MCID: PRT012
MIFTS: 57

Prothrombin Deficiency malady

Blood diseases category

Summaries for Prothrombin Deficiency

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Prothrombin deficiency is a bleeding disorder that slows the blood clotting process. People with this condition often experience prolonged bleeding following an injury, surgery, or having a tooth pulled. In severe cases of prothrombin deficiency, heavy bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Women with prothrombin deficiency can have prolonged and sometimes abnormally heavy menstrual bleeding. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms of prothrombin deficiency do not involve spontaneous bleeding, and the condition may only become apparent following surgery or a serious injury.

MalaCards: Prothrombin Deficiency, also known as hypoprothrombinemia, is related to antiphospholipid syndrome and arthropathy. An important gene associated with Prothrombin Deficiency is F2 (coagulation factor II (thrombin)), and among its related pathways are Common Pathway and Platelet activation, signaling and aggregation. The drugs vitamin k 3 and vitamin k 1 and the compounds warfarin and brodifacoum have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and skin.

Wikipedia:63 Hypoprothrombinemia is a blood disorder in which a deficiency of prothrombin (Factor II) results in... more...

Description from OMIM:46 613679

Aliases & Classifications for Prothrombin Deficiency

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Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 48Orphanet, 46OMIM, 60UMLS, 44Novoseek, 39NCIt, 34MeSH, 56SNOMED-CT, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Characteristics (Orphanet epidemiological data):

48
prothrombin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

prothrombin deficiency 8 20 21 48
hypoprothrombinemia 8 21 46 48
factor ii deficiency 21 60
dysprothrombinemia 21 48
hereditary factor ii deficiency disease 60
congenital factor ii deficiency 48
inherited factor ii deficiency 60
hypoprothrombinemias 44


External Ids:

Disease Ontology8 DOID:2235
NCIt39 C26799
MeSH34 D007020
SNOMED-CT56 191283001, 73975000
OMIM46 613679
ICD10 via Orphanet26 D68.2
SNOMED-CT via Orphanet57 33297000

Related Diseases for Prothrombin Deficiency

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Prothrombin Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 65)
idRelated DiseaseScoreTop Affiliating Genes
1antiphospholipid syndrome30.0F3, F2
2arthropathy29.9F9
3factor xii deficiency29.9F3
4factor v deficiency29.9F2, F3
5thrombocytopenia29.9F9, F3, F2
6hepatitis10.1
7acquired hypoprothrombinemia10.1
8systemic lupus erythematosus10.1
9lupus erythematosus10.1
10obstructive jaundice10.0
11cerebritis10.0
12liver disease10.0
13scabies10.0
14inherited hypoprothrombinemia10.0
15hepatitis a10.0F2
16liver cirrhosis10.0F2
17portal vein thrombosis10.0F2
18respiratory failure10.0F3
19atherosclerosis10.0F3
20hemorrhagic disease10.0F9
21sickle cell disease10.0F9
22hypercholesterolemia10.0F9
23nephrotic syndrome10.0F9
24hypothyroidism10.0F9
25stroke, ischemic10.0F3
26cystic fibrosis10.0F9
27viral hepatitis10.0F2
28vitamin k deficiency hemorrhagic disease10.0F3, F2
29protein s deficiency10.0F3, F2
30afibrinogenemia10.0F2, F3
31pregnancy loss10.0F2, F3
32thrombocytosis10.0F3, F2
33primary hyperoxaluria10.0F2, F3
34galactosemia10.0F3, F2
35hemarthrosis10.0F3, F9
36leukopenia10.0F2, F3
37congenital heart defect10.0F3, F2
38glanzmann's thrombasthenia10.0F3, F9
39protein c deficiency10.0F9, F2
40hyperhomocysteinemia10.0F2, F9
41myocardial infarction10.0F3, F9
42bernard-soulier syndrome10.0F2, F9
43bilirubin metabolic disorder10.0F9, F2
44connective tissue disease10.0F2, F3
45hepatitis c10.0F2, F9
46coronary artery disease10.0F3, F9
47hypervitaminosis a10.0
48megaloblastic anemia10.0
49pre-eclampsia10.0F2, F3
50factor x deficiency10.0F2, F3, F9

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



Diseases related to prothrombin deficiency

Clinical Features for Prothrombin Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

613679

Clinical synopsis from OMIM:

613679

Drugs & Therapeutics for Prothrombin Deficiency

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Prothrombin Deficiency

Drug clinical trials:

Search ClinicalTrials for Prothrombin Deficiency

Search NIH Clinical Center for Prothrombin Deficiency

Search CenterWatch for Prothrombin Deficiency

Inferred drug relations via UMLS60/NDF-RT40:

Genetic Tests for Prothrombin Deficiency

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Sources:
20GeneTests
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Genetic tests related to Prothrombin Deficiency:

id Genetic test Affiliating Genes
1 Prothrombin Deficiency20 F2

Anatomical Context for Prothrombin Deficiency

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32MalaCards
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MalaCards organs/tissues related to Prothrombin Deficiency:

32
Brain, Liver, Skin, Whole blood, Endothelial

Animal Models for Prothrombin Deficiency or affiliated genes

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Publications for Prothrombin Deficiency

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Sources:
50PubMed
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Articles related to Prothrombin Deficiency:

(show top 50)    (show all 83)
idTitleAuthorsYear
1
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. (23711336)
2013
2
Congenital prothrombin deficiency: an update. (23852823)
2013
3
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. (22392504)
2012
4
Prophylaxis in severe prothrombin deficiency. (20950404)
2011
5
Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. (19190829)
2009
6
Hereditary prothrombin deficiency. (19750864)
2009
7
Congenital prothrombin deficiency. (19598065)
2009
8
Prophylaxis with prothrombin complex concentrate in four children with severe congenital factor X deficiency. (19149864)
2009
9
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). (18852482)
2008
10
Mutations are no substitutes for clotting, chromogenic and immunological assays in patients with congenital prothrombin deficiency. (18306360)
2008
11
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. (16543981)
2006
12
Changes in prothrombin and activated partial thromboplastin time during replacement therapy with human recombinant growth hormone in growth hormone deficient adults. (16950752)
2006
13
Sensitivity of commercial prothrombin time reagents to detect coagulation factor deficiencies in equine plasma. (16427588)
2006
14
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --&gt; Thr (Prothrombin Vellore 1) mutation. (15892853)
2005
15
No effect of the prothrombin G20210A mutation on protein C activation in a large kindred with type I protein C deficiency. (15389124)
2004
16
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. (14504091)
2004
17
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). (15284583)
2004
18
Mesenteric venous thrombosis in a patient with prothrombin 20210A mutation and antithrombin III deficiency: challenges to conventional anticoagulation--a case report. (12894373)
2003
19
Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. (14575584)
2003
20
Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma. (12788020)
2003
21
Recurrent pulmonary embolism in a 13-year-old male homozygous for the prothrombin G20210A mutation combined with protein S deficiency and increased lipoprotein (a). (11864707)
2002
22
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. (11241228)
2001
23
The G20210A prothrombin polymorphism is not associated with increased thromboembolic risk in a large protein C deficient kindred. (10744139)
2000
24
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. (11154146)
2000
25
The A20210 allele in the prothrombin gene enhances the risk of venous thrombosis in carriers of inherited protein S deficiency. (10847418)
2000
26
Factor V Leiden mutation, prothrombin gene mutation, and deficiencies in coagulation inhibitors associated with Budd-Chiari syndrome and portal vein thrombosis: results of a case-control study. (11001884)
2000
27
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. (10706027)
1999
28
The A20210 allele of the prothrombin gene is frequently associated with the factor V Arg 506 to Gln mutation but not with protein S deficiency in thrombophilic families. (9490712)
1998
29
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. (9636196)
1998
30
Prothrombin deficiency results in embryonic and neonatal lethality in mice. (9636195)
1998
31
Elevated levels of prothrombin activation fragment 1 + 2 in plasma from patients with heterozygous Arg506 to Gln mutation in the factor V gene (APC-resistance) and/or inherited protein S deficiency. (8815575)
1996
32
Increased prothrombin activation in protein S-deficient plasma under flow conditions on endothelial cell matrix: an independent anticoagulant function of protein S in plasma. (7703488)
1995
33
Evaluation of a prothrombin time optimized for the dog on plasmas with defined coagulation factor deficiency due to coumarin intoxication. (8822195)
1995
34
Prothrombin fragment 1 + 2, thrombin-antithrombin III-complexes and fibrinopeptide A in spontaneously clotting whole blood in vitro. Effects of heparin addition and antithrombin III deficiency. (8165646)
1994
35
Prothrombin times on deficient plasma reconstituted with factors IX and X. (7942796)
1994
36
Paradoxic effect of multiple mild coagulation factor deficiencies on the prothrombin time and activated partial thromboplastin time. (8356955)
1993
37
Detection of the carrier state in congenital &quot;true&quot; prothrombin deficiency. (3354565)
1988
38
Acute myocardial infarction during treatment with an activated prothrombin complex concentrate in a patient with factor VIII deficiency and a factor VIII inhibitor. (3135752)
1988
39
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. (3115223)
1987
40
Prothrombin deficiency in a cocker spaniel. (6980872)
1982
41
Prothrombin Molise: a &quot;new&quot; congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and &quot;true&quot; prothrombin deficiency. (418829)
1978
42
Hereditary prothrombin deficiency. (4982446)
1970
43
Prothrombin in factor X deficiency. (5460666)
1970
44
Severe isolated prothrombin deficiency: an acquired state with complete recovery. (13962584)
1962
45
Prothrombin deficiency of the newborn. (18129082)
1949
46
The nature of the prothrombin deficiency in dicoumarin plasma. (18130447)
1949
47
Prothrombin Deficiency in Disease of the Liver and Bile Passages, and its Treatment with Synthetic Vitamin K. (20783619)
1941
48
PROTHROMBIN DEFICIENCY AND THE EFFECTS OF VITAMIN K IN OBSTRUCTIVE JAUNDICE AND BILIARY FISTULA. (17857347)
1939
49
BLEEDING TENDENCY AND PROTHROMBIN DEFICIENCY IN BILIARY FISTULA DOGS: EFFECT OF FEEDING BILE AND VITAMIN K. (19870764)
1938
50
PROTHROMBIN DEFICIENCY THE CAUSE OF BLEEDING IN BILE FISTULA DOGS. (19870504)
1936

Genetic Variations for Prothrombin Deficiency

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Prothrombin Deficiency:

62
id Symbol AA change Variation ID SNP ID
1F2p.Glu200LysVAR_006711rs62623459
2F2p.Arg314CysVAR_006712
3F2p.Arg314HisVAR_006713
4F2p.Met380ThrVAR_006714
5F2p.Arg425CysVAR_006715
6F2p.Arg431HisVAR_006716
7F2p.Arg461TrpVAR_006717
8F2p.Glu509AlaVAR_006718
9F2p.Gly601ValVAR_006719
10F2p.Glu72GlyVAR_055232

Expression for genes affiliated with Prothrombin Deficiency

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Prothrombin Deficiency

Search GEO for disease gene expression data for Prothrombin Deficiency.

Pathways for genes affiliated with Prothrombin Deficiency

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Sources:
53Reactome, 51QIAGEN, 37NCBI BioSystems Database, 52R&D Systems, 29KEGG, 49PharmGKB
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Compounds for genes affiliated with Prothrombin Deficiency

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 2BitterDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Prothrombin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.1F9
2brodifacoum449.7F2, F3
3aprosulate449.7F3, F2
4napsagatran449.7F3, F2
5hemochron449.7F3, F2
6certoparin449.7F2, F3
7appt449.7F3, F2
8inogatran449.7F3, F2
9heparin sodium449.7F3, F2
10dextran 70449.7F3, F2
11ecarin449.7F2, F3
12polybrene449.7F3, F2
13spectrozyme449.7F3, F2
14hepaplastin449.6F2, F3
15s-warfarin449.6F2, F3
16danaparoid449.6F3, F2
17rivaroxaban44 1110.6F2, F3
18ximelagatran44 1110.6F2, F3
19vitamin k144 2410.6F2, F3
20heparinoids449.6F2, F3
21aprotinin44 1110.5F3, F9
22bivalirudin44 1110.5F3, F2
23hydroxyethyl starch449.5F3, F2
24argatroban44 1110.4F3, F2
25mononine449.4F9, F2
26ppack449.4F3, F2
27Gamma-Carboxy-Glutamic Acid119.4F2, F9
28protamine sulfate449.3F3, F2
29tirofiban44 1110.3F2, F3
30deae449.2F9, F2
31kaolin449.0F9, F2, F3
32organon449.0F9, F3, F2
33fondaparinux449.0F3, F2, F9
34acenocoumarol44 49 1111.0F2, F9, F3
35coumarins449.0F2, F3, F9
36phenprocoumon44 49 1110.9F3, F2, F9
37tranexamic acid44 119.9F9, F3, F2
38epsilon aminocaproic acid448.9F2, F9, F3
39ristocetin448.9F2, F9, F3
40gamma-carboxyglutamic acid448.9F2, F3, F9
41coumarin44 2 49 2411.9F9, F3, F2
42desmopressin44 59 28 1111.9F3, F9, F2
43hirudin448.9F9, F2, F3
44dermatan sulfate448.9F2, F3, F9
45kininogen448.9F2, F3, F9
46homocysteine44 249.9F3, F9, F2
47citrate448.8F3, F2, F9
48phosphatidylserine44 28 1110.8F3, F2, F9
49fibrinogen448.4F3, F9, F2
50phospholipid448.2F2, F3, F9

GO Terms for genes affiliated with Prothrombin Deficiency

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16Gene Ontology
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Cellular components related to Prothrombin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulum lumenGO:0057889.0F2, F9
2Golgi lumenGO:0057968.7F2, F9

Biological processes related to Prothrombin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1blood coagulation, extrinsic pathwayGO:0075989.2F3, F9
2peptidyl-glutamic acid carboxylationGO:0171879.0F2, F9
3post-translational protein modificationGO:0436879.0F2, F9
4blood coagulation, intrinsic pathwayGO:0075978.9F9, F2
5blood coagulationGO:0075968.2F2, F3, F9

Molecular functions related to Prothrombin Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0F2, F9

Products for genes affiliated with Prothrombin Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prothrombin Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet