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 whole blood.

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, Whole blood, Skin, 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
Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. (23152198)
2013
2
Two novel mutations in the prothrombin gene identified in a patient with compound heterozygous type 1/2 prothrombin deficiency. (23711336)
2013
3
Prophylaxis in severe prothrombin deficiency. (20950404)
2011
4
The clinical significance of the lack of arterial or venous thrombosis in patients with congenital prothrombin or FX deficiency. (19412729)
2010
5
Hereditary prothrombin deficiency. (19750864)
2009
6
Congenital prothrombin deficiency. (19598065)
2009
7
The prevalence of factor V Leiden, prothrombin G20210A and methylenetetrahydrofolate reductase polymorphism C677T among G6PD deficient individuals from Western Iran. (19219640)
2009
8
Acquired prothrombin deficiency in a patient with follicular lymphoma. (18355267)
2008
9
Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. (17002658)
2006
10
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. (17083522)
2006
11
Utility of thrombin-generation assay in the screening of factor V G1691A (Leiden) and prothrombin G20210A mutations and protein S deficiency. (16469858)
2006
12
Sensitivity of commercial prothrombin time reagents to detect coagulation factor deficiencies in equine plasma. (16427588)
2006
13
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). (15284583)
2004
14
A common mutation, Arg457--&gt;Gln, links prothrombin deficiencies in the Puerto Rican population. (14629473)
2003
15
Effects of recombinant factor VIIa on platelet function and clot structure in blood with deficient prothrombin conversion. (12719776)
2003
16
Sensitivity of different prothrombin time assays to factor VII deficiency in canine plasma. (12788020)
2003
17
Rescue of prothrombin-deficiency by transgene expression in mice. (12529749)
2002
18
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
19
Bullous hematoma of the palm: an unusual complication of scabies in a child with congenital prothrombin deficiency. (12437569)
2002
20
Internal jugular vein thrombosis following in-vitro fertilization in a woman with protein S deficiency and heterozygosity for the prothrombin 3' UTR mutation, despite anticoagulation with heparin. (11555702)
2001
21
Acquired bleeding disorder in a patient with malignant lymphoma: antibody-mediated prothrombin deficiency. (11241228)
2001
22
Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate. (11260283)
2001
23
Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. (11694407)
2001
24
Portal vein thrombosis associated to prothrombin G20210A mutation and protein C deficiency. (10898280)
2000
25
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. (11154146)
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
Mesenteric vein thrombosis secondary to combined protein C deficiency and double heterozygosity for factor V Leiden and prothrombin G20210A. (10539890)
1999
28
Mesenteric infarction due to combined protein C deficiency and prothrombin 20210 defects. (10567604)
1999
29
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
30
Ischemic stroke in a young patient with protein C deficiency and prothrombin gene mutation G20210A. (9890720)
1998
31
Congenital deficiencies and abnormalities of prothrombin. (9863703)
1998
32
Prothrombin deficiency results in embryonic and neonatal lethality in mice. (9636195)
1998
33
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. (8980268)
1997
34
Congenital blood coagulation factor X deficiency. Successful result of the use prothrombin concentrated complex in the control of ++cesarean section hemorrhage in 2 pregnancies]. (7659886)
1994
35
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. (3115223)
1987
36
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. (4434662)
1974
37
Congenital factor VII deficiency with cerebral haemorrhage treated with prothrombin concentrate. (4639968)
1972
38
Hereditary prothrombin deficiency. (4982446)
1970
39
Prothrombin in factor X deficiency. (5460666)
1970
40
Christmas disease associated with prothrombin deficiency and thrombasthenia. (5350280)
1969
41
Severe isolated prothrombin deficiency: an acquired state with complete recovery. (13962584)
1962
42
The measurement of prothrombin in plasma; a case of prothrombin deficiency. (13034913)
1953
43
CLINICO-pathological conference; diffuse nodular cirrhosis and subacute hepatitis; icterus; cerebral edema and probable prothrombin deficiency. (15434966)
1950
44
Prothrombin deficiency of the newborn. (18129082)
1949
45
The Use of Synthetic Vitamin K Substitutes in the Treatment of Prothrombin Deficiency. (20322499)
1942
46
CLINICAL SIGNIFICANCE OF PROTHROMBIN DEFICIENCY AND ITS TREATMENT. (17857921)
1941
47
HAEMORRHAGIC TENDENCY ASSOCIATED WITH PROTHROMBIN DEFICIENCY AND ITS TREATMENT WITH VITAMIN K AND BILE. (20321723)
1940
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 AND THE BLEEDING TENDENCY IN LIVER INJURY (CHLOROFORM INTOXICATION). (19870699)
1937

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