MCID: PRT012
MIFTS: 46

Prothrombin Deficiency malady

Blood category

Summaries for Prothrombin Deficiency

Sources:
21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
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 hepatitis a 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 factor ix,recombinant and vitamin k 3 and the compounds warfarin and aprosulate have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and brain.

Wikipedia:64 Hypoprothrombinemia is a blood disorder in which a deficiency of prothrombin (Factor II) results in... more...

Description from OMIM:47 613679

Aliases & Classifications for Prothrombin Deficiency

Sources:
8Disease Ontology, 20GeneTests, 21Genetics Home Reference, 49Orphanet, 47OMIM, 61UMLS, 45Novoseek, 40NCIt, 35MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
prothrombin deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

prothrombin deficiency 8 20 21 49
hypoprothrombinemia 8 21 47 49
factor ii deficiency 21 61
dysprothrombinemia 21 49
hereditary factor ii deficiency disease 61
congenital factor ii deficiency 49
inherited factor ii deficiency 61
hypoprothrombinemias 45


External Ids:

Disease Ontology8 DOID:2235
NCIt40 C26799
MeSH35 D007020
SNOMED-CT57 191283001, 73975000
OMIM47 613679
ICD10 via Orphanet26 D68.2

Related Diseases for Prothrombin Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 66)
idRelated DiseaseScoreTop Affiliating Genes
1hepatitis a30.0F2
2arthropathy30.0F9
3antiphospholipid syndrome30.0F3, F2
4hepatitis c30.0F2, F9
5hepatitis b29.9F9, F2
6thrombocytopenia29.9F9, F3, F2
7hepatitis d10.2
8acquired hypoprothrombinemia10.2
9systemic lupus erythematosus10.1
10obstructive jaundice10.0
11hepatitis e10.0
12inherited hypoprothrombinemia10.0
13follicular lymphoma10.0
14thrombasthenia10.0
15catastrophic antiphospholipid syndrome10.0
16hypervitaminosis d10.0
17megaloblastic anemia10.0
18granulocytopenia10.0
19factor xii deficiency10.0F3
20liver cirrhosis10.0F2
21portal vein thrombosis10.0F2
22respiratory failure10.0F3
23atherosclerosis10.0F3
24hemorrhagic disease10.0F9
25sickle cell disease10.0F9
26hypercholesterolemia10.0F9
27nephrotic syndrome10.0F9
28hypothyroidism10.0F9
29stroke, ischemic10.0F3
30cystic fibrosis10.0F9
31viral hepatitis10.0F2
32factor v deficiency10.0F2, F3
33vitamin k deficiency hemorrhagic disease10.0F3, F2
34protein s deficiency10.0F3, F2
35afibrinogenemia10.0F2, F3
36pregnancy loss10.0F2, F3
37thrombocytosis10.0F3, F2
38primary hyperoxaluria10.0F2, F3
39galactosemia10.0F3, F2
40hemarthrosis10.0F3, F9
41leukopenia10.0F2, F3
42congenital heart defect10.0F3, F2
43glanzmann's thrombasthenia10.0F3, F9
44protein c deficiency10.0F9, F2
45hyperhomocysteinemia10.0F2, F9
46myocardial infarction10.0F3, F9
47bernard-soulier syndrome10.0F2, F9
48bilirubin metabolic disorder10.0F9, F2
49connective tissue disease10.0F2, F3
50coronary artery disease,10.0F3, F9

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



Diseases related to prothrombin deficiency

Clinical Features for Prothrombin Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

613679

Clinical synopsis from OMIM:

613679

Drugs & Therapeutics for Prothrombin Deficiency

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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 UMLS61/NDF-RT41:

Genetic Tests for Prothrombin Deficiency

Sources:
20GeneTests
See all sources

Genetic tests related to Prothrombin Deficiency:

id Genetic test Affiliating Genes
1 Prothrombin Deficiency20 F2

Anatomical Context for Prothrombin Deficiency

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Prothrombin Deficiency:

33
Skin, Liver, Brain, Whole blood

Animal Models for Prothrombin Deficiency or affiliated genes

Sources:
28inGenious Targeting Laboratory
See all sources

Publications for Prothrombin Deficiency

Sources:
51PubMed
See all sources

Articles related to Prothrombin Deficiency:

