MCID: FCT003
MIFTS: 64

Factor X Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories
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Summaries for Factor X Deficiency

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Wikipedia:65 Factor X, also known by the eponym Stuart?Prower factor or as prothrombinase, thrombokinase or... more...

MalaCards based summary: Factor X Deficiency, also known as stuart-prower factor deficiency, is related to amyloidosis and hemarthrosis, and has symptoms including An important gene associated with Factor X Deficiency is F10 (coagulation factor X), and among its related pathways are Selenium Pathway and PTM- gamma carboxylation, hypusine formation and arylsulfatase activation. The compounds rivaroxaban and ppack have been mentioned in the context of this disorder. Affiliated tissues include liver, testes and myeloid, and related mouse phenotypes are embryogenesis and cardiovascular system.

Description from OMIM:46 227600

Aliases & Classifications for Factor X Deficiency

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 46OMIM, 10DISEASES, 44Novoseek, 62UMLS, 48Orphanet, 34MeSH, 57SNOMED-CT, 26ICD10 via Orphanet
See all sources

Factor X Deficiency, Aliases & Descriptions:

Name: Factor X Deficiency 8 9 42 20 22 46 10 44 62
Stuart-Prower Factor Deficiency 42 48 62
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


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
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


External Ids:

Disease Ontology8 DOID:2222
MeSH34 D005171
SNOMED-CT57 76642003
OMIM46 227600
ICD10 via Orphanet26 D68.2

Related Diseases for Factor X Deficiency

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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 85)
idRelated DiseaseScoreTop Affiliating Genes
1amyloidosis31.4F9, F10
2hemarthrosis30.2F9, F10, F3
3hepatitis30.0F2, F9, F10
4antiphospholipid syndrome29.6F2, F10, F3, F5
5disseminated intravascular coagulation29.1F9, F10, F3, F5, F7, F2
6thrombophilia28.9F2, F9, F10, F3, F5, F7
7al amyloidosis10.5
8carotid artery thrombosis10.4F3
9warfarin sensitivity10.4F9
10coronary thrombosis10.4F3
11hemorrhagic disease10.4F9
12glanzmann's thrombasthenia10.4F7
13burns10.3
14sagittal sinus thrombosis10.3F5
15homocysteinemia10.3F5
16central retinal vein occlusion10.2F5
17inherited hypoprothrombinemia10.2F2, F10
18leukemia10.2
19myeloma10.2
20nephrotic syndrome10.2
21factor xii deficiency10.1F3, F5
22quebec platelet disorder10.1F10, F5
23bernard-soulier syndrome10.1F2, F9
24bilirubin metabolic disorder10.1F9, F2
25leukopenia10.1F3, F2
26viral hepatitis10.1F10, F2
27galactosemia10.1F2, F3
28intracranial thrombosis10.1F3, F5
29coronary artery anomaly10.1F7, F10
30acute liver failure10.0
31glomerulonephritis10.0
32multiple myeloma10.0
33membranoproliferative glomerulonephritis10.0
34lipoma10.0
35osteomyelitis10.0
36peritonitis10.0
37pneumonia10.0
38spindle cell thymoma10.0
39thymoma10.0
40hemophilia10.0
41amyloidosis, secondary10.0
42amyloidosis, renal10.0
43connective tissue disease10.0F2, F3
44acute myocardial infarction10.0F7, F3, F10
45dysfibrinogenemia10.0F2, F5
46prothrombin deficiency10.0F2, F5
47hypercholesterolemia10.0F9, F10, F7
48blood protein disease10.0F5, F2
49stroke, ischemic10.0F3, F5
50thrombocytosis10.0F3, F10, F2

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



Diseases related to factor x deficiency

Symptoms for Factor X Deficiency

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Symptoms by clinical synopsis from OMIM:

227600

Clinical features from OMIM:

227600

HPO human phenotypes related to Factor X Deficiency:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 menorrhagia HP:0000132
3 gingival bleeding HP:0000225
4 epistaxis HP:0000421
5 intracranial hemorrhage HP:0002170
6 prolonged partial thromboplastin time HP:0003645
7 variable expressivity HP:0003828
8 joint hemorrhage HP:0005261
9 prolonged prothrombin time HP:0008151
10 reduced factor x activity HP:0008321
11 intramuscular hematoma HP:0012233

Drugs & Therapeutics for Factor X Deficiency

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Drug clinical trials:

Search ClinicalTrials for Factor X Deficiency

Search NIH Clinical Center for Factor X Deficiency

Genetic Tests for Factor X Deficiency

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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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MalaCards organs/tissues related to Factor X Deficiency:

32
Liver, Testes, Myeloid

Animal Models for Factor X Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor X Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053808.1F5, F3, F9, F2
2MP:00053857.1F7, F5, F3, F10, F9, F2
3MP:00053767.0F2, F9, F10, F3, F5, F7
4MP:00107686.8F2, F9, F10, F3, F5, F7

Publications for Factor X Deficiency

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Articles related to Factor X Deficiency:

(show top 50)    (show all 192)
idTitleAuthorsYear
1
Utility of factor X concentrate for the treatment of acquired factor X deficiency in systemic light-chain amyloidosis. (24786460)
2014
2
Acquired factor X deficiency associated with atypical AL-amyloidosis. (25130122)
2014
3
Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report. (22506295)
2012
4
Acquired, non-amyloid related factor X deficiency: review of the literature. (23437437)
2012
5
Subgaleal hemorrhage in a neonate with factor X deficiency following a non-traumatic cesarean section. (22460599)
2012
6
Acquired factor X deficiency in light chain amyloidosis: a report of 2 Korean cases. (21779187)
2011
7
Factor X deficiency presenting with bilateral chronic subdural hematoma. (20516741)
2010
8
Molecular basis of factor X deficiency cases from India. (20331754)
2010
9
Systemic AL amyloidosis with acquired factor X deficiency: A study of perioperative bleeding risk and treatment outcomes in 60 patients. (20052750)
2010
10
Dental management of a patient with factor X deficiency. (19627657)
2009
11
Pregnancy in a patient with severe factor X deficiency. (19765091)
2009
12
Different genotypes are responsible for the normal Russell viper venom assays seen in some cases of congenital factor X deficiency. (18785643)
2008
13
Phenotype and genotype report on homozygous and heterozygous patients with congenital factor X deficiency. (18403394)
2008
14
Diagnosis and treatment of inherited factor X deficiency. (19141158)
2008
15
Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. (16919077)
2006
16
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree. (15660986)
2005
17
Genetic analysis of hereditary factor X deficiency in a French patient of Sri Lankan ancestry: in vitro expression study identified Gly366Ser substitution as the molecular basis of the dysfunctional factor X. (15650540)
2005
18
Resolution of acquired factor X deficiency with amyloidosis secondary to plasma cell dyscrasia. (15551292)
2004
19
Two novel factor X gene mutations in a Chinese family with factor X deficiency. (15060750)
2004
20
Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene]. (15569527)
2004
21
Successful treatment of systemic amyloidosis with hepatic involvement and factor X deficiency by high dose melphalan chemotherapy and autologous stem cell reinfusion. (14962236)
2004
22
Factor X deficiency. (12127953)
2002
23
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. (12028042)
2002
24
Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. (11238135)
2001
25
Danazol therapy in factor X deficiency. (11554940)
2001
26
Factor X deficiency: an unusual cause for spontaneous intracranial bleeding. (10869148)
2000
27
Poor recovery and short survival of infused factor X in a case of acquired factor X deficiency and amyloidosis. (10544941)
1999
28
Factor X Frankfurt I: molecular and functional characterization of a hereditary factor X deficiency (Gla+25 to Lys). (9622212)
1998
29
Splenectomy in an uraemic patient with acquired factor X deficiency due to AL amyloidosis. (9481739)
1998
30
A functional factor X deficiency. (7832186)
1995
31
Unusual bleeding manifestations in a case of primary amyloidosis with factor X deficiency but elevations of in vivo markers of thrombin formation and activity. (8585046)
1995
32
Five novel point mutations: two causing haemophilia B and three causing factor X deficiency. (8028609)
1994
33
Neonatal congenital factor X deficiency. (8507249)
1993
34
Human coagulation factor X deficiency caused by a mutant signal peptide that blocks cleavage by signal peptidase but not targeting and translocation to the endoplasmic reticulum. (8449937)
1993
35
A case of acquired factor X deficiency with in vivo and in vitro evidence of inhibitor activity directed against factor X. (1862774)
1991
36
Factor X deficiency during treatment of relapsed acute myeloid leukaemia with amsacrine. (3166416)
1988
37
Severe congenital factor X deficiency with intracranial haemorrhage. (3732313)
1986
38
Replacement therapy for congenital Factor X deficiency. (3969706)
1985
39
Transient acquired factor X deficiency associated with pneumonia. (6595555)
1984
40
A new family with classical factor X deficiency as demonstrated by electroimmunoassay. (6860802)
1983
41
Mechanism of factor X deficiency in systemic amyloidosis. (7207512)
1981
42
Acquired factor X deficiency with associated defects in platelet aggregation. A response to corticosteroid therapy. (7386500)
1980
43
Factor X deficiency in primary amyloidosis. (7360188)
1980
44
Syndrome of acquired factor X deficiency and systemic amyloidosis in vivo studies of the metabolic fate of factor X. (865580)
1977
45
Platelet aggregation and adhesiveness in classical factor X deficiency and in the abnormal factor X (factor X Friuli) coagulation disorder. (826088)
1976
46
Isolated factor X deficiency in amyloidosis. Case report and review of the literature. (1101084)
1975
47
Acquired factor X deficiency. Altered plasma antithrombin activity and association with amyloidosis. (4479863)
1974
48
Factor X level in coumarin treated patients and in factor X deficiency as assayed with different techniques. (5050158)
1972
49
Amyloidosis with factor X deficiency. (4650132)
1972
50
Acquired factor X deficiency in a patient with amyloidosis. (14458535)
1962

Variations for Factor X Deficiency

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

64 (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

Clinvar genetic disease variations for Factor X Deficiency:

6 (show all 14)
id Gene Name Type Significance SNP ID Assembly Location
1F10NM_000504.3(F10): c.1096C> T (p.Arg366Cys)single nucleotide variantPathogenicrs104894392GRCh37Chr 13, 113803460: 113803460
2F10NM_000504.3(F10): c.813delC (p.Leu272Terfs)deletionPathogenicrs387906506GRCh37Chr 13, 113801758: 113801758
3F10F10, GLU14LYSsingle nucleotide variantPathogenic
4F10F10, VAL298METundetermined variantPathogenic
5F10F10, PRO343SERsingle nucleotide variantPathogenic
6F10F10, G-A, -20single nucleotide variantPathogenic
7F10NM_000504.3(F10): c.859A> T (p.Arg287Trp)single nucleotide variantPathogenicrs121964948GRCh37Chr 13, 113801804: 113801804
8F10F10, SER334PROundetermined variantPathogenic
9F10NM_000504.3(F10): c.424G> A (p.Glu142Lys)single nucleotide variantPathogenicrs61753266GRCh37Chr 13, 113795286: 113795286
10F10F10, ASP282ASNundetermined variantPathogenic
11F10F10, GLU7GLYsingle nucleotide variantPathogenic
12F10Factor X Ketchikansingle nucleotide variantPathogenic
13F10F10, GLU32GLNsingle nucleotide variantPathogenic
14F10F10, THR318METundetermined variantPathogenic

Expression for genes affiliated with Factor X Deficiency

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway37
9.3F7, F2
2
Show member pathways
8.4F2, F9, F10, F7
3
Show member pathways
8.4F7, F10, F9, F2
4
Show member pathways
7.1F7, F2, F9, F10, F3, F5
5
Show member pathways
7.1F2, F9, F10, F3, F5, F7
6
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
7.1F2, F9, F10, F3, F5, F7
7
Show member pathways
7.1F2, F9, F10, F3, F5, F7

Compounds for genes affiliated with Factor X Deficiency

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

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1rivaroxaban44 1110.3F3, F10, F2
2ppack449.2F3, F10, F2
3phenprocoumon44 50 1111.1F9, F2, F3
4tirofiban44 1110.1F2, F3, F10
5tranexamic acid44 1110.1F2, F3, F9
6rfviii449.0F10, F9, F5
7inogatran448.9F5, F3, F2
8ancrod448.9F2, F10, F5
9organon448.9F2, F9, F10, F3
10benzamidine44 119.7F10, F9, F5
11menadione44 24 1110.7F9, F10, F7, F2
12cacl2448.7F9, F5, F3, F10
13ecarin448.6F10, F3, F5, F2
14spectrozyme448.6F10, F3, F2, F5
15dextran sulfate448.6F5, F3, F10, F9
16danaparoid448.6F5, F2, F10, F3
17ximelagatran44 119.6F10, F5, F3, F2
18heparinoids448.6F2, F5, F3, F10
19epsilon aminocaproic acid448.6F9, F3, F2
20bivalirudin44 119.6F2, F5, F3, F10
21argatroban44 119.6F3, F5, F10, F2
22protamine sulfate448.6F5, F3, F10, F2
23cardiolipin44 119.5F5, F3, F10, F2
24protamine448.5F10, F3, F5, F2
25acenocoumarol44 50 1110.5F3, F9, F2, F5
26ristocetin448.4F5, F9, F2, F3
27levonorgestrel44 61 28 1111.4F3, F7, F5, F2
28desmopressin44 61 28 1111.4F2, F9, F5, F3
29acetaminophen44 2 50 24 1112.4F5, F10, F9, F2
30homocysteine44 249.3F5, F3, F2, F9
31simvastatin44 50 61 28 24 1113.2F5, F2, F10, F3
32phosphatidylcholine448.1F5, F10, F9, F2
33fondaparinux448.1F2, F5, F10, F3, F9
34coumarins448.1F2, F9, F3, F5, F10
35kaolin448.1F5, F3, F10, F9, F2
36coumarin44 2 50 2411.1F2, F9, F10, F5, F3
37hirudin448.1F10, F5, F3, F2, F9
38dermatan sulfate448.1F2, F3, F5, F9, F10
39aprotinin44 119.0F10, F5, F3, F9, F2
40citrate448.0F2, F9, F10, F3, F5
41phosphatidylserine44 28 1110.0F9, F2, F10, F3, F5
42phospholipid447.9F3, F5, F10, F9, F2
43kininogen447.9F2, F9, F3, F5, F7
44heparin44 28 24 1110.8F9, F3, F10, F5, F2
45creatinine447.7F2, F7, F5, F3, F9
46gamma-carboxyglutamic acid447.6F7, F5, F3, F10, F9, F2
47warfarin44 50 24 1110.6F7, F5, F3, F2, F9, F10
48fibrinogen447.5F3, F2, F9, F5, F7, F10
49aspartate447.5F7, F2, F9, F10, F3, F5
50serine447.0F7, F3, F5, F2, F9, F10

GO Terms for genes affiliated with Factor X Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:0312339.6F3, F10
2Golgi lumenGO:0057968.5F7, F10, F9, F2
3endoplasmic reticulum lumenGO:0057888.5F2, F9, F10, F7
4extracellular spaceGO:0056158.1F7, F5, F3, F2
5extracellular regionGO:0055767.5F2, F9, F10, F5, F7
6plasma membraneGO:0058866.8F2, F9, F10, F3, F5, F7

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:0106419.6F3, F7
2positive regulation of blood coagulationGO:0301949.3F7, F2
3positive regulation of positive chemotaxisGO:0509279.2F7, F3
4positive regulation of protein kinase B signalingGO:0518979.2F7, F3, F10
5blood coagulation, intrinsic pathwayGO:0075979.1F10, F9, F2
6positive regulation of cell migrationGO:0303359.0F7, F3, F10
7blood coagulation, extrinsic pathwayGO:0075988.8F7, F3, F10, F9
8peptidyl-glutamic acid carboxylationGO:0171878.6F2, F9, F10, F7
9proteolysisGO:0065088.6F2, F9, F10, F7
10post-translational protein modificationGO:0436878.5F7, F10, F9, F2
11cellular protein metabolic processGO:0442678.4F2, F9, F10, F7
12blood coagulationGO:0075967.3F2, F9, F10, F3, F5, F7

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

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:0055439.6F3, F10
2calcium ion bindingGO:0055098.1F2, F9, F10, F7
3serine-type endopeptidase activityGO:0042527.5F7, F5, F10, F9, F2

Products for genes affiliated with Factor X Deficiency

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet