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 76 59 75 13 55
Hypoprothrombinemia 57 76 59 75
Prothrombin Deficiency 59 75
Factor Ii Deficiency 75 73
Hereditary Factor Ii Deficiency Disease 73
Congenital Prothrombin Deficiency 37
Congenital Factor Ii Deficiency 59
Inherited Factor Ii Deficiency 73
Hypoprothrombinemias 55
Fa2d 75

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:
Onset and clinical course variable expressivity congenital onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613679
Orphanet 59 ORPHA325
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 74 C0272317 C0020640 C3203356
MeSH 44 D007020
KEGG 37 H01254

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 infective endocarditis. 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, spinal cord and placenta, and related phenotypes are gastrointestinal hemorrhage and epistaxis

UniProtKB/Swiss-Prot : 75 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 : 76 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 137)
# Related Disease Score Top Affiliating Genes
1 factor vii deficiency 30.1 F10 F2
2 infective endocarditis 29.8 APOH F2
3 catastrophic antiphospholipid syndrome 29.7 APOH F5
4 endocarditis 29.6 APOH F2 SERPINC1
5 factor v deficiency 29.5 F10 F2 F5
6 thrombasthenia 29.5 F2 F5
7 factor xii deficiency 29.4 APOH F5 SERPINC1
8 purpura 29.4 APOH F2 SERPINC1
9 thrombophilia due to thrombin defect 28.9 APOH F10 F2 F5 SERPINC1
10 antiphospholipid syndrome 28.9 APOH F10 F2 F5 SERPINC1
11 pulmonary embolism 28.9 APOH F10 F2 F5 SERPINC1
12 thrombosis 28.9 APOH F10 F2 F5 SERPINC1
13 acquired prothrombin deficiency 11.6
14 lupus erythematosus 10.3
15 systemic lupus erythematosus 10.3
16 eclampsia 10.1 F2 SERPINC1
17 intestinal impaction 10.1 F2 SERPINC1
18 fournier gangrene 10.1 F2 SERPINC1
19 alpha-2-plasmin inhibitor deficiency 10.1 F2 SERPINC1
20 intracranial embolism 10.1 F2 SERPINC1
21 giant hemangioma 10.1 F2 SERPINC1
22 blue toe syndrome 10.1 F2 SERPINC1
23 subendocardial myocardial infarction 10.1 F2 SERPINC1
24 korean hemorrhagic fever 10.1 F2 SERPINC1
25 hemorrhagic fever 10.1 F2 SERPINC1
26 marantic endocarditis 10.1 F2 SERPINC1
27 heparin-induced thrombocytopenia 10.1 F10 SERPINC1
28 purpura fulminans 10.1 F2 SERPINC1
29 esophageal varix 10.1 F2 SERPINC1
30 anterior spinal artery syndrome 10.1 F2 SERPINC1
31 hypersplenism 10.1 F2 SERPINC1
32 inherited blood coagulation disease 10.0 F2 SERPINC1
33 hepatic vascular disease 10.0 F2 SERPINC1
34 papilledema 10.0 APOH F2
35 factor xi deficiency 10.0 F2 SERPINC1
36 scott syndrome 10.0 F10 F2
37 thrombocytopenia 10.0
38 buerger disease 10.0 APOH F2
39 afibrinogenemia, congenital 10.0 F2 SERPINC1
40 prothrombin deficiency 10.0
41 arteritic anterior ischemic optic neuropathy 10.0 F2 F5
42 osteonecrosis 10.0 F2 SERPINC1
43 paracetamol poisoning 10.0 F2 F5
44 thrombocytosis 10.0 F2 SERPINC1
45 hemoglobin e disease 10.0 F2 F5
46 cryptogenic cirrhosis 10.0 F2 F5
47 peripheral vascular disease 10.0 F2 SERPINC1
48 factor viii deficiency 10.0 F2 F5
49 porencephaly 10.0 F2 F5
50 acquired hemophilia 10.0 F10 F5

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



Diseases related to Prothrombin Deficiency, Congenital

Symptoms & Phenotypes for Prothrombin Deficiency, Congenital

Symptoms via clinical synopsis from OMIM:

57
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
Abdomen Gastrointestinal:
gastrointestinal bleeding

Muscle Soft Tissue:
hematomas
umbilical cord hemorrhage

Neurologic Central Nervous System:
intracranial bleeding

Head And Neck Mouth:
gingival bleeding

Genitourinary Internal Genitalia Female:
menorrhagia

Skin Nails Hair Skin:
ecchymosis
easy bruising

Skeletal:
hemarthroses


Clinical features from OMIM:

613679

Human phenotypes related to Prothrombin Deficiency, Congenital:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 gastrointestinal hemorrhage 32 HP:0002239
2 epistaxis 32 HP:0000421
3 bruising susceptibility 32 HP:0000978
4 gingival bleeding 32 HP:0000225
5 prolonged bleeding time 32 HP:0003010
6 menorrhagia 32 HP:0000132
7 prolonged partial thromboplastin time 32 HP:0003645
8 prolonged prothrombin time 32 HP:0008151
9 joint hemorrhage 32 HP:0005261
10 ecchymosis 32 HP:0031364
11 reduced prothrombin activity 32 HP:0012201

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 Randomized Controlled Feasibility Trial of the Fearon Algorithm to Improve Management of Unstable Warfarin Terminated NCT02267408 Phase 1, Phase 2
3 Antibiotic-associated Coagulopathy Unknown status NCT02172833

Search NIH Clinical Center for Prothrombin Deficiency, Congenital

Inferred drug relations via UMLS 73 / NDF-RT 51 :


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, Spinal Cord, Placenta

Publications for Prothrombin Deficiency, Congenital

Articles related to Prothrombin Deficiency, Congenital:

(show top 50) (show all 57)
# Title Authors Year
1
Bleeding manifestations in heterozygotes with prothrombin deficiency or abnormalities vs. unaffected family members as observed during a long follow-up study. ( 28665815 )
2017
2
A case of congenital prothrombin deficiency and idiopathic thrombocytopenic purpura in a pregnant female. ( 26886363 )
2016
3
A case of pregnancy complicated with congenital dysprothrombinemia (prothrombin Tokushima). ( 26192110 )
2015
4
Congenital prothrombin deficiency: an update. ( 23852823 )
2013
5
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. ( 23711336 )
2013
6
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. ( 23152198 )
2013
7
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. ( 22392504 )
2012
8
Prophylaxis in severe prothrombin deficiency. ( 20950404 )
2011
9
Hereditary prothrombin deficiency. ( 19750864 )
2009
10
Congenital prothrombin deficiency. ( 19598065 )
2009
11
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). ( 18852482 )
2008
12
Acquired prothrombin deficiency in a patient with follicular lymphoma. ( 18355267 )
2008
13
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. ( 18306360 )
2008
14
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. ( 17002658 )
2006
15
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. ( 16543981 )
2006
16
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. ( 17083522 )
2006
17
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --&amp;gt; Thr (Prothrombin Vellore 1) mutation. ( 15892853 )
2005
18
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. ( 14504091 )
2004
19
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). ( 15284583 )
2004
20
[Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. ( 14575584 )
2003
21
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. ( 12437569 )
2002
22
Rescue of prothrombin-deficiency by transgene expression in mice. ( 12529749 )
2002
23
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. ( 11241228 )
2001
24
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. ( 11154146 )
2000
25
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. ( 10706027 )
1999
26
Prothrombin deficiency results in embryonic and neonatal lethality in mice. ( 9636195 )
1998
27
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. ( 9636196 )
1998
28
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. ( 8980268 )
1997
29
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. ( 7978060 )
1994
30
Detection of the carrier state in congenital &amp;quot;true&amp;quot; prothrombin deficiency. ( 3354565 )
1988
31
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. ( 3115223 )
1987
32
Prothrombin Perija: a new congenital dysprothrombinemia in an Indian family. ( 3810561 )
1986
33
Congenital dysprothrombinemia. ( 6085205 )
1984
34
Prothrombin Habana: a new dysfunctional molecule of human prothrombin associated with a true prothrombin deficiency. ( 6409139 )
1983
35
Prothrombin deficiency in a cocker spaniel. ( 6980872 )
1982
36
A new variant of human prothrombin: prothrombin Metz, demonstration in a family showing double heterozygosity for congenital hypoprothrombinemia and dysprothrombinemia. ( 7152370 )
1982
37
Prothrombin Gainesville. A dysprothrombinemia in a pair of identical twins. ( 7198379 )
1981
38
Prothrombin Molise: a "new" congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and "true" prothrombin deficiency. ( 418829 )
1978
39
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. ( 4434662 )
1974
40
Prothrombin padua: a "new" congenital dysprothrombinemia. ( 4283787 )
1974
41
Hereditary prothrombin deficiency. ( 4982446 )
1970
42
Christmas disease associated with prothrombin deficiency and thrombasthenia. ( 5350280 )
1969
43
Congenital dysprothrombinemia: an inherited structural disorder of human prothrombin. ( 5355338 )
1969
44
Severe isolated prothrombin deficiency: an acquired state with complete recovery. ( 13962584 )
1962
45
Idiopathic steatorrhea with hemorrhagic manifestations due to prothrombin deficiency. ( 13236055 )
1955
46
The measurement of prothrombin in plasma; a case of prothrombin deficiency. ( 13034913 )
1953
47
CLINICO-pathological conference; diffuse nodular cirrhosis and subacute hepatitis; icterus; cerebral edema and probable prothrombin deficiency. ( 15434966 )
1950
48
Prothrombin deficiency of the newborn. ( 18129082 )
1949
49
The nature of the prothrombin deficiency in dicoumarin plasma. ( 18130447 )
1949
50
The Use of Synthetic Vitamin K Substitutes in the Treatment of Prothrombin Deficiency. ( 20322499 )
1942

Variations for Prothrombin Deficiency, Congenital

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

75
# 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

ClinVar genetic disease variations for Prothrombin Deficiency, Congenital:

6 (show top 50) (show all 71)
# Gene Variation Type Significance SNP ID Assembly Location
1 F2 NM_000506.3(F2): c.940C> T (p.Arg314Cys) single nucleotide variant Pathogenic rs121918477 GRCh37 Chromosome 11, 46748113: 46748113
2 F2 NM_000506.3(F2): c.940C> T (p.Arg314Cys) single nucleotide variant Pathogenic rs121918477 GRCh38 Chromosome 11, 46726563: 46726563
3 F2 NM_000506.3(F2): c.1381C> T (p.Arg461Trp) single nucleotide variant Pathogenic rs121918478 GRCh37 Chromosome 11, 46750296: 46750296
4 F2 NM_000506.3(F2): c.1381C> T (p.Arg461Trp) single nucleotide variant Pathogenic rs121918478 GRCh38 Chromosome 11, 46728746: 46728746
5 F2 NM_000506.3(F2): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121918479 GRCh37 Chromosome 11, 46749688: 46749688
6 F2 NM_000506.3(F2): c.1273C> T (p.Arg425Cys) single nucleotide variant Pathogenic rs121918479 GRCh38 Chromosome 11, 46728138: 46728138
7 F2 NM_000506.3(F2): c.1802G> T (p.Gly601Val) single nucleotide variant Pathogenic rs121918480 GRCh37 Chromosome 11, 46760891: 46760891
8 F2 NM_000506.3(F2): c.1802G> T (p.Gly601Val) single nucleotide variant Pathogenic rs121918480 GRCh38 Chromosome 11, 46739341: 46739341
9 F2 NM_000506.3(F2): c.1139T> C (p.Met380Thr) single nucleotide variant Pathogenic rs121918481 GRCh37 Chromosome 11, 46749554: 46749554
10 F2 NM_000506.3(F2): c.1139T> C (p.Met380Thr) single nucleotide variant Pathogenic rs121918481 GRCh38 Chromosome 11, 46728004: 46728004
11 F2 NM_000506.4(F2): c.462_463insT (p.Asn155Terfs) insertion Pathogenic rs387906522 GRCh37 Chromosome 11, 46744971: 46744972
12 F2 NM_000506.4(F2): c.462_463insT (p.Asn155Terfs) insertion Pathogenic rs387906522 GRCh38 Chromosome 11, 46723421: 46723422
13 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh37 Chromosome 11, 46761055: 46761055
14 F2 NM_000506.4(F2): c.*97G> A single nucleotide variant Pathogenic rs1799963 GRCh38 Chromosome 11, 46739505: 46739505
15 F2 NM_000506.3(F2): c.1027G> A (p.Glu343Lys) single nucleotide variant Pathogenic rs121918483 GRCh37 Chromosome 11, 46748284: 46748284
16 F2 NM_000506.3(F2): c.1027G> A (p.Glu343Lys) single nucleotide variant Pathogenic rs121918483 GRCh38 Chromosome 11, 46726734: 46726734
17 F2 NM_000506.3(F2): c.1054G> A (p.Glu352Lys) single nucleotide variant Pathogenic rs121918484 GRCh37 Chromosome 11, 46748311: 46748311
18 F2 NM_000506.3(F2): c.1054G> A (p.Glu352Lys) single nucleotide variant Pathogenic rs121918484 GRCh38 Chromosome 11, 46726761: 46726761
19 F2 NM_000506.4(F2): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121918485 GRCh37 Chromosome 11, 46749689: 46749689
20 F2 NM_000506.4(F2): c.1274G> A (p.Arg425His) single nucleotide variant Pathogenic rs121918485 GRCh38 Chromosome 11, 46728139: 46728139
21 F2 NM_000506.3(F2): c.1785C> G (p.Asp595Glu) single nucleotide variant Pathogenic rs121918486 GRCh37 Chromosome 11, 46760874: 46760874
22 F2 NM_000506.3(F2): c.1785C> G (p.Asp595Glu) single nucleotide variant Pathogenic rs121918486 GRCh38 Chromosome 11, 46739324: 46739324
23 F2 F2, TYR44CYS single nucleotide variant Pathogenic
24 F2 NM_000506.4(F2): c.423-7G> C single nucleotide variant Benign/Likely benign rs2070852 GRCh38 Chromosome 11, 46723375: 46723375
25 F2 NM_000506.4(F2): c.423-7G> C single nucleotide variant Benign/Likely benign rs2070852 GRCh37 Chromosome 11, 46744925: 46744925
26 F2 NM_000506.4(F2): c.480C> T (p.Pro160=) single nucleotide variant Benign/Likely benign rs3136452 GRCh38 Chromosome 11, 46723439: 46723439
27 F2 NM_000506.4(F2): c.480C> T (p.Pro160=) single nucleotide variant Benign/Likely benign rs3136452 GRCh37 Chromosome 11, 46744989: 46744989
28 F2 NM_000506.4(F2): c.494C> T (p.Thr165Met) single nucleotide variant Benign/Likely benign rs5896 GRCh37 Chromosome 11, 46745003: 46745003
29 F2 NM_000506.4(F2): c.494C> T (p.Thr165Met) single nucleotide variant Benign/Likely benign rs5896 GRCh38 Chromosome 11, 46723453: 46723453
30 F2 NM_000506.4(F2): c.1233G> A (p.Pro411=) single nucleotide variant Conflicting interpretations of pathogenicity rs5898 GRCh37 Chromosome 11, 46749648: 46749648
31 F2 NM_000506.4(F2): c.1233G> A (p.Pro411=) single nucleotide variant Conflicting interpretations of pathogenicity rs5898 GRCh38 Chromosome 11, 46728098: 46728098
32 F2 NM_000506.4(F2): c.1602G> A (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs5900 GRCh37 Chromosome 11, 46751059: 46751059
33 F2 NM_000506.4(F2): c.1602G> A (p.Pro534=) single nucleotide variant Conflicting interpretations of pathogenicity rs5900 GRCh38 Chromosome 11, 46729509: 46729509
34 F2 NM_000506.4(F2): c.45G> A (p.Leu15=) single nucleotide variant Uncertain significance rs886048333 GRCh37 Chromosome 11, 46740830: 46740830
35 F2 NM_000506.4(F2): c.45G> A (p.Leu15=) single nucleotide variant Uncertain significance rs886048333 GRCh38 Chromosome 11, 46719280: 46719280
36 F2 NM_000506.4(F2): c.79+7G> A single nucleotide variant Uncertain significance rs3136431 GRCh37 Chromosome 11, 46740871: 46740871
37 F2 NM_000506.4(F2): c.79+7G> A single nucleotide variant Uncertain significance rs3136431 GRCh38 Chromosome 11, 46719321: 46719321
38 F2 NM_000506.4(F2): c.317-4G> A single nucleotide variant Uncertain significance rs375713715 GRCh37 Chromosome 11, 46744726: 46744726
39 F2 NM_000506.4(F2): c.317-4G> A single nucleotide variant Uncertain significance rs375713715 GRCh38 Chromosome 11, 46723176: 46723176
40 F2 NM_000506.4(F2): c.813C> T (p.Gly271=) single nucleotide variant Uncertain significance rs5899 GRCh37 Chromosome 11, 46747662: 46747662
41 F2 NM_000506.4(F2): c.813C> T (p.Gly271=) single nucleotide variant Uncertain significance rs5899 GRCh38 Chromosome 11, 46726112: 46726112
42 F2 NM_000506.4(F2): c.882C> T (p.Ala294=) single nucleotide variant Uncertain significance rs370819135 GRCh37 Chromosome 11, 46748055: 46748055
43 F2 NM_000506.4(F2): c.882C> T (p.Ala294=) single nucleotide variant Uncertain significance rs370819135 GRCh38 Chromosome 11, 46726505: 46726505
44 F2 NM_000506.4(F2): c.1628G> T (p.Arg543Leu) single nucleotide variant Uncertain significance rs143064939 GRCh38 Chromosome 11, 46729535: 46729535
45 F2 NM_000506.4(F2): c.1628G> T (p.Arg543Leu) single nucleotide variant Uncertain significance rs143064939 GRCh37 Chromosome 11, 46751085: 46751085
46 F2 NM_000506.4(F2): c.730G> T (p.Ala244Ser) single nucleotide variant Uncertain significance rs886048334 GRCh37 Chromosome 11, 46747579: 46747579
47 F2 NM_000506.4(F2): c.730G> T (p.Ala244Ser) single nucleotide variant Uncertain significance rs886048334 GRCh38 Chromosome 11, 46726029: 46726029
48 F2 NM_000506.4(F2): c.915G> A (p.Glu305=) single nucleotide variant Uncertain significance rs886048335 GRCh37 Chromosome 11, 46748088: 46748088
49 F2 NM_000506.4(F2): c.915G> A (p.Glu305=) single nucleotide variant Uncertain significance rs886048335 GRCh38 Chromosome 11, 46726538: 46726538
50 F2 NM_000506.4(F2): c.978G> A (p.Pro326=) single nucleotide variant Uncertain significance rs142949009 GRCh37 Chromosome 11, 46748151: 46748151

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 APOH F10 F2 F5 SERPINC1
2
Show member pathways
12.28 F10 F2 F5 SERPINC1
3
Show member pathways
11.46 F10 F2 F5 SERPINC1
4
Show member pathways
11.4 F10 F2
5 11.07 F10 F2 F5 SERPINC1
6 10.5 F10 F2

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 APOH F10 F2 F5 SERPINC1
2 extracellular space GO:0005615 9.35 APOH F10 F2 F5 SERPINC1
3 Golgi lumen GO:0005796 9.26 F10 F2
4 endoplasmic reticulum lumen GO:0005788 8.92 F10 F2 F5 SERPINC1

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 F2 F5 SERPINC1
2 ER to Golgi vesicle-mediated transport GO:0006888 9.58 F10 F2 F5
3 platelet degranulation GO:0002576 9.46 APOH F5
4 blood coagulation GO:0007596 9.46 F10 F2 F5 SERPINC1
5 blood coagulation, intrinsic pathway GO:0007597 9.37 APOH F2
6 positive regulation of blood coagulation GO:0030194 9.32 APOH F2
7 negative regulation of fibrinolysis GO:0051918 9.26 APOH F2
8 regulation of blood coagulation GO:0030193 9.13 APOH F2 SERPINC1
9 hemostasis GO:0007599 8.92 F10 F2 F5 SERPINC1

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 APOH F10
2 heparin binding GO:0008201 8.8 APOH F2 SERPINC1

Sources for Prothrombin Deficiency, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
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38 LifeMap
40 LOVD
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