FA10D
MCID: FCT003
MIFTS: 57

Factor X Deficiency (FA10D)

Categories: Blood diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Factor X Deficiency

MalaCards integrated aliases for Factor X Deficiency:

Name: Factor X Deficiency 57 12 75 53 25 74 37 29 13 55 6 44 15 72
Stuart-Prower Factor Deficiency 57 53 25 59 74
F10 Deficiency 57 53 25 74
Congenital Stuart Factor Deficiency 25 59
Hereditary Factor X Deficiency Disease 72
Stuart Factor Deficiency, Congenital 53
Factor X Deficiency, Congenital 53
Congenital Factor X Deficiency 59
Disease, Stuart-Prower 12
Factor 10 Deficiency 74
Deficiency, Factor X 40
Fa10d 74

Characteristics:

Orphanet epidemiological data:

59
congenital factor x deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
incidence of 1 in 500,000 live births
intermediate levels of factor x in mildly symptomatic heterozygotes


HPO:

32
factor x deficiency:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:2222
OMIM 57 227600
KEGG 37 H02257
MeSH 44 D005171
NCIt 50 C131632
SNOMED-CT 68 76642003
ICD10 via Orphanet 34 D68.2
UMLS via Orphanet 73 C0015519
Orphanet 59 ORPHA328
MedGen 42 C0015519
UMLS 72 C0015519 C0272327

Summaries for Factor X Deficiency

NIH Rare Diseases : 53 Factor X deficiency is a rare disorder that affects the blood's ability to clot. The severity of the disorder and the associated signs and symptoms can vary significantly from person to person. Common features of factor X deficiency may include easy bruising, frequent nosebleeds, bleeding gums, blood in the urine, and prolonged bleeding after minor injuries. Women with factor X deficiency may also experience heavy menstrual bleeding and may have an increased risk for first trimester miscarriages. Acquired (non-inherited) factor X deficiency, which is the most common form of the disorder, generally occurs in people with no family history of the disorder. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and certain types of cancer. The inherited form of factor X deficiency (also called congenital factor X deficiency) is caused by changes (mutations) in the F10 gene and is inherited in an autosomal recessive manner. Factor X deficiency can be diagnosed based on the symptoms and through laboratory tests to measure clotting time. The goal of treatment is to control bleeding through intravenous (IV) infusions of plasma or concentrates of clotting factors.

MalaCards based summary : Factor X Deficiency, also known as stuart-prower factor deficiency, is related to hemarthrosis and factor viii deficiency. An important gene associated with Factor X Deficiency is F10 (Coagulation Factor X), and among its related pathways/superpathways are Complement and coagulation cascades and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include liver, testes and lung, and related phenotypes are prolonged prothrombin time and reduced factor x activity

Genetics Home Reference : 25 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.

OMIM : 57 Factor X deficiency is a rare autosomal recessive bleeding disorder showing variable phenotypic severity. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. The disorder can be caused either by reduced levels of the factor X protein or by synthesis of a dysfunctional factor X protein (summary by Millar et al., 2000). (227600)

KEGG : 37
Congenital factor X deficiency (FXD) is one of the most severe forms of rare bleeding disorders transmitted in autosomal recessive manner. FXD is accompanied by a wide spectrum of clinical presentations, ranging from mild bleeding diathesis to severe life-threatening bleeding episodes such as umbilical cord bleeding and intracranial hemorrhage. A wide spectrum of factor X gene mutations was observed in patients with congenital FXD.

UniProtKB/Swiss-Prot : 74 Factor X deficiency: A hemorrhagic disease with variable presentation. Affected individuals can manifest prolonged nasal and mucosal hemorrhage, menorrhagia, hematuria, and occasionally hemarthrosis. Some patients do not have clinical bleeding diathesis.

Wikipedia : 75 Factor X deficiency (X as Roman numeral ten) is a bleeding disorder characterized by a lack in the... more...

Related Diseases for Factor X Deficiency

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

(show top 50) (show all 177)
# Related Disease Score Top Affiliating Genes
1 hemarthrosis 30.3 VWF F9 F7 F10
2 factor viii deficiency 29.7 VWF F5 F2 F11
3 factor xii deficiency 29.6 SERPINC1 F9 F5 F3
4 disseminated intravascular coagulation 29.4 SERPINC1 F9 F7 F5 F3 F2
5 factor vii deficiency 29.2 GFM1 F9 F7 F3 F2 F10
6 hemophilia 29.2 VWF TFPI F9 F7 F3 F2
7 hemophilia b 28.9 SERPINC1 F9 F7 F3 F2 F11
8 thrombophilia due to thrombin defect 28.8 VWF SERPINC1 F5 F3 F2 F10
9 antiphospholipid syndrome 28.8 VWF SERPINC1 F5 F3 F2 F10
10 hemophilia a 28.8 VWF F9 F7 F5 F3 F11
11 hemorrhagic disease 28.3 VWF SERPINC1 F9 F7 F5 F3
12 thrombophilia 27.9 VWF SERPINC1 PROS1 F9 F5 F3
13 thrombosis 27.2 VWF TFPI SERPINC1 PROS1 F9 F7
14 mesenteric vascular occlusion 10.7 F7 F2
15 cerebral falx meningioma 10.7 F3 F2
16 paracetamol poisoning 10.6 F5 F2
17 amyloidosis 10.6
18 sudden sensorineural hearing loss 10.6 F5 F2
19 hemoglobin e disease 10.6 F5 F2
20 femoral neuropathy 10.6 F3 F2
21 prothrombin deficiency 10.6 F7 F3 F2
22 cryptogenic cirrhosis 10.6 F5 F2
23 hantavirus pulmonary syndrome 10.6 F3 F2
24 carotid artery thrombosis 10.5 F3 F10
25 catastrophic antiphospholipid syndrome 10.5 F5 F3
26 anterior cranial fossa meningioma 10.5 F7 F3 F2
27 active peptic ulcer disease 10.5 VWF F2
28 thrombasthenia 10.5 F5 F3 F2
29 porencephaly 10.5 F5 F2
30 alcohol-related birth defect 10.5 F3 F2 F11
31 brachydactyly, type d 10.5 VWF F2
32 cardiac tamponade 10.4 F9 F2
33 intracranial embolism 10.4 SERPINC1 F2
34 coronary artery anomaly 10.4 F7 F5 F2
35 alpha-2-plasmin inhibitor deficiency 10.4 SERPINC1 F2
36 sticky platelet syndrome 10.4 SERPINC1 F5
37 splenic disease 10.4 F3 F2
38 von willebrand disease, type 1 10.4 VWF F3 F2
39 heparin-induced thrombocytopenia 10.3 SERPINC1 F3 F10
40 subendocardial myocardial infarction 10.3 SERPINC1 F2
41 acquired von willebrand syndrome 10.3 VWF F9 F11
42 fournier gangrene 10.3 SERPINC1 F3 F2
43 intestinal impaction 10.3 SERPINC1 F3 F2
44 giant hemangioma 10.3 SERPINC1 F3 F2
45 blue toe syndrome 10.3 SERPINC1 F3 F2
46 al amyloidosis 10.3
47 spinal cord infarction 10.3 SERPINC1 F5 F2
48 marantic endocarditis 10.3 SERPINC1 F3 F2
49 von willebrand disease, type 3 10.3 VWF F3 F11
50 hepatic infarction 10.3 SERPINC1 F3 F2

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



Diseases related to Factor X Deficiency

Symptoms & Phenotypes for Factor X Deficiency

Human phenotypes related to Factor X Deficiency:

59 32 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 prolonged prothrombin time 59 32 obligate (100%) Obligate (100%) HP:0008151
2 reduced factor x activity 59 32 obligate (100%) Obligate (100%) HP:0008321
3 prolonged bleeding after dental extraction 59 32 hallmark (90%) Very frequent (99-80%) HP:0006298
4 prolonged bleeding after surgery 59 32 hallmark (90%) Very frequent (99-80%) HP:0004846
5 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
6 epistaxis 59 32 frequent (33%) Frequent (79-30%) HP:0000421
7 hematuria 59 32 occasional (7.5%) Occasional (29-5%) HP:0000790
8 gastrointestinal hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0002239
9 spontaneous hematomas 59 32 occasional (7.5%) Occasional (29-5%) HP:0007420
10 bruising susceptibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0000978
11 menorrhagia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000132
12 joint hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0005261
13 post-partum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0011891
14 abnormal umbilical stump bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0011884
15 intramuscular hematoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0012233
16 oral cavity bleeding 59 32 occasional (7.5%) Occasional (29-5%) HP:0030140
17 antepartum hemorrhage 59 32 occasional (7.5%) Occasional (29-5%) HP:0025328
18 subarachnoid hemorrhage 59 32 very rare (1%) Very rare (<4-1%) HP:0002138
19 hemoperitoneum 59 32 very rare (1%) Very rare (<4-1%) HP:0011854
20 abnormality of the musculature 32 HP:0003011
21 intracranial hemorrhage 32 HP:0002170
22 prolonged partial thromboplastin time 32 HP:0003645

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas
umbilical cord bleeding

Neurologic Central Nervous System:
intracranial hemorrhage

Head And Neck Mouth:
bleeding gums

Skeletal:
hemarthrosis

Laboratory Abnormalities:
factor x deficiency
prolonged prothrombin and partial thromboplastin times
russell's viper venom assay may be prolonged or normal, depending on the genetic defect

Clinical features from OMIM:

227600

MGI Mouse Phenotypes related to Factor X Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.06 F10 F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.93 F10 F11 F2 F3 F5 F7
3 embryo MP:0005380 9.86 F2 F3 F5 F9 PROS1 SERPINC1
4 mortality/aging MP:0010768 9.73 F10 F11 F2 F3 F5 F7
5 nervous system MP:0003631 9.32 F11 F2 F3 F5 PROS1 RBM8A

Drugs & Therapeutics for Factor X Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase III Open, Multicentre Study to Investigate the Pharmacokinetics, Safety and Efficacy of BPL's High Purity Factor X in the Treatment of Severe and Moderate Factor X Deficiency. Completed NCT00930176 Phase 3
2 A Phase III Open, Multicentre Study to Investigate the Safety, Pharmacokinetics and Efficacy of BPL's High Purity Factor X in the Prophylaxis of Bleeding in Factor X Deficient Children Under the Age of 12 Years Completed NCT01721681 Phase 3
3 A Phase III Open, Multicentre Study to Investigate the Safety and Efficacy of BPL's High Purity FACTOR X in the Treatment of Factor X Deficient Subjects Undergoing Surgery Terminated NCT01086852 Phase 3
4 A Multicenter, Post-Marketing Registry Study of COAGADEX® in the Peri-operative Management of Patients With Moderate or Severe Hereditary Factor X Deficiency Undergoing Major Surgery Recruiting NCT03161626 Coagadex
5 Cross-sectional Study on Prevalence of Coagulation Factors Deficiency in Children Attending Assiut University Children Hospital ( a One Year Study) Not yet recruiting NCT03273998

Search NIH Clinical Center for Factor X Deficiency

Cochrane evidence based reviews: factor x deficiency

Genetic Tests for Factor X Deficiency

Genetic tests related to Factor X Deficiency:

# Genetic test Affiliating Genes
1 Factor X Deficiency 29 F10

Anatomical Context for Factor X Deficiency

MalaCards organs/tissues related to Factor X Deficiency:

41
Liver, Testes, Lung, Skin, Spleen, Colon, Myeloid

Publications for Factor X Deficiency

Articles related to Factor X Deficiency:

(show top 50) (show all 388)
# Title Authors PMID Year
1
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. 9 38 8 71
8449937 1993
2
Molecular analysis of the genotype-phenotype relationship in factor X deficiency. 38 8 71
10746568 2000
3
Inherited factor X deficiency: molecular genetics and pathophysiology. 38 8 71
9198147 1997
4
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. 38 8 71
7669671 1995
5
Molecular defect (Gla+14----Lys) and its functional consequences in a hereditary factor X deficiency (factor X "Vorarlberg"). 38 8 71
1973167 1990
6
Molecular characterization of human factor XSan Antonio. 38 8 71
2790181 1989
7
Factor X Stockton: a mild bleeding diathesis associated with an active site mutation in factor X. 8 71
8845463 1996
8
Factor XKetchikan: a variant molecule in which Gly replaces a Gla residue at position 14 in the light chain. 8 71
7860069 1995
9
Factor XSanto Domingo. Evidence that the severe clinical phenotype arises from a mutation blocking secretion. 8 71
1939653 1991
10
Molecular defect in coagulation factor XFriuli results from a substitution of serine for proline at position 343. 8 71
1985698 1991
11
Factor X Roma: a congenital factor X variant defective at different degrees in the intrinsic and the extrinsic activation. 8 71
3408671 1988
12
Lupus anticoagulant associated with transient severe factor X deficiency: a report of two patients presenting with major bleeding complications. 38 8
12752106 2003
13
Gene mutations and three-dimensional structural analysis in 13 families with severe factor X deficiency. 38 8
12028042 2002
14
A family with hereditary factor X deficiency with a point mutation Gla32 to Gln in the Gla domain (factor X Tokyo). 38 71
10468877 1999
15
Congenital factor X deficiency: spectrum of bleeding symptoms in 32 Iranian patients. 38 8
9695984 1998
16
Congenital coagulopathies and pregnancy: report of four pregnancies in a factor X-deficient woman. 38 8
8192155 1994
17
Molecular genetic analysis of factor X deficiency: gene deletion and germline mosaicism. 38 8
1997381 1991
18
Partial gene deletion in a family with factor X deficiency. 38 8
2567188 1989
19
Severe congenital factor X deficiency with intracranial haemorrhage. 38 8
3732313 1986
20
Congenital factor X deficiency and incomplete transverse paralysis. 38 8
7277652 1981
21
Mechanism of factor X deficiency in systemic amyloidosis. 38 8
7207512 1981
22
Congenital factor X deficiency in Japan. 38 8
7233424 1981
23
Factor X deficiency in primary amyloidosis: resolution after splenectomy. 38 8
492235 1979
24
Syndrome of acquired factor X deficiency and systemic amyloidosis in vivo studies of the metabolic fate of factor X. 38 8
865580 1977
25
Canine factor X (Stuart-Prower factor) deficiency. 38 8
4755433 1973
26
Congenital haemorrhagic condition similar but not identical to factor X deficiency. A haemorrhagic state due to an abnormal factor X? 38 8
5450692 1970
27
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. 38 6
27197801 2016
28
Complex history of the discovery and characterization of congenital factor X deficiency. 38 6
25875733 2015
29
Six characters in search of an author: the history of the nomenclature of coagulation factors. 8
12780784 2003
30
Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes. 8
9683596 1998
31
Factor XSt. Louis II. Identification of a glycine substitution at residue 7 and characterization of the recombinant protein. 71
8910490 1996
32
The structural gene for human coagulation factor X is located on chromosome 13q34. 8
4042693 1985
33
Factor X Padua: a 'new' congenital factor X abnormality with a defect only in the extrinsic system. 8
3923765 1985
34
A family with heterozygous factor X Friuli defect outside Friuli. 8
6824795 1983
35
Deficiency of coagulation factors VII and X associated with deletion of a chromosome 13 (q34). Evidence from two cases with 46,XY,t(13;Y)(q11;q34). 8
6985471 1982
36
Partial 4q duplication due to inherited der(13),t(4;13)(q26;q34)mat in a girl with a deficiency of factor X. 8
6985462 1980
37
Fletcher factor deficiency: report of a new family. 8
694428 1978
38
Factor X Friuli coagulation disorder. The demise of the index patient. 8
808943 1975
39
Abnormal factor X(factor X Friuli) coagulation disorder. 8
4196477 1973
40
Further studies on the abnormal factor X (factor X Friuli) coagulation disorder: a report of another family. 8
4995085 1971
41
A "new" congenital haemorrhagic condition due to the presence of an abnormal factor X (factor X Friuli): study of a large kindred. 8
4989292 1970
42
HEREDITARY DEFICIENCIES OF CLOTTING FACTORS VII AND X ASSOCIATED WITH CAROTID-BODY TUMORS. 8
14062129 1964
43
Stuart clotting defect. I. Segregation of an hereditary hemorrhagic state from the heterogeneous group heretofore called stable factor (SPCA, proconvertin, factor VII) deficiency. 8
13406063 1957
44
Stuart clotting defect. II. Genetic aspects of a new hemorrhagic state. 8
13406064 1957
45
A new coagulation defect. 8
13342365 1956
46
Congenital hypoproconvertinemia. 8
13134245 1953
47
The clinical significance of the lack of arterial or venous thrombosis in patients with congenital prothrombin or FX deficiency. 9 38
19412729 2010
48
Clinical audit of inherited bleeding disorders in a developing country. 9 38
20090222 2010
49
Menorrhagia and reproductive health in rare bleeding disorders: a study from the Indian subcontinent. 9 38
18803553 2009
50
[Inherited coagulation factor X deficiency caused by two novel mutations in factor X gene]. 9 38
15569527 2004

Variations for Factor X Deficiency

ClinVar genetic disease variations for Factor X Deficiency:

6 (show all 44)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 F10 NM_000504.4(F10): c.1096C> T (p.Arg366Cys) single nucleotide variant Pathogenic rs104894392 13:113803460-113803460 13:113149146-113149146
2 F10 NM_000504.4(F10): c.814del (p.Ile271_Leu272insTer) deletion Pathogenic rs387906506 13:113801758-113801758 13:113147444-113147444
3 F10 F10, GLU14LYS single nucleotide variant Pathogenic
4 F10 F10, VAL298MET undetermined variant Pathogenic
5 F10 F10, PRO343SER single nucleotide variant Pathogenic
6 F10 F10, G-A, -20 single nucleotide variant Pathogenic
7 F10 NM_000504.4(F10): c.859A> T (p.Arg287Trp) single nucleotide variant Pathogenic rs121964948 13:113801804-113801804 13:113147490-113147490
8 F10 F10, SER334PRO undetermined variant Pathogenic
9 F10 F10, ASP282ASN undetermined variant Pathogenic
10 F10 F10, GLU7GLY single nucleotide variant Pathogenic
11 F10 Factor X Ketchikan single nucleotide variant Pathogenic
12 F10 F10, GLU32GLN single nucleotide variant Pathogenic
13 F10 F10, THR318MET undetermined variant Pathogenic
14 F10 NM_000504.4(F10): c.633C> G (p.Thr211=) single nucleotide variant Uncertain significance rs140852978 13:113798295-113798295 13:113143981-113143981
15 F10 NM_000504.4(F10): c.747+11G> A single nucleotide variant Uncertain significance rs376728587 13:113798420-113798420 13:113144106-113144106
16 F10 NM_000504.4(F10): c.348C> T (p.Phe116=) single nucleotide variant Uncertain significance rs747030511 13:113793762-113793762 13:113139448-113139448
17 F10 NM_000504.4(F10): c.7C> T (p.Arg3Cys) single nucleotide variant Uncertain significance rs149972574 13:113777176-113777176 13:113122862-113122862
18 F10 NM_000504.4(F10): c.60C> T (p.Leu20=) single nucleotide variant Uncertain significance rs3211718 13:113777229-113777229 13:113122915-113122915
19 F10 NM_000504.4(F10): c.396C> T (p.Asp132=) single nucleotide variant Uncertain significance rs111737184 13:113795258-113795258 13:113140944-113140944
20 F10 NM_000504.4(F10): c.584C> G (p.Pro195Arg) single nucleotide variant Uncertain significance rs886050002 13:113798246-113798246 13:113143932-113143932
21 F10 NM_000504.4(F10): c.878C> T (p.Thr293Met) single nucleotide variant Uncertain significance rs752412971 13:113803242-113803242 13:113148928-113148928
22 F10 NM_000504.4(F10): c.57G> A (p.Leu19=) single nucleotide variant Uncertain significance rs370154986 13:113777226-113777226 13:113122912-113122912
23 F10 NM_000504.4(F10): c.257-12C> T single nucleotide variant Uncertain significance rs372691873 13:113793659-113793659 13:113139345-113139345
24 F10 NM_000504.4(F10): c.1215C> T (p.Ala405=) single nucleotide variant Uncertain significance rs770904651 13:113803579-113803579 13:113149265-113149265
25 F10 NM_000504.4(F10): c.1226C> T (p.Thr409Ile) single nucleotide variant Uncertain significance rs775241064 13:113803590-113803590 13:113149276-113149276
26 F10 NM_000504.4(F10): c.872G> A (p.Arg291Gln) single nucleotide variant Uncertain significance rs149212700 13:113803236-113803236 13:113148922-113148922
27 F10 NM_000504.4(F10): c.1043G> A (p.Trp348Ter) single nucleotide variant Uncertain significance 13:113803407-113803407 13:113149093-113149093
28 F10 NM_000504.4(F10): c.399C> T (p.Asn133=) single nucleotide variant Likely benign rs5962 13:113795261-113795261 13:113140947-113140947
29 F10 ; F7 NM_000131.4(F7): c.*533A> C single nucleotide variant Likely benign rs116688254 13:113773855-113773855 13:113119541-113119541
30 F10 ; F7 NM_000131.4(F7): c.*1240C> G single nucleotide variant Likely benign rs3093256 13:113774562-113774562 13:113120248-113120248
31 F10 ; F7 NM_000131.4(F7): c.*82T> C single nucleotide variant Likely benign rs368359845 13:113773404-113773404 13:113119090-113119090
32 F10 ; F7 NM_000131.4(F7): c.*888G> A single nucleotide variant Likely benign rs79733913 13:113774210-113774210 13:113119896-113119896
33 F10 ; F7 NM_000131.4(F7): c.*1146A> G single nucleotide variant Likely benign rs3093255 13:113774468-113774468 13:113120154-113120154
34 F10 NM_000504.4(F10): c.90G> C (p.Gln30His) single nucleotide variant Likely benign rs5961 13:113783785-113783785 13:113129471-113129471
35 F10 NM_000504.4(F10): c.574G> A (p.Gly192Arg) single nucleotide variant Likely benign rs3211783 13:113798236-113798236 13:113143922-113143922
36 F10 ; F7 NM_000131.4(F7): c.*639G> A single nucleotide variant Likely benign rs3093250 13:113773961-113773961 13:113119647-113119647
37 F10 ; F7 NM_000131.4(F7): c.*673A> G single nucleotide variant Likely benign rs3093251 13:113773995-113773995 13:113119681-113119681
38 F10 ; F7 NM_000504.4(F10): c.-40C> T single nucleotide variant Likely benign rs3212994 13:113777130-113777130 13:113122816-113122816
39 F10 ; F7 NM_000131.4(F7): c.*1275A> G single nucleotide variant Likely benign rs3093257 13:113774597-113774597 13:113120283-113120283
40 F10 ; F7 NM_000131.4(F7): c.*1649G> A single nucleotide variant Likely benign rs3093259 13:113774971-113774971 13:113120657-113120657
41 F10 NM_000504.4(F10): c.424G> A (p.Glu142Lys) single nucleotide variant Likely benign rs61753266 13:113795286-113795286 13:113140972-113140972
42 F10 NM_000504.4(F10): c.792C> T (p.Thr264=) single nucleotide variant Benign rs5960 13:113801737-113801737 13:113147423-113147423
43 F10 ; F7 NM_000131.4(F7): c.*770G> A single nucleotide variant Benign rs3093253 13:113774092-113774092 13:113119778-113119778
44 F10 ; F7 NM_000131.4(F7): c.1238G> A (p.Arg413Gln) single nucleotide variant Benign rs6046 13:113773159-113773159 13:113118845-113118845

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

74 (show all 26)
# Symbol AA change Variation ID SNP ID
1 F10 p.Glu47Gly VAR_065428 rs121964943
2 F10 p.Gly51Val VAR_065429 rs751782758
3 F10 p.Glu54Gly VAR_065430 rs121964944
4 F10 p.Glu54Lys VAR_065431 rs121964939
5 F10 p.Glu72Gln VAR_065432 rs121964945
6 F10 p.Glu91Lys VAR_065433 rs147732975
7 F10 p.Cys149Tyr VAR_065435
8 F10 p.Cys151Tyr VAR_065436
9 F10 p.Gly289Arg VAR_065437 rs121964946
10 F10 p.Glu304Lys VAR_065438 rs747292771
11 F10 p.Asp322Asn VAR_065439 rs121964942
12 F10 p.Arg327Trp VAR_065440 rs770119164
13 F10 p.Val338Met VAR_065441 rs121964947
14 F10 p.Glu350Lys VAR_065442 rs372309538
15 F10 p.Thr358Met VAR_065443 rs768222784
16 F10 p.Gly363Ser VAR_065444
17 F10 p.Arg366Cys VAR_065445 rs104894392
18 F10 p.Ser374Pro VAR_065446 rs121964941
19 F10 p.Pro383Ser VAR_065447 rs121964940
20 F10 p.Cys390Phe VAR_065448 rs199778916
21 F10 p.Cys404Arg VAR_065449
22 F10 p.Gly406Ser VAR_065450 rs376163818
23 F10 p.Gly420Arg VAR_065451 rs750759634
24 F10 p.Lys448Asn VAR_065452
25 F10 p.Val382Ala VAR_072751
26 F10 p.Gly421Asp VAR_072752 rs758726161

Expression for Factor X Deficiency

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

Pathways for Factor X Deficiency

Pathways related to Factor X Deficiency according to KEGG:

37
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

Pathways related to Factor X Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.14 VWF TFPI SERPINC1 PROS1 F9 F7
2
Show member pathways
12.58 TFPI SERPINC1 PROS1 F9 F7 F5
3
Show member pathways
11.9 VWF TFPI SERPINC1 PROS1 F9 F7
4
Show member pathways
11.8 PROS1 F9 F7 F2 F10
5 11.51 VWF TFPI SERPINC1 PROS1 F9 F7
6 10.83 PROS1 F9 F7 F2 F10

GO Terms for Factor X Deficiency

Cellular components related to Factor X Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.96 TFPI SERPINC1 PROS1 F9 F7 F5
2 extracellular region GO:0005576 9.9 VWF TFPI SERPINC1 PROS1 F9 F7
3 blood microparticle GO:0072562 9.65 SERPINC1 PROS1 F2
4 platelet alpha granule lumen GO:0031093 9.58 VWF PROS1 F5
5 platelet alpha granule GO:0031091 9.43 VWF F5
6 endoplasmic reticulum lumen GO:0005788 9.43 SERPINC1 F9 F7 F5 F2 F10
7 intrinsic component of external side of plasma membrane GO:0031233 9.37 F3 F10
8 serine-type peptidase complex GO:1905286 9.32 F7 F3
9 Golgi lumen GO:0005796 9.02 PROS1 F9 F7 F2 F10
10 plasma membrane GO:0005886 10.2 TFPI SERPINC1 PROS1 GML F9 F7

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.92 F9 F7 F2 F11 F10
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 PROS1 F9 F7 F5 F2 F10
3 negative regulation of endopeptidase activity GO:0010951 9.71 TFPI SERPINC1 PROS1
4 hemostasis GO:0007599 9.7 VWF TFPI SERPINC1 PROS1 F9 F7
5 platelet degranulation GO:0002576 9.67 VWF PROS1 F5
6 blood coagulation, intrinsic pathway GO:0007597 9.56 VWF F9 F2 F11
7 regulation of blood coagulation GO:0030193 9.54 SERPINC1 F2 F11
8 fibrinolysis GO:0042730 9.51 PROS1 F2
9 negative regulation of blood coagulation GO:0030195 9.48 TFPI PROS1
10 positive regulation of blood coagulation GO:0030194 9.46 F7 F2
11 blood coagulation, extrinsic pathway GO:0007598 9.46 TFPI F7 F3 F10
12 positive regulation of positive chemotaxis GO:0050927 9.43 F7 F3
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.4 F7 F3
14 blood coagulation GO:0007596 9.36 VWF TFPI SERPINC1 PROS1 F9 F7

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

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.72 PROS1 F9 F7 F2 F10
2 peptidase activity GO:0008233 9.55 F9 F7 F2 F11 F10
3 protease binding GO:0002020 9.43 VWF SERPINC1 F3
4 serine-type peptidase activity GO:0008236 9.35 F9 F7 F2 F11 F10
5 serine-type endopeptidase activity GO:0004252 9.1 F9 F7 F3 F2 F11 F10

Sources for Factor X Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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