MCID: FCT003
MIFTS: 54

Factor X Deficiency malady

Blood category

Summaries for Factor X Deficiency

Sources:
64Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
Wikipedia:64 Factor X, also known by the eponym Stuart-Prower factor or as prothrombinase, is an enzyme (EC 3.4.21.6)... more...

MalaCards: Factor X Deficiency, also known as stuart-prower factor deficiency, is related to amyloidosis and factor v 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 spleen, kidney and breast, and related mouse phenotypes are cardiovascular system and mortality/aging.

Description from OMIM:47 227600

Aliases & Classifications for Factor X Deficiency

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 49Orphanet, 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
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 43 20 22 47 10 45 61
stuart-prower factor deficiency 43 49
stuart factor deficiency, congenital 43
congenital stuart factor deficiency 49
factor x deficiency, congenital 43
congenital factor x deficiency 49
disease, stuart-prower 8
f10 deficiency 43


External Ids:

Disease Ontology8 DOID:2222
MeSH35 D005171
SNOMED-CT57 76642003
OMIM47 227600
ICD10 via Orphanet26 D68.2

Related Diseases for Factor X Deficiency

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 111)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.2F10, F9
2factor v deficiency30.8F5, F3, F2
3prothrombin deficiency30.4F5, F2
4hypercholesterolemia30.0F9, F10, F7
5hemarthrosis30.0F9, F10, F3
6protein s deficiency30.0F5, F9
7protein c deficiency30.0F2, F5, F9
8antiphospholipid syndrome30.0F2, F3, F10, F5
9factor vii deficiency29.9F9, F5, F10, F7, F3, F2
10thrombophilia29.9F9, F5, F10, F7, F3, F2
11burns10.2
12n syndrome10.2
13acute leukemia10.2
14t cell deficiency10.2
15amyloidosis, secondary10.2
16acute liver failure10.0
17mitral valve prolapse10.0
18membranoproliferative glomerulonephritis10.0
19c3 deficiency10.0
20hypertrophic cardiomyopathy10.0
21familial hypertrophic cardiomyopathy10.0
22familial hypercholesterolemia10.0
23spindle cell thymoma10.0
24thymoma10.0
25hemophilia10.0
26al amyloidosis10.0
27protein r deficiency10.0
28leukemia, acute nonlymphocytic10.0
29decr deficiency10.0
30amyloidosis, renal10.0
31familial mitral valve prolapse10.0
32sickle cell disease10.0F9
33ischemia10.0F10
34nephrotic syndrome10.0F9
35arthropathy10.0F9
36hepatitis a10.0F2
37endocarditis10.0F10
38cystic fibrosis10.0F9
39obesity10.0F7
40warfarin sensitivity10.0F9
41peritonitis10.0F2
42hypothyroidism10.0F9
43respiratory failure10.0F3
44carotid artery thrombosis10.0F3
45cholestasis10.0F2
46coronary thrombosis10.0F3
47liver cirrhosis10.0F2
48purpura fulminans10.0F5
49retinal vein occlusion10.0F5
50ovarian hyperstimulation syndrome10.0F5

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



Diseases related to factor x deficiency

Clinical Features for Factor X Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

227600

Clinical synopsis from OMIM:

227600

Drugs & Therapeutics for Factor X Deficiency

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

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

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Factor X Deficiency:

33
Spleen, Kidney, Breast, Placenta, B cells

Animal Models for Factor X Deficiency or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Factor X Deficiency:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053857.8F2, F3, F7, F10, F9
2MP:00107687.1F2, F3, F7, F10, F5, F9
3MP:00053766.8F9, F5, F10, F7, F3, F2

Publications for Factor X Deficiency

Sources:
51PubMed
See all sources

Articles related to Factor X Deficiency:

(show top 50)    (show all 199)
idTitleAuthorsYear
1
Factor XIII deficiency management: a review of the literature. (24401950)
2014
2
Biology of Factor XIII and clinical manifestations of Factor XIII deficiency. (22928875)
2013
3
Recurrent Spontaneous Splenic Rupture in a Patient With Congenital Factor XIII Deficiency. (24351968)
2013
4
A child with acquired factor XIII deficiency: case report and literature review. (23607876)
2013
5
Post-infectious acute glomerulonephritis and transient coagulation factor XIII deficiency associated with acute parvovirus B19 infection in a young woman--reply. (23683879)
2013
6
Hyperfibrinolysis and acquired factor XIII deficiency in newly diagnosed pediatric malignancies. (23753026)
2013
7
Thromboelastometric detection of clotting Factor XIII deficiency in cardiac surgery patients. (23962029)
2013
8
Intracranial hemorrhage pattern in the patients with factor XIII deficiency. (24149912)
2013
9
Hemorrhagic-acquired factor XIII deficiency associated with tocilizumab for treatment of rheumatoid arthritis. (23070535)
2012
10
Acute Abdomen in a Young Girl with Factor XIII Deficiency Perianesthetic Issues. (23543997)
2012
11
Corifacta8c/FibrogamminAr P in the prophylactic treatment of hereditary factor XIII deficiency: results of a prospective, multicenter, open-label study. (23439001)
2012
12
Induction of hemodialysis therapy in a case with factor XIII deficiency. (21710188)
2011
13
Factor XIII deficiency as a potential cause of supratentorial haemorrhage after posterior fossa surgery. (19557304)
2010
14
Spontaneous regression of the inhibitor against the coagulation factor XIII A subunit in acquired factor XIII deficiency. (20941461)
2010
15
Spinal anaesthesia and caesarean section in a patient with hypofibrinogenaemia and factor XIII deficiency. (20345422)
2010
16
Subgaleal hematoma presenting as a manifestation of Factor XIII deficiency. (19255750)
2009
17
Factor XIII deficiency: a differential diagnosis to be considered in suspected nonaccidental injury presenting with intracranial hemorrhage. (18057145)
2008
18
Management of acute myocardial infarction in a patient with factor XIII deficiency using prophylactic factor replacement therapy. (17961171)
2008
19
Factor XIII deficiency. (19141159)
2008
20
Phenotype-genotype correlation in eight Polish patients with inherited Factor XIII deficiency: identification of three novel mutations. (17880458)
2007
21
Congenital factor XIII deficiency in Switzerland: from the worldwide first case in 1960 to its molecular characterisation in 2005. (17594539)
2007
22
A novel compound heterozygous mutation in the F13A gene causing hereditary factor XIII deficiency in a Chinese family. (16409483)
2006
23
Factor XIII deficiency causes cardiac rupture, impairs wound healing, and aggravates cardiac remodeling in mice with myocardial infarction. (16505171)
2006
24
Phenotype-genotype characterization of 10 families with severe a subunit factor XIII deficiency. (14695539)
2004
25
Seven novel mutations in the factor XIII A-subunit gene causing hereditary factor XIII deficiency in 10 unrelated families. (15456491)
2004
26
Factor XIII deficiency associated with valproate treatment. (14738427)
2004
27
Factor XIII deficiency mistaken for battered child syndrome: case of "correct" test ordering negated by a commonly accepted qualitative test with limited negative predictive value. (12447966)
2002
28
Bleeding risk and reproductive capacity among patients with factor XIII deficiency: a case presentation and review of the literature. (10674253)
2000
29
Factor XIII deficiency due to a Leu660Pro mutation in the factor XIII subunit-a gene in three unrelated Palestinian Arab families. (9241732)
1997
30
Gene defects in congenital factor XIII deficiency. (8989822)
1996
31
Congenital factor XIII deficiency. (8005932)
1993
32
Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency. (7918041)
1993
33
Combined hereditary factor XI (plasma thromboplastin antecedent) deficiency, von Willebrand's disease, and xeroderma pigmentosum in a Japanese family. (8266918)
1993
34
Factor XIII-deficiency in the blood of venous leg ulcer patients. (1676216)
1991
35
Factor XIII subunit B deficiency. (2094340)
1990
36
Congenital factor XIII deficiency with treatment of factor XIII concentrate and normal vaginal delivery. (2358199)
1990
37
Clinical experience with a pasteurised human plasma concentrate in factor XIII deficiency. (3388293)
1988
38
Successful pregnancy in a woman with congenital factor XIII deficiency treated with substitutive therapy. Report of a second case. (3607295)
1987
39
Hereditary factor XIII deficiency. (3679479)
1987
40
A contribution to the pathology of acquired plasma factor XIII deficiency. (4071061)
1985
41
Acquired factor XIII deficiency with chronic myelomonocytic leukemia. (6579877)
1983
42
Factor XIII deficiency associated with Klippel-Weber disease, platelet dysfunction and cryofibrinogenemia. (6305083)
1983
43
A case of factor XIII deficiency in an adult male. (7130118)
1982
44
Factor XIII deficiency. (7337960)
1981
45
Fibrin cross-linking in congenital factor XIII deficiency. (7400341)
1980
46
Factor XIII deficiency in BALB/c mice with plasmacytoma. (908006)
1977
47
Proceedings: Factor XIII concentrate in the long term management of congenital factor XIII deficiency. (810913)
1975
48
A clinical and family study of factor XIII deficiency in a New Zealand family. (5284554)
1971
49
Congenital factor XIII deficiency. Report of 2 cases. (5271545)
1969
50
Treatment of factor XIII deficiency with cryoprecipitate. (5710469)
1968

Genetic Variations for Factor X Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Factor X Deficiency:

63 (show all 24)
id Symbol AA change Variation 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

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

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

Compounds for genes affiliated with Factor X Deficiency

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

Compounds related to Factor X Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 122)
idCompoundScoreTop Affiliating Genes
1warfarin45 50 11 2413.5F9
2heparin45 29 11 2412.5F9, F10
3Gamma-Carboxy-Glutamic Acid119.4F2, F9, F10
4coumarins459.4F10, F9, F3
5aspartate459.4F7, F2, F10
6Coagulation Factor IX119.3F10, F7, F2
7Coagulation factor VIIa119.2F3, F10, F7
8rivaroxaban45 1110.2F3, F10, F2
9rfviii459.1F9, F5, F10
10ppack459.1F2, F10, F3
11phenprocoumon45 50 1111.1F3, F9, F2
12tranexamic acid45 1110.0F9, F3, F2
13ancrod459.0F2, F5, F10
14tirofiban45 1110.0F2, F10, F3
15organon458.9F10, F9, F3, F2
16inogatran458.9F3, F2, F5
17menadione45 11 2410.8F9, F10, F7, F2
18aprotinin45 119.6F9, F5, F10, F3
19cacl2458.6F9, F5, F10, F3
20ecarin458.5F3, F2, F10, F5
21spectrozyme458.5F2, F5, F10, F3
22danaparoid458.5F2, F10, F5, F3
23ximelagatran45 119.5F10, F5, F2, F3
24heparinoids458.5F2, F3, F10, F5
25bivalirudin45 119.5F3, F10, F5, F2
26argatroban45 119.5F10, F5, F2, F3
27protamine sulfate458.5F5, F10, F2, F3
28acetaminophen45 2 50 11 2412.5F5, F2, F10, F9
29benzamidine45 119.5F9, F10, F5
30dextran sulfate458.5F9, F5, F10, F3
31acenocoumarol45 50 1110.5F2, F3, F5, F9
32cardiolipin45 119.4F5, F10, F3, F2
33ristocetin458.4F2, F3, F5, F9
34protamine458.4F5, F2, F10, F3
35desmopressin45 60 29 1111.4F5, F3, F2, F9
36levonorgestrel45 60 29 1111.4F5, F7, F3, F2
37homocysteine45 249.2F2, F3, F9, F5
38simvastatin45 50 60 29 11 2413.1F5, F3, F2, F10
39fondaparinux458.1F2, F10, F5, F3, F9
40kaolin458.1F2, F3, F9, F5, F10
41coumarin45 2 50 2411.1F9, F5, F10, F2, F3
42hirudin458.1F2, F9, F5, F10, F3
43dermatan sulfate458.1F9, F2, F5, F3, F10
44citrate458.0F9, F10, F3, F5, F2
45phosphatidylserine45 29 1110.0F2, F9, F10, F5, F3
46kininogen457.9F7, F2, F5, F9, F3
47phospholipid457.9F3, F2, F9, F5, F10
48gamma-carboxyglutamic acid457.6F2, F5, F9, F10, F7, F3
49creatinine457.5F2, F7, F5, F3, F9
50fibrinogen457.5F5, F9, F10, F2, F3, F7

GO Terms for genes affiliated with Factor X Deficiency

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Factor X 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