficiency, Congenital

ClinVar genetic disease variations for Prothrombin Deficiency, Congenital:

6 (show top 50) (show all 54)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F2 NM_000506.3(F2):c.940C>T (p.Arg314Cys) SNV Pathogenic 13303 rs121918477 GRCh37: 11:46748113-46748113
GRCh38: 11:46726563-46726563
2 F2 NM_000506.3(F2):c.1381C>T (p.Arg461Trp) SNV Pathogenic 13304 rs121918478 GRCh37: 11:46750296-46750296
GRCh38: 11:46728746-46728746
3 F2 NM_000506.3(F2):c.1273C>T (p.Arg425Cys) SNV Pathogenic 13305 rs121918479 GRCh37: 11:46749688-46749688
GRCh38: 11:46728138-46728138
4 F2 NM_000506.3(F2):c.1802G>T (p.Gly601Val) SNV Pathogenic 13306 rs121918480 GRCh37: 11:46760891-46760891
GRCh38: 11:46739341-46739341
5 F2 NM_000506.3(F2):c.1139T>C (p.Met380Thr) SNV Pathogenic 13307 rs121918481 GRCh37: 11:46749554-46749554
GRCh38: 11:46728004-46728004
6 F2 NM_000506.4(F2):c.462_463insT (p.Asn155Ter) Insertion Pathogenic 13309 rs387906522 GRCh37: 11:46744971-46744972
GRCh38: 11:46723421-46723422
7 F2 NM_000506.3(F2):c.1027G>A (p.Glu343Lys) SNV Pathogenic 13311 rs121918483 GRCh37: 11:46748284-46748284
GRCh38: 11:46726734-46726734
8 F2 NM_000506.3(F2):c.1054G>A (p.Glu352Lys) SNV Pathogenic 13312 rs121918484 GRCh37: 11:46748311-46748311
GRCh38: 11:46726761-46726761
9 F2 NM_000506.4(F2):c.1274G>A (p.Arg425His) SNV Pathogenic 13313 rs121918485 GRCh37: 11:46749689-46749689
GRCh38: 11:46728139-46728139
10 F2 NM_000506.3(F2):c.1785C>G (p.Asp595Glu) SNV Pathogenic 13314 rs121918486 GRCh37: 11:46760874-46760874
GRCh38: 11:46739324-46739324
11 F2 F2, TYR44CYS SNV Pathogenic 29851 GRCh37:
GRCh38:
12 F2 NM_000506.5(F2):c.1750C>T (p.Gln584Ter) SNV Pathogenic 1033060 GRCh37: 11:46760839-46760839
GRCh38: 11:46739289-46739289
13 F2 NM_000506.5(F2):c.*97G>A SNV risk factor 13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
14 F2 NM_000506.5(F2):c.*97G>A SNV Conflicting interpretations of pathogenicity 13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
15 F2 NM_000506.4(F2):c.317-4G>A SNV Conflicting interpretations of pathogenicity 304807 rs375713715 GRCh37: 11:46744726-46744726
GRCh38: 11:46723176-46723176
16 F2 NM_000506.4(F2):c.1464G>A (p.Thr488=) SNV Conflicting interpretations of pathogenicity 304816 rs146742525 GRCh37: 11:46750379-46750379
GRCh38: 11:46728829-46728829
17 F2 NM_000506.5(F2):c.814G>A (p.Val272Met) SNV Uncertain significance 877749 GRCh37: 11:46747663-46747663
GRCh38: 11:46726113-46726113
18 F2 NM_000506.5(F2):c.874+13G>A SNV Uncertain significance 877750 GRCh37: 11:46747736-46747736
GRCh38: 11:46726186-46726186
19 F2 NM_000506.5(F2):c.*9T>G SNV Uncertain significance 877790 GRCh37: 11:46760967-46760967
GRCh38: 11:46739417-46739417
20 F2 NM_000506.5(F2):c.234G>A (p.Thr78=) SNV Uncertain significance 878743 GRCh37: 11:46741406-46741406
GRCh38: 11:46719856-46719856
21 F2 NM_000506.5(F2):c.285G>A (p.Thr95=) SNV Uncertain significance 878744 GRCh37: 11:46742359-46742359
GRCh38: 11:46720809-46720809
22 F2 NM_000506.5(F2):c.1037C>T (p.Ser346Leu) SNV Uncertain significance 878783 GRCh37: 11:46748294-46748294
GRCh38: 11:46726744-46726744
23 F2 NC_000011.10:g.46739508C>A SNV Uncertain significance 878831 GRCh37: 11:46761058-46761058
GRCh38: 11:46739508-46739508
24 F2 NM_000506.4(F2):c.730G>T (p.Ala244Ser) SNV Uncertain significance 304809 rs886048334 GRCh37: 11:46747579-46747579
GRCh38: 11:46726029-46726029
25 F2 NM_000506.4(F2):c.45G>A (p.Leu15=) SNV Uncertain significance 304805 rs886048333 GRCh37: 11:46740830-46740830
GRCh38: 11:46719280-46719280
26 F2 NM_000506.4(F2):c.882C>T (p.Ala294=) SNV Uncertain significance 304812 rs370819135 GRCh37: 11:46748055-46748055
GRCh38: 11:46726505-46726505
27 F2 NM_000506.4(F2):c.992C>T (p.Ser331Leu) SNV Uncertain significance 304815 rs200812621 GRCh37: 11:46748165-46748165
GRCh38: 11:46726615-46726615
28 F2 NM_000506.4(F2):c.1815T>C (p.His605=) SNV Uncertain significance 304822 rs368442575 GRCh37: 11:46760904-46760904
GRCh38: 11:46739354-46739354
29 F2 NM_000506.4(F2):c.559+5G>A SNV Uncertain significance 304808 rs376151472 GRCh37: 11:46745073-46745073
GRCh38: 11:46723523-46723523
30 F2 NM_000506.4(F2):c.978G>A (p.Pro326=) SNV Uncertain significance 304814 rs142949009 GRCh37: 11:46748151-46748151
GRCh38: 11:46726601-46726601
31 F2 NM_000506.4(F2):c.798C>T (p.Asp266=) SNV Uncertain significance 304810 rs138260543 GRCh37: 11:46747647-46747647
GRCh38: 11:46726097-46726097
32 F2 NM_000506.4(F2):c.915G>A (p.Glu305=) SNV Uncertain significance 304813 rs886048335 GRCh37: 11:46748088-46748088
GRCh38: 11:46726538-46726538
33 F2 NM_000506.4(F2):c.1621C>A (p.Arg541=) SNV Uncertain significance 304820 rs886048338 GRCh37: 11:46751078-46751078
GRCh38: 11:46729528-46729528
34 F2 NM_000506.4(F2):c.1472+9C>T SNV Uncertain significance 304817 rs886048336 GRCh37: 11:46750396-46750396
GRCh38: 11:46728846-46728846
35 F2 NM_000506.4(F2):c.1567C>T (p.Leu523=) SNV Uncertain significance 304819 rs886048337 GRCh37: 11:46751024-46751024
GRCh38: 11:46729474-46729474
36 F2 NM_000506.4(F2):c.*44G>T SNV Uncertain significance 304823 rs759287343 GRCh37: 11:46761002-46761002
GRCh38: 11:46739452-46739452
37 F2 NM_000506.4(F2):c.1541A>G (p.Asn514Ser) SNV Uncertain significance 304818 rs144011338 GRCh37: 11:46750998-46750998
GRCh38: 11:46729448-46729448
38 F2 NM_000506.5(F2):c.495G>A (p.Thr165=) SNV Uncertain significance 756801 rs144857547 GRCh37: 11:46745004-46745004
GRCh38: 11:46723454-46723454
39 F2 NM_000506.3(F2):c.598G>A (p.Glu200Lys) SNV Uncertain significance 13302 rs62623459 GRCh37: 11:46747447-46747447
GRCh38: 11:46725897-46725897
40 F2 NM_000506.5(F2):c.191C>T (p.Thr64Met) SNV Uncertain significance 878742 GRCh37: 11:46741363-46741363
GRCh38: 11:46719813-46719813
41 F2 NM_000506.5(F2):c.371G>A (p.Arg124Gln) SNV Uncertain significance 1033061 GRCh37: 11:46744784-46744784
GRCh38: 11:46723234-46723234
42 F2 NM_000506.4(F2):c.1824C>T (p.Arg608=) SNV Likely benign 256314 rs3136532 GRCh37: 11:46760913-46760913
GRCh38: 11:46739363-46739363
43 F2 NM_000506.5(F2):c.180C>T (p.Cys60=) SNV Likely benign 749493 rs374353447 GRCh37: 11:46741352-46741352
GRCh38: 11:46719802-46719802
44 F2 NM_000506.5(F2):c.1298+11G>C SNV Likely benign 879371 GRCh37: 11:46749724-46749724
GRCh38: 11:46728174-46728174
45 F2 NM_000506.5(F2):c.843C>T (p.Gly281=) SNV Benign/Likely benign 708725 rs147699032 GRCh37: 11:46747692-46747692
GRCh38: 11:46726142-46726142
46 F2 NM_000506.4(F2):c.1233G>A (p.Pro411=) SNV Benign 256312 rs5898 GRCh37: 11:46749648-46749648
GRCh38: 11:46728098-46728098
47 F2 NM_000506.4(F2):c.79+7G>A SNV Benign 304806 rs3136431 GRCh37: 11:46740871-46740871
GRCh38: 11:46719321-46719321
48 F2 NM_000506.4(F2):c.423-7G>C SNV Benign 256315 rs2070852 GRCh37: 11:46744925-46744925
GRCh38: 11:46723375-46723375
49 F2 NM_000506.4(F2):c.813C>T (p.Gly271=) SNV Benign 304811 rs5899 GRCh37: 11:46747662-46747662
GRCh38: 11:46726112-46726112
50 F2 NM_000506.4(F2):c.1628G>T (p.Arg543Leu) SNV Benign 304821 rs143064939 GRCh37: 11:46751085-46751085
GRCh38: 11:46729535-46729535

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

72
# 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
12.29 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 9.54 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 9.4 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
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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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