MCID: FCT003
MIFTS: 64

Factor X Deficiency malady

Blood diseases category

Summaries for Factor X Deficiency

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Factor X, also known by the eponym Stuart-Prower factor or as prothrombinase, thrombokinase or... more...

MalaCards: Factor X Deficiency, also known as stuart-prower factor deficiency, is related to amyloidosis and prothrombin deficiency. An important gene associated with Factor X Deficiency is F10 (coagulation factor X), and among its related pathways are PTM: gamma carboxylation, hypusine formation and arylsulfatase activation and Asparagine N-linked glycosylation. The compounds warfarin and heparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and myeloid, and related mouse phenotypes are cardiovascular system and mortality/aging.

Description from OMIM:46 227600

Aliases & Classifications for Factor X Deficiency

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 48Orphanet, 34MeSH, 56SNOMED-CT, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
stuart-prower factor deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

factor x deficiency 8 9 42 20 22 46 10 44 60
stuart-prower factor deficiency 42 48
stuart factor deficiency, congenital 42
congenital stuart factor deficiency 48
factor x deficiency, congenital 42
congenital factor x deficiency 48
disease, stuart-prower 8
f10 deficiency 42


External Ids:

Disease Ontology8 DOID:2222
MeSH34 D005171
SNOMED-CT via Orphanet57 76642003
SNOMED-CT56 76642003
OMIM46 227600
ICD10 via Orphanet26 D68.2

Related Diseases for Factor X Deficiency

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

(show top 50)    (show all 109)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2F10, F9
2prothrombin deficiency30.4F5, F2
3nephrotic syndrome30.2F9
4disseminated intravascular coagulation30.2F9, F5, F10, F7, F3, F2
5peritonitis30.0F2
6hemarthrosis30.0F9, F10, F3
7hepatitis30.0F9, F10, F2
8antiphospholipid syndrome29.9F2, F3, F10, F5
9factor vii deficiency29.9F9, F5, F10, F7, F3, F2
10thrombophilia29.9F9, F5, F10, F7, F3, F2
11burns10.2
12acute leukemia10.2
13leukemia10.2
14acute liver failure10.0
15mitral valve prolapse10.0
16membranoproliferative glomerulonephritis10.0
17hypertrophic cardiomyopathy10.0
18familial hypertrophic cardiomyopathy10.0
19metabolic syndrome x10.0
20congenital intrinsic factor deficiency10.0
21familial hypercholesterolemia10.0
22glomerulonephritis10.0
23lipoma10.0
24myeloma10.0
25osteomyelitis10.0
26pneumonia10.0
27spindle cell thymoma10.0
28thymoma10.0
29hemophilia10.0
30sickle cell disease10.0F9
31ischemia10.0F10
32arthropathy10.0F9
33hepatitis a10.0F2
34endocarditis10.0F10
35cystic fibrosis10.0F9
36obesity10.0F7
37warfarin sensitivity10.0F9
38hypothyroidism10.0F9
39respiratory failure10.0F3
40carotid artery thrombosis10.0F3
41cholestasis10.0F2
42coronary thrombosis10.0F3
43liver cirrhosis10.0F2
44purpura fulminans10.0F5
45retinal vein occlusion10.0F5
46ovarian hyperstimulation syndrome10.0F5
47hellp syndrome10.0F5
48sagittal sinus thrombosis10.0F5
49homocysteinemia10.0F5
50central retinal vein occlusion10.0F5

Graphical network of the top 20 diseases related to Factor X Deficiency:



Diseases related to factor x deficiency

Clinical Features for Factor X Deficiency

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Sources:
46OMIM
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Clinical features from OMIM:

227600

Clinical synopsis from OMIM:

227600

Drugs & Therapeutics for Factor X Deficiency

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

Search CenterWatch for Factor X Deficiency

Drug clinical trials:

Search ClinicalTrials for Factor X Deficiency

Search NIH Clinical Center for Factor X Deficiency

Search CenterWatch for Factor X Deficiency

Genetic Tests for Factor X Deficiency

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Factor X Deficiency:

id Genetic test Affiliating Genes
1 Factor X Deficiency20 22 F10

Anatomical Context for Factor X Deficiency

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32MalaCards
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MalaCards organs/tissues related to Factor X Deficiency:

32
Testes, Liver, Myeloid

Animal Models for Factor X Deficiency or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Factor X Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8F2, F3, F7, F10, F9
2MP:00107687.1F9, F5, F7, F3, F2, F10
3MP:00053766.8F3, F7, F10, F5, F2, F9

Publications for Factor X Deficiency

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50PubMed
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Articles related to Factor X Deficiency:

(show top 50)    (show all 213)
idTitleAuthorsYear
1
Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection. (23463452)
2013
2
Six novel missense mutations causing factor X deficiency and application of thrombin generation test. (23664564)
2013
3
Factor X deficiency: an uncommon presentation of AL amyloidosis. (22651249)
2012
4
Acquired-transient factor X deficiency in a teenager with extensive burns. (22707501)
2011
5
Membranoproliferative glomerulonephritis and a rare bleeding disorder: Factor X deficiency. (20859684)
2011
6
Factor X deficiency presenting with bilateral chronic subdural hematoma. (20516741)
2010
7
Molecular basis of factor X deficiency cases from India. (20331754)
2010
8
Different genotypes are responsible for the normal Russell viper venom assays seen in some cases of congenital factor X deficiency. (18785643)
2008
9
Report on a disease-adapted treatment in a patient with severe factor X deficiency resulting from a homozygous factor X gene mutation. (18217161)
2008
10
Congenital factor X deficiencies with a defect only or predominantly in the extrinsic or in the intrinsic system: a critical evaluation. (18506702)
2008
11
An analysis of 8 cases of factor X deficiency. (23100936)
2008
12
Hereditary coagulation factor X deficiency--a clinico-haematological profile of 5 cases from Varanasi. (16295492)
2004
13
Rare Bleeding Disorder Registry: deficiencies of factors II, V, VII, X, XIII, fibrinogen and dysfibrinogenemias. (14995986)
2004
14
A rare inherited coagulation disorder: combined homozygous factor VII and factor X deficiency. (15307115)
2004
15
Presurgical plasma exchange is ineffective in correcting amyloid associated factor X deficiency. (15597349)
2004
16
Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analysis with an intragenic single nucleotide polymorphism. (12813758)
2003
17
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. (12028042)
2002
18
Thromboplastin-thrombomodulin-mediated time: a new global test sensitive to protein S deficiency and increased levels of factors II, V, VII and X. (11940486)
2002
19
Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. (11238135)
2001
20
Danazol therapy in factor X deficiency. (11554940)
2001
21
Factor X deficiency and hemophilia A : occurrence of two different coagulation defects in a family. (11224586)
2001
22
A rare cause of intracranial hemorrhage: factor X deficiency. (11673712)
2001
23
Factor X deficiency: an unusual cause for spontaneous intracranial bleeding. (10869148)
2000
24
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). (10468877)
1999
25
Successful treatment of transient acquired factor X deficiency by plasmapheresis with concomitant intravenous immunoglobulin and steroid therapy. (9495379)
1998
26
A functional factor X deficiency. (7832186)
1995
27
Molecular bases of CRM+ factor X deficiency: a frequent mutation (Ser334Pro) in the catalytic domain and a substitution (Glu102Lys) in the second EGF-like domain. (7669671)
1995
28
Purified X2 binding protein (X2BP) cooperatively binds the class II MHC X box region in the presence of purified RFX, the X box factor deficient in the bare lymphocyte syndrome. (7594590)
1995
29
Antibody-induced acute factor X deficiency: clinical manifestations and properties of the antibody. (7855785)
1994
30
Prothrombin times on deficient plasma reconstituted with factors IX and X. (7942796)
1994
31
Severe factor X deficiency and successful pregnancy. (7999698)
1994
32
Comparison of basic fibroblast growth factor in X-linked dystrophin-deficient myopathies of human, dog and mouse. (8217214)
1993
33
Recurrent, isolated factor X deficiency in myeloma: repeated normalization of factor X levels after cytostatic chemotherapy followed by late treatment failure associated with the development of systemic amyloidosis. (1287879)
1992
34
Neonatal congenital Factor X deficiency. (1782113)
1991
35
Partial gene deletion in a family with factor X deficiency. (2567188)
1989
36
Acquired factor X deficiency and amyloidosis treated with melphalan and prednisone. (3657882)
1987
37
Acquired factor X deficiency in systemic amyloidosis. (3665021)
1987
38
Prolongation of thrombin and reptilase times in patients with amyloidosis and acquired factor X deficiency. (6372111)
1984
39
Antithrombin III deficiency in a Romanian family. Pathogenic role of concomitantly increased plasma level of clotting factors VII and X. (6710043)
1984
40
Transient, selective factor X deficiency and acute liver failure following chest infection treated with erythromycin BP. (6622343)
1983
41
Resolution of factor X deficiency in primary amyloidosis following splenectomy. (6830397)
1983
42
Amyloidosis and factor X deficiency. (7038886)
1982
43
Congenital factor X deficiency and incomplete transverse paralysis. (7277652)
1981
44
Congenital factor X deficiency in Japan. (7233424)
1981
45
Factor X deficiency in primary amyloidosis. (7360188)
1980
46
Hemorrhagic diathesis caused by factor X deficiency in a child with thymic cyst. (7208094)
1980
47
Isolated factor X deficiency in amyloidosis. Case report and review of the literature. (1101084)
1975
48
Amyloidosis with factor X deficiency. (4650132)
1972
49
Therapeutic approaches to factor X deficiency with emphasis on the use of a new clotting-factor concentrate (Konyne). (5540427)
1971
50
Mode of inheritance of factor X deficiency. (5874835)
1965

Genetic Variations for Factor X Deficiency

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

62 (show all 24)
id Symbol AA change Variation ID SNP ID
1F10p.Glu47GlyVAR_065428
2F10p.Gly51ValVAR_065429
3F10p.Glu54GlyVAR_065430
4F10p.Glu54LysVAR_065431
5F10p.Glu72GlnVAR_065432
6F10p.Glu91LysVAR_065433
7F10p.Cys149TyrVAR_065435
8F10p.Cys151TyrVAR_065436
9F10p.Gly289ArgVAR_065437
10F10p.Glu304LysVAR_065438
11F10p.Asp322AsnVAR_065439
12F10p.Arg327TrpVAR_065440
13F10p.Val338MetVAR_065441
14F10p.Glu350LysVAR_065442
15F10p.Thr358MetVAR_065443
16F10p.Gly363SerVAR_065444
17F10p.Arg366CysVAR_065445
18F10p.Ser374ProVAR_065446
19F10p.Pro383SerVAR_065447
20F10p.Cys390PheVAR_065448rs199778916
21F10p.Cys404ArgVAR_065449
22F10p.Gly406SerVAR_065450
23F10p.Gly420ArgVAR_065451
24F10p.Lys448AsnVAR_065452

Expression for genes affiliated with Factor X Deficiency

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

Search GEO for disease gene expression data for Factor X Deficiency.

Pathways for genes affiliated with Factor X Deficiency

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

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

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.5F9
2heparin44 28 11 2412.5F9, F10
3Gamma-Carboxy-Glutamic Acid119.4F2, F9, F10
4coumarins449.4F10, F9, F3
5aspartate449.4F7, F2, F10
6Coagulation Factor IX119.3F10, F7, F2
7Coagulation factor VIIa119.2F3, F10, F7
8rivaroxaban44 1110.2F3, F10, F2
9rfviii449.1F9, F5, F10
10ppack449.1F2, F10, F3
11phenprocoumon44 49 1111.1F3, F9, F2
12tranexamic acid44 1110.0F9, F3, F2
13ancrod449.0F2, F5, F10
14tirofiban44 1110.0F2, F10, F3
15organon448.9F10, F9, F3, F2
16inogatran448.9F3, F2, F5
17menadione44 11 2410.8F9, F10, F7, F2
18aprotinin44 119.6F9, F5, F10, F3
19cacl2448.6F9, F5, F10, F3
20ecarin448.5F3, F2, F10, F5
21spectrozyme448.5F2, F5, F10, F3
22danaparoid448.5F2, F10, F5, F3
23ximelagatran44 119.5F10, F5, F2, F3
24heparinoids448.5F2, F3, F10, F5
25bivalirudin44 119.5F3, F10, F5, F2
26argatroban44 119.5F10, F5, F2, F3
27protamine sulfate448.5F5, F10, F2, F3
28acetaminophen44 2 49 11 2412.5F5, F2, F10, F9
29benzamidine44 119.5F9, F10, F5
30dextran sulfate448.5F9, F5, F10, F3
31acenocoumarol44 49 1110.5F2, F3, F5, F9
32cardiolipin44 119.4F5, F10, F3, F2
33ristocetin448.4F2, F3, F5, F9
34protamine448.4F5, F2, F10, F3
35desmopressin44 59 28 1111.4F5, F3, F2, F9
36levonorgestrel44 59 28 1111.4F5, F7, F3, F2
37homocysteine44 249.2F2, F3, F9, F5
38simvastatin44 49 59 28 11 2413.1F5, F3, F2, F10
39fondaparinux448.1F2, F10, F5, F3, F9
40kaolin448.1F2, F3, F9, F5, F10
41coumarin44 2 49 2411.1F9, F5, F10, F2, F3
42hirudin448.1F2, F9, F5, F10, F3
43dermatan sulfate448.1F9, F2, F5, F3, F10
44citrate448.0F9, F10, F3, F5, F2
45phosphatidylserine44 28 1110.0F2, F9, F10, F5, F3
46kininogen447.9F7, F2, F5, F9, F3
47phospholipid447.9F3, F2, F9, F5, F10
48gamma-carboxyglutamic acid447.6F2, F5, F9, F10, F7, F3
49creatinine447.5F2, F7, F5, F3, F9
50fibrinogen447.5F5, F9, F10, F2, F3, F7

GO Terms for genes affiliated with Factor X Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic to external side of plasma membraneGO:0312339.4F3, F10
2Golgi lumenGO:0057968.7F2, F7, F10, F9
3endoplasmic reticulum lumenGO:0057888.6F9, F10, F7, F2
4extracellular spaceGO:0056158.0F2, F3, F7, F5
5extracellular regionGO:0055767.6F9, F5, F10, F7, F2
6plasma membraneGO:0058866.8F9, F5, F10, F7, F3, F2

Biological processes related to Factor X Deficiency according to GeneCards/GeneDecks:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:0106419.5F3, F7
2positive regulation of blood coagulationGO:0301949.4F2, F7
3blood coagulation, intrinsic pathwayGO:0075979.3F2, F10, F9
4positive regulation of protein kinase B signaling cascadeGO:0518979.0F10, F7, F3
5positive regulation of positive chemotaxisGO:0509279.0F3, F7
6positive regulation of cell migrationGO:0303358.9F10, F7, F3
7peptidyl-glutamic acid carboxylationGO:0171878.8F9, F10, F7, F2
8post-translational protein modificationGO:0436878.7F9, F10, F7, F2
9blood coagulation, extrinsic pathwayGO:0075988.7F3, F7, F10, F9
10proteolysisGO:0065088.6F2, F7, F10, F9
11cellular protein metabolic processGO:0442678.5F2, F7, F10, F9
12blood coagulationGO:0075967.3F9, F5, F10, F7, F3, F2

Molecular functions related to Factor X Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1calcium ion bindingGO:0055098.6F2, F7, F10, F9
2serine-type endopeptidase activityGO:0042528.3F2, F7, F10, F9

Products for genes affiliated with Factor X Deficiency

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor X 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