(show top 50)    (show all 74)
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
Congenital prothrombin deficiency: an update. (23852823)
2013
4
Prothrombin Mumbai causes severe prothrombin deficiency due to a novel Cys90Ser mutation. (22392504)
2012
5
Prophylaxis in severe prothrombin deficiency. (20950404)
2011
6
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
7
Hereditary prothrombin deficiency. (19750864)
2009
8
Congenital prothrombin deficiency. (19598065)
2009
9
Prophylaxis with prothrombin complex concentrate in four children with severe congenital factor X deficiency. (19149864)
2009
10
True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). (18852482)
2008
11
Prothrombin deficiency caused by compound heterozygosity for two novel mutations in the prothrombin gene associated with a bleeding tendency. (16543981)
2006
12
The feasibility of total ankle prosthesis for severe arthropathy in haemophilia and prothrombin deficiency. (17083522)
2006
13
Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --&gt; Thr (Prothrombin Vellore 1) mutation. (15892853)
2005
14
No effect of the prothrombin G20210A mutation on protein C activation in a large kindred with type I protein C deficiency. (15389124)
2004
15
Combined deficiency of protease-activated receptor-4 and fibrinogen recapitulates the hemostatic defect but not the embryonic lethality of prothrombin deficiency. (14504091)
2004
16
Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). (15284583)
2004
17
Mesenteric venous thrombosis in a patient with prothrombin 20210A mutation and antithrombin III deficiency: challenges to conventional anticoagulation--a case report. (12894373)
2003
18
Prothrombin deficiency resulted from a homozygous Glu29 to Gly mutation in the prothrombin gene]. (14575584)
2003
19
Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency. (12574802)
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
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
23
Identification and three-dimensional structural analysis of nine novel mutations in patients with prothrombin deficiency. (11154146)
2000
24
The A20210 allele in the prothrombin gene enhances the risk of venous thrombosis in carriers of inherited protein S deficiency. (10847418)
2000
25
Hereditary prothrombin deficiency presenting as intracranial haematoma in infancy. (10706027)
1999
26
Mesenteric infarction due to combined protein C deficiency and prothrombin 20210 defects. (10567604)
1999
27
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
28
Incomplete embryonic lethality and fatal neonatal hemorrhage caused by prothrombin deficiency in mice. (9636196)
1998
29
Prothrombin deficiency results in embryonic and neonatal lethality in mice. (9636195)
1998
30
Prothrombin deficiency and hemorrhage associated with a lupus anticoagulant. (8980268)
1997
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
Evaluation of a prothrombin time optimized for the dog on plasmas with defined coagulation factor deficiency due to coumarin intoxication. (8822195)
1995
33
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
34
Transient lupus anticoagulant associated with prothrombin deficiency: unusual cause of bleeding in a 5-year-old girl. (7978060)
1994
35
Detection of the carrier state in congenital &quot;true&quot; prothrombin deficiency. (3354565)
1988
36
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
37
Concurrent lupus anticoagulants and prothrombin deficiency due to phenytoin use. (3115223)
1987
38
Abnormal formation of the prothrombinase complex: factor V deficiency and related disorders. (3804320)
1987
39
Prothrombin deficiency in a cocker spaniel. (6980872)
1982
40
Prothrombin Molise: a &quot;new&quot; congenital dysprothrombinemia, double heterozygosis with an abnormal prothrombin and &quot;true&quot; prothrombin deficiency. (418829)
1978
41
Bleeding disorder in an infant associated with anicteric hepatitis. Acquired prothrombin deficiency. (4434662)
1974
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

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Prothrombin Deficiency:

63
id Symbol AA change Variation 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

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 52QIAGEN, 38NCBI BioSystems Database, 53R&D Systems, 30KEGG, 50PharmGKB
See all sources

Compounds for genes affiliated with Prothrombin Deficiency

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 60Tocris Bioscience, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Prothrombin Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 69)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.1F9
2aprosulate459.7F3, F2
3napsagatran459.7F3, F2
4brodifacoum459.7F3, F2
5hemochron459.7F3, F2
6certoparin459.7F3, F2
7appt459.7F3, F2
8heparin sodium459.7F3, F2
9inogatran459.7F3, F2
10ecarin459.7F3, F2
11dextran 70459.7F3, F2
12polybrene459.7F3, F2
13spectrozyme459.7F3, F2
14s-warfarin459.6F3, F2
15danaparoid459.6F3, F2
16hepaplastin459.6F3, F2
17rivaroxaban45 1110.6F3, F2
18ximelagatran45 1110.6F3, F2
19vitamin k145 2410.6F3, F2
20heparinoids459.6F3, F2
21aprotinin45 1110.5F3, F9
22bivalirudin45 1110.5F2, F3
23argatroban45 1110.5F3, F2
24hydroxyethyl starch459.4F3, F2
25mononine459.4F9, F2
26Gamma-Carboxy-Glutamic Acid119.4F9, F2
27ppack459.4F2, F3
28protamine sulfate459.3F2, F3
29tirofiban45 1110.3F2, F3
30deae459.2F2, F9
31organon459.0F2, F3, F9
32kaolin459.0F2, F3, F9
33fondaparinux459.0F9, F3, F2
34acenocoumarol45 50 1111.0F2, F3, F9
35coumarins459.0F9, F3, F2
36phenprocoumon45 50 1110.9F9, F3, F2
37tranexamic acid45 119.9F2, F3, F9
38epsilon aminocaproic acid458.9F9, F3, F2
39ristocetin458.9F2, F3, F9
40gamma-carboxyglutamic acid458.9F9, F3, F2
41desmopressin45 60 29 1111.9F2, F3, F9
42coumarin45 2 50 2411.9F2, F3, F9
43hirudin458.9F9, F3, F2
44dermatan sulfate458.9F2, F3, F9
45kininogen458.9F9, F3, F2
46homocysteine45 249.9F2, F3, F9
47citrate458.8F2, F3, F9
48phosphatidylserine45 29 1110.8F2, F3, F9
49fibrinogen458.4F9, F3, F2
50phospholipid458.2F2, F3, F9

GO Terms for genes affiliated with Prothrombin Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Prothrombin Deficiency

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet