MCID: FCT003
MIFTS: 58

Factor X Deficiency malady

Genetic diseases, Rare diseases, Blood diseases categories

Aliases & Classifications for Factor X Deficiency

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Factor X Deficiency, Aliases & Descriptions:

Name: Factor X Deficiency 45 9 10 41 20 21 11 43 22 60
Congenital Stuart Factor Deficiency 41 21 47
Stuart-Prower Factor Deficiency 41 21 47
Congenital Factor X Deficiency 41 47
F10 Deficiency 41 21
 
Hereditary Factor X Deficiency Disease 60
Stuart Factor Deficiency, Congenital 41
Factor X Deficiency, Congenital 41
Disease, Stuart-Prower 9


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
congenital stuart factor deficiency:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 227600
Disease Ontology9 DOID:2222
MeSH33 D005171
SNOMED-CT55 76642003
Orphanet47 328
ICD10 via Orphanet26 D68.2

Summaries for Factor X Deficiency

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Genetics Home Reference:21 Factor X deficiency is a rare bleeding disorder that varies in severity among affected individuals. The signs and symptoms of this condition can begin at any age, although the most severe cases are apparent in childhood. Factor X deficiency commonly causes nosebleeds, easy bruising, bleeding under the skin, bleeding of the gums, blood in the urine (hematuria), and prolonged or excessive bleeding following surgery or trauma. Women with factor X deficiency can have heavy or prolonged menstrual bleeding (menorrhagia) or excessive bleeding in childbirth, and may be at increased risk of pregnancy loss (miscarriage). Bleeding into joint spaces (hemarthrosis) occasionally occurs. Severely affected individuals have an increased risk of bleeding inside the skull (intracranial hemorrhage), in the lungs (pulmonary hemorrhage), or in the gastrointestinal tract, which can be life-threatening.

MalaCards based summary: Factor X Deficiency, also known as congenital stuart factor deficiency, is related to amyloidosis and hemarthrosis, and has symptoms including autosomal recessive inheritance, menorrhagia and gingival bleeding. An important gene associated with Factor X Deficiency is F10 (coagulation factor X), and among its related pathways are Selenium Pathway and Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein. The compounds rivaroxaban and ppack have been mentioned in the context of this disorder. Affiliated tissues include lung, skin and liver, and related mouse phenotypes are embryogenesis and cardiovascular system.

OMIM:45 Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected... (227600) more...

Wikipedia:63 Factor X, also known by the eponym Stuart?Prower factor or as prothrombinase, thrombokinase or... more...

Related Diseases for Factor X Deficiency

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

(show top 50)    (show all 84)
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
7hemophilia a28.9F2, F9, F10, F3, F5, F7
8al amyloidosis10.5
9carotid artery thrombosis10.4F3
10coumarin resistance10.4F9
11coronary thrombosis10.4F3
12hemorrhagic disease10.4F9
13glanzmann thrombasthenia10.4F7
14burns10.3
15sagittal sinus thrombosis10.3F5
16homocysteinemia10.3F5
17central retinal vein occlusion10.2F5
18leukemia10.2
19myeloma10.2
20nephrotic syndrome10.2
21factor xiii deficiency10.1F3, F5
22atrial fibrillation10.1F10, F2
23quebec platelet disorder10.1F10, F5
24bernard-soulier syndrome, type c10.1F2, F9
25bilirubin metabolic disorder10.1F9, F2
26leukopenia10.1F3, F2
27intracranial thrombosis10.1F3, F5
28viral hepatitis10.1F10, F2
29galactosemia10.1F2, F3
30coronary artery disease10.1F7, F10
31lipoma10.0
32multiple myeloma10.0
33acute liver failure10.0
34glomerulonephritis10.0
35membranoproliferative glomerulonephritis10.0
36hypertrophic cardiomyopathy10.0
37osteomyelitis10.0
38peritonitis10.0
39pneumonia10.0
40spindle cell thymoma10.0
41thymoma10.0
42hemophilia10.0
43dysfibrinogenemia10.0F2, F5
44acute myocardial infarction10.0F7, F3, F10
45connective tissue disease10.0F2, F3
46hypoprothrombinemia10.0F2, F5
47hypercholesterolemia, familial10.0F9, 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:

31
Lung, Skin, Liver, Testes, Myeloid

Animal Models for Factor X Deficiency or affiliated genes

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MGI Mouse Phenotypes related to Factor X Deficiency:

35
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 197)
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
Severe factor X deficiency due to a homozygous mutation (Cys364Arg) that disrupts a disulphide bond in the catalytic domain. (17083512)
2006
16
Factor X deficiency: clinical manifestation of 102 subjects from Europe and Latin America with mutations in the factor 10 gene. (16919077)
2006
17
Molecular characterization of two novel mutations causing factor X deficiency in a Chinese pedigree. (15660986)
2005
18
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
19
Resolution of acquired factor X deficiency with amyloidosis secondary to plasma cell dyscrasia. (15551292)
2004
20
Two novel factor X gene mutations in a Chinese family with factor X deficiency. (15060750)
2004
21
Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene]. (15569527)
2004
22
Successful treatment of systemic amyloidosis with hepatic involvement and factor X deficiency by high dose melphalan chemotherapy and autologous stem cell reinfusion. (14962236)
2004
23
Factor X deficiency. (12127953)
2002
24
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. (12028042)
2002
25
Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. (11238135)
2001
26
Danazol therapy in factor X deficiency. (11554940)
2001
27
Factor X deficiency: an unusual cause for spontaneous intracranial bleeding. (10869148)
2000
28
Poor recovery and short survival of infused factor X in a case of acquired factor X deficiency and amyloidosis. (10544941)
1999
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:

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

Clinvar genetic disease variations for Factor X Deficiency:

6 (show all 14)
id Gene Variation 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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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
thioredoxin pathway36
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
7.1F5, F7, F3, F10, F9, F2
5
Show member pathways
7.1F7, F3, F2, F10, F5, F9
6
Show member pathways
7.1F5, F3, F10, F9, F2, F7
7
Show member pathways
Complement Activation, Classical Pathway36
Complement and Coagulation Cascades36
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 Suite gene sharing:

(show top 50)    (show all 121)
idCompoundScoreTop Affiliating Genes
1rivaroxaban43 1210.3F3, F10, F2
2ppack439.2F3, F10, F2
3phenprocoumon43 49 1211.1F9, F2, F3
4tirofiban43 1210.1F2, F3, F10
5tranexamic acid43 1210.1F2, F3, F9
6rfviii439.0F10, F9, F5
7inogatran438.9F5, F3, F2
8ancrod438.9F2, F10, F5
9organon438.9F2, F9, F10, F3
10benzamidine43 129.7F10, F9, F5
11menadione43 24 1210.7F9, F10, F7, F2
12cacl2438.7F9, F5, F3, F10
13ecarin438.6F10, F3, F5, F2
14spectrozyme438.6F10, F3, F2, F5
15dextran sulfate438.6F5, F3, F10, F9
16danaparoid438.6F5, F2, F10, F3
17ximelagatran43 129.6F10, F5, F3, F2
18heparinoids438.6F2, F5, F3, F10
19epsilon aminocaproic acid438.6F9, F3, F2
20bivalirudin43 129.6F2, F5, F3, F10
21argatroban43 129.6F3, F5, F10, F2
22protamine sulfate438.6F5, F3, F10, F2
23cardiolipin43 129.5F5, F3, F10, F2
24protamine438.5F10, F3, F5, F2
25acenocoumarol43 49 1210.5F3, F9, F2, F5
26ristocetin438.4F5, F9, F2, F3
27levonorgestrel43 59 28 1211.4F3, F7, F5, F2
28desmopressin43 59 28 1211.4F2, F9, F5, F3
29acetaminophen43 2 49 24 1212.4F5, F10, F9, F2
30homocysteine43 249.3F5, F3, F2, F9
31simvastatin43 49 59 28 24 1213.2F5, F2, F10, F3
32phosphatidylcholine438.1F5, F10, F9, F2
33fondaparinux438.1F2, F5, F10, F3, F9
34coumarins438.1F2, F9, F3, F5, F10
35kaolin438.1F5, F3, F10, F9, F2
36coumarin43 2 49 2411.1F2, F9, F10, F5, F3
37hirudin438.1F10, F5, F3, F2, F9
38dermatan sulfate438.1F2, F3, F5, F9, F10
39aprotinin43 129.0F10, F5, F3, F9, F2
40citrate438.0F2, F9, F10, F3, F5
41phosphatidylserine43 28 1210.0F9, F2, F10, F3, F5
42phospholipid437.9F3, F5, F10, F9, F2
43kininogen437.9F2, F9, F3, F5, F7
44heparin43 28 24 1210.8F9, F3, F10, F5, F2
45creatinine437.7F2, F7, F5, F3, F9
46gamma-carboxyglutamic acid437.6F7, F5, F3, F10, F9, F2
47warfarin43 49 24 1210.6F7, F5, F3, F2, F9, F10
48fibrinogen437.5F3, F2, F9, F5, F7, F10
49aspartate437.5F7, F2, F9, F10, F3, F5
50serine437.0F7, 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1intrinsic component of external side of plasma membraneGO:00312339.6F10, F3
2Golgi lumenGO:00057968.5F7, F2, F9, F10
3endoplasmic reticulum lumenGO:00057888.5F10, F9, F2, F7
4extracellular spaceGO:00056158.1F7, F5, F3, F2
5extracellular regionGO:00055767.5F7, F5, F2, F9, F10
6plasma membraneGO:00058866.8F2, F9, F10, F3, F5, F7

Biological processes related to Factor X Deficiency according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of platelet-derived growth factor receptor signaling pathwayGO:00106419.6F3, F7
2positive regulation of blood coagulationGO:00301949.3F7, F2
3positive regulation of positive chemotaxisGO:00509279.2F7, F3
4positive regulation of protein kinase B signalingGO:00518979.2F7, F3, F10
5blood coagulation, intrinsic pathwayGO:00075979.1F10, F9, F2
6positive regulation of cell migrationGO:00303359.0F7, F3, F10
7blood coagulation, extrinsic pathwayGO:00075988.8F7, F3, F10, F9
8peptidyl-glutamic acid carboxylationGO:00171878.6F2, F9, F10, F7
9proteolysisGO:00065088.6F2, F9, F10, F7
10post-translational protein modificationGO:00436878.5F7, F10, F9, F2
11cellular protein metabolic processGO:00442678.4F2, F9, F10, F7
12blood coagulationGO:00075967.3F2, F9, F10, F3, F5, F7

Molecular functions related to Factor X Deficiency according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1phospholipid bindingGO:00055439.6F3, F10
2calcium ion bindingGO:00055098.1F2, F9, F10, F7
3serine-type endopeptidase activityGO:00042527.5F7, F5, F10, F9, F2

Products for genes affiliated with Factor X Deficiency

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  • Antibodies
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  • Lysates
  • Antibodies
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  • Kits and Assays

Sources for Factor X Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet