MCID: FCT003
MIFTS: 57

Factor X Deficiency

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor X Deficiency

MalaCards integrated aliases for Factor X Deficiency:

Name: Factor X Deficiency 57 12 76 53 25 75 29 13 55 6 44 15 73
Stuart-Prower Factor Deficiency 57 53 25 59 75
F10 Deficiency 57 53 25 75
Congenital Stuart Factor Deficiency 25 59
Hereditary Factor X Deficiency Disease 73
Stuart Factor Deficiency, Congenital 53
Factor X Deficiency, Congenital 53
Congenital Factor X Deficiency 59
Disease, Stuart-Prower 12
Factor 10 Deficiency 75
Deficiency, Factor X 40
Fa10d 75

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:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 227600
Disease Ontology 12 DOID:2222
MeSH 44 D005171
SNOMED-CT 68 76642003
Orphanet 59 ORPHA328
UMLS via Orphanet 74 C0015519
ICD10 via Orphanet 34 D68.2
MedGen 42 C0015519

Summaries for Factor X Deficiency

NIH Rare Diseases : 53 Factor X deficiency is a rare condition that affects the blood's ability to clot. The severity of the condition 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. Affected women 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 condition, generally occurs sporadically in people with no family history of the condition. Acquired factor X deficiency has a variety of causes including liver disease, vitamin K deficiency, exposure to certain medications that affect clotting, and cancers. 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. Treatment aims 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 vii deficiency. An important gene associated with Factor X Deficiency is F10 (Coagulation Factor X), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. Affiliated tissues include liver, lung and skin, and related phenotypes are abnormality of the musculature and epistaxis

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)

UniProtKB/Swiss-Prot : 75 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.

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.

Wikipedia : 76 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 151)
# Related Disease Score Top Affiliating Genes
1 hemarthrosis 29.6 F10 F7 F9 VWF
2 factor vii deficiency 29.5 F10 F2 F3 F7 F9
3 antiphospholipid syndrome 28.9 F10 F2 F3 F5 SERPINC1
4 disseminated intravascular coagulation 28.6 F2 F3 F5 F7 F9 SERPINC1
5 hemophilia 28.3 F2 F3 F7 F9 TFPI VWF
6 hemophilia a 28.1 F10 F11 F3 F5 F7 F9
7 thrombophilia 26.7 F10 F11 F2 F3 F5 F7
8 mesenteric vascular occlusion 10.8 F2 F7
9 cerebral falx meningioma 10.8 F2 F3
10 paracetamol poisoning 10.8 F2 F5
11 livedoid vasculopathy 10.7 F2 F5
12 femoral neuropathy 10.7 F2 F3
13 hemoglobin e disease 10.7 F2 F5
14 hantavirus pulmonary syndrome 10.7 F2 F3
15 mild hemophilia a 10.7 F10 VWF
16 anterior cranial fossa meningioma 10.6 F2 F3 F7
17 von willebrand disease, type 2 10.6 F7 VWF
18 catastrophic antiphospholipid syndrome 10.6 F3 F5
19 carotid artery thrombosis 10.6 F10 F3
20 cryptogenic cirrhosis 10.6 F2 F5
21 scott syndrome 10.6 F10 F2 F5
22 splenic disease 10.6 F2 F3
23 active peptic ulcer disease 10.6 F2 VWF
24 cerebral sinovenous thrombosis 10.5 F2 F3 F5
25 porencephaly 10.5 F2 F5
26 alcohol-related birth defect 10.5 F11 F2 F3
27 severe hemophilia a 10.5 F2 F3 F5
28 cardiac tamponade 10.5 F2 F9
29 thrombasthenia 10.5 F2 F3 F5
30 blood protein disease 10.4 F2 SERPINC1
31 alpha-2-plasmin inhibitor deficiency 10.4 F2 SERPINC1
32 von willebrand disease, type 1 10.4 F2 F3 VWF
33 sticky platelet syndrome 10.4 F5 SERPINC1
34 amyloidosis 10.4
35 anterior spinal artery syndrome 10.4 F2 SERPINC1
36 heparin-induced thrombocytopenia 10.3 F10 F3 SERPINC1
37 acquired von willebrand syndrome 10.3 F11 F9 VWF
38 subendocardial myocardial infarction 10.3 F2 SERPINC1
39 intestinal impaction 10.3 F2 F3 SERPINC1
40 fournier gangrene 10.3 F2 F3 SERPINC1
41 giant hemangioma 10.3 F2 F3 SERPINC1
42 blue toe syndrome 10.3 F2 F3 SERPINC1
43 intracranial embolism 10.3 F2 F3 SERPINC1
44 marantic endocarditis 10.3 F2 F3 SERPINC1
45 spinal cord infarction 10.3 F2 F5 SERPINC1
46 purpura fulminans 10.3 F2 F3 SERPINC1
47 hepatic infarction 10.3 F2 F3 SERPINC1
48 sudden sensorineural hearing loss 10.3 F2 F5 SERPINC1
49 hemorrhagic fever 10.2 F2 F3 SERPINC1
50 ischemic colitis 10.2 F2 F5 SERPINC1

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



Diseases related to Factor X Deficiency

Symptoms & Phenotypes for Factor X Deficiency

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
epistaxis

Genitourinary Internal Genitalia Female:
menorrhagia

Skeletal:
hemarthrosis

Head And Neck Mouth:
bleeding gums

Neurologic Central Nervous System:
intracranial hemorrhage

Hematology:
bleeding diathesis

Muscle Soft Tissue:
intramuscular hematomas
umbilical cord bleeding

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

Human phenotypes related to Factor X Deficiency:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 abnormality of the musculature 32 HP:0003011
2 epistaxis 32 HP:0000421
3 gingival bleeding 32 HP:0000225
4 intracranial hemorrhage 32 HP:0002170
5 menorrhagia 32 HP:0000132
6 prolonged partial thromboplastin time 32 HP:0003645
7 prolonged prothrombin time 32 HP:0008151
8 joint hemorrhage 32 HP:0005261
9 intramuscular hematoma 32 HP:0012233
10 reduced factor x activity 32 HP:0008321

MGI Mouse Phenotypes related to Factor X Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.96 F5 F7 F9 SERPINC1 F10 TFPI
2 embryo MP:0005380 9.7 F3 F5 F9 SERPINC1 SSB TFPI
3 mortality/aging MP:0010768 9.7 F3 F5 F7 F9 SERPINC1 SSB
4 nervous system MP:0003631 9.28 F3 F5 RBM8A SERPINC1 SSB F11

Drugs & Therapeutics for Factor X Deficiency

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Study Investigating Treatment Factor X in People With Factor X Deficiency Completed NCT00930176 Phase 3
2 A Study to Investigate Bio Product Laboratory Ltd (BPL's) Factor X in the Prophylaxis of Bleeding in Children <12 Years Completed NCT01721681 Phase 3
3 Safety & Efficacy of BPL's High Purity FACTOR X in Treatment of Factor X Deficient Subjects Undergoing Surgery Terminated NCT01086852 Phase 3
4 Registry Study of COAGADEX® Patients With Moderate or Severe Hereditary Factor X Deficiency Undergoing Major Surgery Recruiting NCT03161626 Coagadex

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, Lung, Skin, Testes, Myeloid, Fetal Liver

Publications for Factor X Deficiency

Articles related to Factor X Deficiency:

(show top 50) (show all 230)
# Title Authors Year
1
A patient with acquired factor X deficiency and metastatic transitional cell carcinoma of the bladder: is there a link between metastasis and factor deficiency in solid tumors? ( 29130135 )
2018
2
Use of a High-Purity Factor X Concentrate in Turkish Subjects with Hereditary Factor X Deficiency: Post Hoc Cohort Subanalysis of a Phase 3 Study. ( 29545231 )
2018
3
Staged Surgical Palliation for HLHS in a Girl with Severe Factor X Deficiency. ( 29577004 )
2018
4
Prophylactic treatment of bleeding episodes in children &amp;lt;12A years with moderate to severe hereditary factor X deficiency (FXD): Efficacy and safety of a high-purity plasma-derived factor X (pdFX) concentrate. ( 29707881 )
2018
5
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in women and girls with hereditary factor X deficiency. ( 29460388 )
2018
6
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion. ( 28580769 )
2017
7
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage. ( 28302935 )
2017
8
Posterior reversible encephalopathy syndrome following blood transfusion in a patient with factor X deficiency: Is it an unusual systemic manifestation of an adverse transfusion reaction? ( 29289486 )
2017
9
The long-term Outcomes after VAD plus SCT Therapy in a Patient with AL Amyloidosis and Severe Factor X Deficiency. ( 29093408 )
2017
10
Pharmacokinetics of a high-purity plasma-derived factor X concentrate in subjects with moderate or severe hereditary factor X deficiency. ( 26879266 )
2016
11
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
12
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. ( 27197801 )
2016
13
[Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree]. ( 27264807 )
2016
14
Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery. ( 27217097 )
2016
15
Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. ( 26891460 )
2016
16
A family with factor X deficiency from Argentina: a compound heterozygosis because of the combination of a new mutation (Gln138Arg) with an already known one (Glu350Lys). ( 27031279 )
2016
17
Use of prothrombin complex concentrate for prophylaxis of bleeding in acquired factor X deficiency associated with light-chain amyloidosis. ( 27416580 )
2016
18
Successful Use of Four Factor-Prothrombin Complex Concentrate for Congenital Factor X Deficiency in the Setting of Neurosurgery. ( 27378481 )
2016
19
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide. ( 28164683 )
2016
20
Intracranial Hemorrhage as the First Manifestation of Severe Congenital Factor X Deficiency in a 20-Month-Old Male: Case Report and Review of the Literature. ( 27098186 )
2016
21
A case of factor X deficiency in a Chihuahua dog. ( 27493287 )
2016
22
Rare post-operative complications in a previously undiagnosed Congenital Factor X deficiency patient. ( 28028305 )
2016
23
Prevalence of bleeding manifestations in 128 heterozygotes for Factor X deficiency, mainly for FX Friuli, matched vs 128 unaffected family members, during a long sequential observation period (23.5 years). ( 27124643 )
2016
24
Importance of Pharmacokinetic Studies in the Management of Acquired Factor X Deficiency. ( 25782416 )
2015
25
Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma. ( 26273448 )
2015
26
Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran. ( 25984924 )
2015
27
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. ( 26222694 )
2015
28
Factor X deficiency associated with compound heterozygosity involving a novel missense mutation at codon 38 from Val (GTC) to Leu (CTC) in exon 2. ( 25803519 )
2015
29
Complex History of the Discovery and Characterization of Congenital Factor X Deficiency. ( 25875733 )
2015
30
Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier. ( 25810617 )
2015
31
Surgical treatment for a paraplegic patient induced by congenital factor X deficiency. ( 26550274 )
2015
32
A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency. ( 26309706 )
2015
33
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up. ( 26083982 )
2015
34
Autologous stem cell transplantation in immunoglobulin light chain amyloidosis with factor X deficiency. ( 26218969 )
2015
35
Acquired factor X deficiency associated with atypical AL-amyloidosis. ( 25130122 )
2014
36
Circumcision in Patients with Congenital Factor X Deficiency. ( 24972549 )
2014
37
Successful perioperative use of prothrombin complex concentrate in the treatment of acquired factor X deficiency in the setting of systemic light-chain (AL) amyloidosis. ( 25060940 )
2014
38
Utility of factor X concentrate for the treatment of acquired factor X deficiency in systemic light-chain amyloidosis. ( 24786460 )
2014
39
Spontaneous spinal epidural hematoma in a patient with acquired Factor X deficiency secondary to systemic amyloid light-chain amyloidosis. ( 24974738 )
2014
40
Acquired factor X deficiency developed four years after autologous transplantation in a patient with multiple myeloma associated with systemic AL amyloidosis. ( 24881922 )
2014
41
Factor X deficiency: a rare cause of puberty menorrhagia. ( 22696092 )
2013
42
Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection. ( 23463452 )
2013
43
Acquired factor X deficiency in systemic amyloidosis: management of two cases. ( 24033815 )
2013
44
The clinical findings and prophylactic treatment in children with factor X deficiency. ( 23560890 )
2013
45
Pharmacokinetics and prophylactic use of FEIBA in a child with severe congenital factor X deficiency and recurrent spontaneous intracranial haemorrhage: a case report. ( 23902347 )
2013
46
Six novel missense mutations causing factor X deficiency and application of thrombin generation test. ( 23664564 )
2013
47
Femur fracture in a woman with severe factor X deficiency - an experience using factor X concentrate in surgery. ( 24033840 )
2013
48
Factor X deficiency and pregnancy: case report and counselling. ( 21943166 )
2012
49
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran. ( 21854511 )
2012
50
Factor X deficiency and pregnancy: preconception counselling and therapeutic options. ( 22151249 )
2012

Variations for Factor X Deficiency

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

75 (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
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

ClinVar genetic disease variations for Factor X Deficiency:

6
(show top 50) (show all 70)
# Gene Variation Type Significance SNP ID Assembly Location
1 F10 F10, G-A, -20 single nucleotide variant Pathogenic
2 F10 NM_000504.3(F10): c.1096C> T (p.Arg366Cys) single nucleotide variant Pathogenic rs104894392 GRCh37 Chromosome 13, 113803460: 113803460
3 F10 NM_000504.3(F10): c.1096C> T (p.Arg366Cys) single nucleotide variant Pathogenic rs104894392 GRCh38 Chromosome 13, 113149146: 113149146
4 F10 NM_000504.3(F10): c.813delC (p.Leu272Terfs) deletion Pathogenic rs387906506 GRCh37 Chromosome 13, 113801758: 113801758
5 F10 NM_000504.3(F10): c.813delC (p.Leu272Terfs) deletion Pathogenic rs387906506 GRCh38 Chromosome 13, 113147444: 113147444
6 F10 F10, GLU14LYS single nucleotide variant Pathogenic
7 F10 F10, VAL298MET undetermined variant Pathogenic
8 F10 F10, PRO343SER single nucleotide variant Pathogenic
9 F10 NM_000504.3(F10): c.859A> T (p.Arg287Trp) single nucleotide variant Pathogenic rs121964948 GRCh37 Chromosome 13, 113801804: 113801804
10 F10 NM_000504.3(F10): c.859A> T (p.Arg287Trp) single nucleotide variant Pathogenic rs121964948 GRCh38 Chromosome 13, 113147490: 113147490
11 F10 F10, SER334PRO undetermined variant Pathogenic
12 F10 F10, ASP282ASN undetermined variant Pathogenic
13 F10 F10, GLU7GLY single nucleotide variant Pathogenic
14 F10 Factor X Ketchikan single nucleotide variant Pathogenic
15 F10 F10, GLU32GLN single nucleotide variant Pathogenic
16 F10 F10, THR318MET undetermined variant Pathogenic
17 F10 NM_000504.3(F10): c.792C> T (p.Thr264=) single nucleotide variant Benign rs5960 GRCh38 Chromosome 13, 113147423: 113147423
18 F10 NM_000504.3(F10): c.792C> T (p.Thr264=) single nucleotide variant Benign rs5960 GRCh37 Chromosome 13, 113801737: 113801737
19 F10; F7 NM_000131.4(F7): c.*770G> A single nucleotide variant Benign rs3093253 GRCh37 Chromosome 13, 113774092: 113774092
20 F10; F7 NM_000131.4(F7): c.*770G> A single nucleotide variant Benign rs3093253 GRCh38 Chromosome 13, 113119778: 113119778
21 F10; F7 NM_000131.4(F7): c.*1275A> G single nucleotide variant Likely benign rs3093257 GRCh38 Chromosome 13, 113120283: 113120283
22 F10; F7 NM_000131.4(F7): c.*1275A> G single nucleotide variant Likely benign rs3093257 GRCh37 Chromosome 13, 113774597: 113774597
23 F10; F7 NM_000131.4(F7): c.*1649G> A single nucleotide variant Likely benign rs3093259 GRCh38 Chromosome 13, 113120657: 113120657
24 F10; F7 NM_000131.4(F7): c.*1649G> A single nucleotide variant Likely benign rs3093259 GRCh37 Chromosome 13, 113774971: 113774971
25 F10 NM_000504.3(F10): c.348C> T (p.Phe116=) single nucleotide variant Uncertain significance rs747030511 GRCh37 Chromosome 13, 113793762: 113793762
26 F10 NM_000504.3(F10): c.348C> T (p.Phe116=) single nucleotide variant Uncertain significance rs747030511 GRCh38 Chromosome 13, 113139448: 113139448
27 F10 NM_000504.3(F10): c.574G> A (p.Gly192Arg) single nucleotide variant Likely benign rs3211783 GRCh37 Chromosome 13, 113798236: 113798236
28 F10 NM_000504.3(F10): c.574G> A (p.Gly192Arg) single nucleotide variant Likely benign rs3211783 GRCh38 Chromosome 13, 113143922: 113143922
29 F10 NM_000504.3(F10): c.633C> G (p.Thr211=) single nucleotide variant Uncertain significance rs140852978 GRCh37 Chromosome 13, 113798295: 113798295
30 F10 NM_000504.3(F10): c.633C> G (p.Thr211=) single nucleotide variant Uncertain significance rs140852978 GRCh38 Chromosome 13, 113143981: 113143981
31 F10 NM_000504.3(F10): c.747+11G> A single nucleotide variant Uncertain significance rs376728587 GRCh37 Chromosome 13, 113798420: 113798420
32 F10 NM_000504.3(F10): c.747+11G> A single nucleotide variant Uncertain significance rs376728587 GRCh38 Chromosome 13, 113144106: 113144106
33 F10 NM_000504.3(F10): c.7C> T (p.Arg3Cys) single nucleotide variant Uncertain significance rs149972574 GRCh37 Chromosome 13, 113777176: 113777176
34 F10 NM_000504.3(F10): c.584C> G (p.Pro195Arg) single nucleotide variant Uncertain significance rs886050002 GRCh37 Chromosome 13, 113798246: 113798246
35 F10; F7 NM_000131.4(F7): c.*639G> A single nucleotide variant Likely benign rs3093250 GRCh37 Chromosome 13, 113773961: 113773961
36 F10; F7 NM_000131.4(F7): c.*639G> A single nucleotide variant Likely benign rs3093250 GRCh38 Chromosome 13, 113119647: 113119647
37 F10; F7 NM_000131.4(F7): c.*673A> G single nucleotide variant Likely benign rs3093251 GRCh37 Chromosome 13, 113773995: 113773995
38 F10; F7 NM_000131.4(F7): c.*673A> G single nucleotide variant Likely benign rs3093251 GRCh38 Chromosome 13, 113119681: 113119681
39 F10; F7 NM_000504.3(F10): c.-40C> T single nucleotide variant Likely benign rs3212994 GRCh37 Chromosome 13, 113777130: 113777130
40 F10; F7 NM_000504.3(F10): c.-40C> T single nucleotide variant Likely benign rs3212994 GRCh38 Chromosome 13, 113122816: 113122816
41 F10 NM_000504.3(F10): c.7C> T (p.Arg3Cys) single nucleotide variant Uncertain significance rs149972574 GRCh38 Chromosome 13, 113122862: 113122862
42 F10 NM_000504.3(F10): c.60C> T (p.Leu20=) single nucleotide variant Uncertain significance rs3211718 GRCh37 Chromosome 13, 113777229: 113777229
43 F10 NM_000504.3(F10): c.60C> T (p.Leu20=) single nucleotide variant Uncertain significance rs3211718 GRCh38 Chromosome 13, 113122915: 113122915
44 F10 NM_000504.3(F10): c.90G> C (p.Gln30His) single nucleotide variant Likely benign rs5961 GRCh37 Chromosome 13, 113783785: 113783785
45 F10 NM_000504.3(F10): c.90G> C (p.Gln30His) single nucleotide variant Likely benign rs5961 GRCh38 Chromosome 13, 113129471: 113129471
46 F10 NM_000504.3(F10): c.396C> T (p.Asp132=) single nucleotide variant Uncertain significance rs111737184 GRCh37 Chromosome 13, 113795258: 113795258
47 F10 NM_000504.3(F10): c.396C> T (p.Asp132=) single nucleotide variant Uncertain significance rs111737184 GRCh38 Chromosome 13, 113140944: 113140944
48 F10 NM_000504.3(F10): c.584C> G (p.Pro195Arg) single nucleotide variant Uncertain significance rs886050002 GRCh38 Chromosome 13, 113143932: 113143932
49 F10 NM_000504.3(F10): c.878C> T (p.Thr293Met) single nucleotide variant Uncertain significance rs752412971 GRCh37 Chromosome 13, 113803242: 113803242
50 F10 NM_000504.3(F10): c.878C> T (p.Thr293Met) single nucleotide variant Uncertain significance rs752412971 GRCh38 Chromosome 13, 113148928: 113148928

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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.1 F10 F11 F2 F3 F5 F7
2
Show member pathways
12.53 F10 F11 F2 F3 F5 F7
3 11.8 F10 F11 F2 F3 F5 F7
4
Show member pathways
11.7 F10 F2 F7 F9
5
Show member pathways
11.52 F10 F11 F2 F3 F5 F7
6 10.73 F10 F2 F7 F9

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 9.97 F11 F2 F3 F5 F7 F9
2 extracellular region GO:0005576 9.85 F10 F11 F2 F3 F5 F7
3 platelet alpha granule GO:0031091 9.4 F5 VWF
4 intrinsic component of external side of plasma membrane GO:0031233 9.32 F10 F3
5 serine-type peptidase complex GO:1905286 9.26 F3 F7
6 Golgi lumen GO:0005796 9.26 F10 F2 F7 F9
7 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F5 F7 F9 SERPINC1

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.91 F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.83 F10 F2 F5 F7 F9
3 positive regulation of protein kinase B signaling GO:0051897 9.7 F10 F3 F7
4 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
5 blood coagulation, intrinsic pathway GO:0007597 9.65 F10 F11 F2 F9 VWF
6 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F7
7 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
8 regulation of blood coagulation GO:0030193 9.58 F11 F2 SERPINC1
9 blood coagulation, extrinsic pathway GO:0007598 9.55 F10 F3 F7 F9 TFPI
10 positive regulation of blood coagulation GO:0030194 9.49 F2 F7
11 positive regulation of positive chemotaxis GO:0050927 9.48 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.46 F3 F7
13 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F7

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

# Name GO ID Score Top Affiliating Genes
1 peptidase activity GO:0008233 9.55 F10 F11 F2 F7 F9
2 heparin binding GO:0008201 9.5 F11 F2 SERPINC1
3 protease binding GO:0002020 9.43 F3 SERPINC1 VWF
4 serine-type peptidase activity GO:0008236 9.35 F10 F11 F2 F7 F9
5 serine-type endopeptidase activity GO:0004252 9.1 F10 F11 F2 F3 F7 F9

Sources for Factor X Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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