MCID: FCT003
MIFTS: 59

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 54 12 50 24 25 71 29 13 52 42 14 69
Stuart-Prower Factor Deficiency 50 24 25 56 71
F10 Deficiency 50 25 71
Congenital Stuart Factor Deficiency 25 56
Hereditary Factor X Deficiency Disease 69
Stuart Factor Deficiency, Congenital 50
Factor X Deficiency, Congenital 50
Congenital Factor X Deficiency 56
Disease, Stuart-Prower 12
Factor 10 Deficiency 71
Fa10d 71

Characteristics:

Orphanet epidemiological data:

56
congenital factor x deficiency
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM:

54
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 54 227600
Disease Ontology 12 DOID:2222
MeSH 42 D005171
SNOMED-CT 64 76642003
Orphanet 56 ORPHA328
UMLS via Orphanet 70 C0015519
ICD10 via Orphanet 34 D68.2
MedGen 40 C0015519
UMLS 69 C0015519

Summaries for Factor X Deficiency

NIH Rare Diseases : 50 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. last updated: 11/12/2015

MalaCards based summary : Factor X Deficiency, also known as stuart-prower factor deficiency, is related to hyperthyroidism and variably protease-sensitive prionopathy, and has symptoms including epistaxis, menorrhagia and gingival bleeding. 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. The drugs Thrombin and Menadione have been mentioned in the context of this disorder. Affiliated tissues include liver, lung and skin, and related phenotypes are cardiovascular system and homeostasis/metabolism

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 : 54
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 : 71 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 : 72 1C5M, 1EZQ, 1F0R, 1F0S, 1FAX, 1FJS, 1G2L, 1G2M, 1HCG, 1IOE, 1IQE, 1IQF, 1IQG, 1IQH, 1IQI, 1IQJ, 1IQK,... 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 149)
id Related Disease Score Top Affiliating Genes
1 hyperthyroidism 10.8 F2 F3
2 variably protease-sensitive prionopathy 10.7 F2 F5
3 porphyria 10.7 F2 F7
4 lockwood feingold syndrome 10.7 F2 F5
5 brain stem glioma 10.7 F2 F3
6 sporotrichosis 10.7 F2 F3
7 chronic inflammatory demyelinating polyneuritis 10.7 F2 F3
8 bile duct cystadenoma 10.7 F2 F5
9 mild hemophilia b 10.6 F10 VWF
10 optic nerve neoplasm 10.6 F10 F3
11 cavernous lymphangioma 10.6 F3 F5
12 autonomic neuropathy 10.6 F2 F9
13 primary pigmented nodular adrenocortical disease 10.6 F2 F5
14 von willebrand disease, type 1 10.6 F7 VWF
15 brain ependymoma 10.6 F2 VWF
16 central nervous system germ cell tumor 10.6 F2 F3 F7
17 46,xy ovotesticular disorder of sex development 10.6 F2 F3 F5
18 irak4 deficiency 10.5 F10 F2 F5
19 female breast cancer 10.5 F11 F2 F3
20 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 10.5 F10 F5
21 inherited blood coagulation disease 10.5 F2 F3 F5
22 moderately severe hemophilia b 10.5 F2 F3 F5
23 thrombomodulin anomalies, familial 10.5 F2 F3 F5
24 sagittal sinus thrombosis 10.5 F3 SERPINC1
25 egg allergy 10.5 F2 SERPINC1
26 arcus senilis 10.5 F11 F3
27 syndactyly, mesoaxial synostotic, with phalangeal reduction 10.5 F2 SERPINC1
28 von willibrand disease, type 3 10.5 F2 F3 VWF
29 littre gland carcinoma 10.4 F2 SERPINC1
30 stoll alembik finck syndrome 10.4 F5 SERPINC1
31 pilomyxoid astrocytoma 10.4 F2 SERPINC1
32 inferolateral myocardial infarct 10.4 F2 SERPINC1
33 homologous wasting disease 10.4 F2 F5
34 acro-pectoro-renal field defect 10.4 F11 F9 VWF
35 hereditary amyloidosis 10.4 F10 F3 SERPINC1
36 pyridoxine deficiency anemia 10.4 F2 F3 SERPINC1
37 fragile x syndrome type 2 10.3 F2 F3 SERPINC1
38 rectum neuroendocrine neoplasm 10.3 F2 F3 SERPINC1
39 midline cystocele 10.3 F2 F3 SERPINC1
40 amyloidosis 10.3
41 lymphatic system cancer 10.3 F2 F3 SERPINC1
42 lethal congenital contracture syndrome 10.3 F2 F3 SERPINC1
43 angelucci's syndrome 10.3 F2 SERPINC1
44 spinal cord lipoma 10.3 F2 F3 SERPINC1
45 xeroderma pigmentosum, group f 10.3 F9 SERPINC1
46 central retinal artery occlusion 10.3 F2 F3 SERPINC1
47 hepadnavirus infection 10.3 F2 F3 SERPINC1
48 syncope 10.3 F2 F5 SERPINC1
49 basilar artery insufficiency 10.3 F2 F3 VWF
50 superior limbic keratoconjunctivitis 10.3 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:

54

Head And Neck- Nose:
epistaxis

Skeletal:
hemarthrosis

Neurologic- Central Nervous System:
intracranial hemorrhage

Head And Neck- Mouth:
bleeding gums

Hematology:
bleeding diathesis

Genitourinary- Internal Genitalia Female:
menorrhagia

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

MGI Mouse Phenotypes related to Factor X Deficiency:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 10.02 F10 F11 F2 F3 F5 F7
2 homeostasis/metabolism MP:0005376 9.85 TFPI VWF F10 F11 F2 F3
3 embryo MP:0005380 9.8 F2 F3 F5 F9 SERPINC1 SSB
4 mortality/aging MP:0010768 9.7 SERPINC1 SSB TFPI VWF F10 F11
5 nervous system MP:0003631 9.28 F11 F2 F3 F5 RBM8A SERPINC1

Drugs & Therapeutics for Factor X Deficiency

Drugs for Factor X Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 28)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Thrombin Approved Phase 4,Phase 3
2
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
3
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
4 Anticoagulants Phase 4,Phase 3
5 Coagulants Phase 4,Phase 3
6 Hemostatics Phase 4,Phase 3
7 Antifibrinolytic Agents Phase 4
8 Micronutrients Phase 4
9 Trace Elements Phase 4
10 Vitamin K 2 Phase 4
11 Vitamin MK 7 Phase 4
12 Vitamins Phase 4
13 Menaquinone Nutraceutical Phase 4
14 naphthoquinone Nutraceutical Phase 4
15 Vitamin K Nutraceutical Phase 4
16 Hormones Phase 1, Phase 2
17 Mitogens Phase 1, Phase 2
18 Hypoglycemic Agents Phase 1, Phase 2
19 insulin Phase 1, Phase 2
20 Insulin, Globin Zinc Phase 1, Phase 2
21
Protein C Approved
22
Aspirin Approved, Vet_approved 50-78-2 2244
23 Hormone Antagonists
24 Hormones, Hormone Substitutes, and Hormone Antagonists
25 Factor VIII
26 Atorvastatin Calcium 134523-03-8
27 Citrate Nutraceutical
28
Citric Acid Nutraceutical, Vet_approved 77-92-9 311

Interventional clinical trials:

(show all 13)

id Name Status NCT ID Phase Drugs
1 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
2 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4 Menaquinone
3 A Study Investigating Treatment Factor X in People With Factor X Deficiency Completed NCT00930176 Phase 3
4 A Study to Investigate BPL's Factor X in the Prophylaxis of Bleeding in Children <12 Years Completed NCT01721681 Phase 3
5 Prothrombin Complex Concentrate for Anticoagulant Reversal Completed NCT00168077 Phase 3 Prothrombin Complex Concentrate
6 Safety & Efficacy of BPL's High Purity FACTOR X in Treatment of Factor X Deficient Subjects Undergoing Surgery Terminated NCT01086852 Phase 3
7 Treatment for Growth Failure in Patients With X-Linked Severe Combined Immunodeficiency: Phase 2 Study of Insulin-Like Growth Factor-1 Terminated NCT00490100 Phase 1, Phase 2 Increlex
8 Thrombin Generation Numerical Models Validation in Haemophilic Case Completed NCT02300519
9 Evaluation of Clot Stability Induced by Solulin: Evaluation of New Solulin Mutants Lacking Protein C Activation Capacity Completed NCT02911233
10 Evaluate the Effect of Growth Hormone (GH) Treatment on Fibroblast Growth Factor 23, a Known Phosphaturic Agent Completed NCT00334945
11 Joint Outcome Study Continuation for Children With Severe Factor VIII Deficiency Enrolling by invitation NCT01000844
12 Registry Study of COAGADEX® Patients With Moderate or Severe Hereditary Factor X Deficiency Undergoing Major Surgery Not yet recruiting NCT03161626 Coagadex
13 Thrombolysis and RIPC in Acute Ischemic Stroke Not yet recruiting NCT03218293

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:

id Genetic test Affiliating Genes
1 Factor X Deficiency 29 24 F10

Anatomical Context for Factor X Deficiency

MalaCards organs/tissues related to Factor X Deficiency:

39
Liver, Lung, Skin, Testes, Myeloid

Publications for Factor X Deficiency

Articles related to Factor X Deficiency:

(show top 50) (show all 222)
id Title Authors Year
1
Factor X Deficiency with Heterozygous Mutations of Novel p.G435S and Known p.G244R in a Patient Presenting with Severe Umbilical Hemorrhage. ( 28302935 )
2017
2
Factor VII and factor X deficiency in a child with a chromosome 13q duplication and deletion. ( 28580769 )
2017
3
[Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree]. ( 27264807 )
2016
4
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
5
Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. ( 26891460 )
2016
6
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
7
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
8
Use of prothrombin complex concentrate for prophylaxis of bleeding in acquired factor X deficiency associated with light-chain amyloidosis. ( 27416580 )
2016
9
A case of factor X deficiency in a Chihuahua dog. ( 27493287 )
2016
10
Pharmacokinetics of a high-purity plasma-derived factor X concentrate in subjects with moderate or severe hereditary factor X deficiency. ( 26879266 )
2016
11
Rare post-operative complications in a previously undiagnosed Congenital Factor X deficiency patient. ( 28028305 )
2016
12
Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery. ( 27217097 )
2016
13
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
14
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. ( 27197801 )
2016
15
Successful Use of Four Factor-Prothrombin Complex Concentrate for Congenital Factor X Deficiency in the Setting of Neurosurgery. ( 27378481 )
2016
16
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide. ( 28164683 )
2016
17
Importance of Pharmacokinetic Studies in the Management of Acquired Factor X Deficiency. ( 25782416 )
2015
18
Surgical treatment for a paraplegic patient induced by congenital factor X deficiency. ( 26550274 )
2015
19
A novel factor X gene mutation Val (GTC) 384Ala (GCC) in a Chinese family resulting in congenital factor X deficiency. ( 26309706 )
2015
20
Complex History of the Discovery and Characterization of Congenital Factor X Deficiency. ( 25875733 )
2015
21
Autologous stem cell transplantation in immunoglobulin light chain amyloidosis with factor X deficiency. ( 26218969 )
2015
22
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up. ( 26083982 )
2015
23
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
24
Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma. ( 26273448 )
2015
25
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. ( 26222694 )
2015
26
Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran. ( 25984924 )
2015
27
Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier. ( 25810617 )
2015
28
Acquired factor X deficiency associated with atypical AL-amyloidosis. ( 25130122 )
2014
29
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
30
Circumcision in Patients with Congenital Factor X Deficiency. ( 24972549 )
2014
31
Utility of factor X concentrate for the treatment of acquired factor X deficiency in systemic light-chain amyloidosis. ( 24786460 )
2014
32
Spontaneous spinal epidural hematoma in a patient with acquired Factor X deficiency secondary to systemic amyloid light-chain amyloidosis. ( 24974738 )
2014
33
Acquired factor X deficiency developed four years after autologous transplantation in a patient with multiple myeloma associated with systemic AL amyloidosis. ( 24881922 )
2014
34
Acquired factor X deficiency in systemic amyloidosis: management of two cases. ( 24033815 )
2013
35
Femur fracture in a woman with severe factor X deficiency - an experience using factor X concentrate in surgery. ( 24033840 )
2013
36
Factor X deficiency: a rare cause of puberty menorrhagia. ( 22696092 )
2013
37
Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection. ( 23463452 )
2013
38
The clinical findings and prophylactic treatment in children with factor X deficiency. ( 23560890 )
2013
39
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
40
Six novel missense mutations causing factor X deficiency and application of thrombin generation test. ( 23664564 )
2013
41
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran. ( 21854511 )
2012
42
Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report. ( 22506295 )
2012
43
Factor X deficiency: an uncommon presentation of AL amyloidosis. ( 22651249 )
2012
44
Hemorrhage because of amyloid-related factor X deficiency after insertion of Tenckhoff catheter. ( 22991017 )
2012
45
Factor X deficiency and pregnancy: preconception counselling and therapeutic options. ( 22151249 )
2012
46
Acquired, non-amyloid related factor X deficiency: review of the literature. ( 23437437 )
2012
47
Factor X deficiency and pregnancy: case report and counselling. ( 21943166 )
2012
48
Subgaleal hemorrhage in a neonate with factor X deficiency following a non-traumatic cesarean section. ( 22460599 )
2012
49
Factor X deficiency and intracranial bleeding: who is at risk? ( 21682820 )
2011
50
Acquired factor X deficiency in light chain amyloidosis: a report of 2 Korean cases. ( 21779187 )
2011

Variations for Factor X Deficiency

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

71 (show all 26)
id 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 all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1 F10 NM_000504.3(F10): c.1096C> T (p.Arg366Cys) single nucleotide variant Pathogenic rs104894392 GRCh37 Chromosome 13, 113803460: 113803460
2 F10 NM_000504.3(F10): c.813delC (p.Leu272Terfs) deletion Pathogenic rs387906506 GRCh37 Chromosome 13, 113801758: 113801758
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_000504.3(F10): c.859A> T (p.Arg287Trp) single nucleotide variant Pathogenic rs121964948 GRCh37 Chromosome 13, 113801804: 113801804
8 F10 F10, SER334PRO undetermined variant Pathogenic
9 F10 NM_000504.3(F10): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs61753266 GRCh37 Chromosome 13, 113795286: 113795286
10 F10 F10, ASP282ASN undetermined variant Pathogenic
11 F10 F10, GLU7GLY single nucleotide variant Pathogenic
12 F10 Factor X Ketchikan single nucleotide variant Pathogenic
13 F10 F10, GLU32GLN single nucleotide variant Pathogenic
14 F10; F7 NM_000131.4(F7): c.1238G> A (p.Arg413Gln) single nucleotide variant risk factor rs6046 GRCh37 Chromosome 13, 113773159: 113773159
15 F10 F10, THR318MET undetermined variant Pathogenic

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:

id 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
11.53 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:

id 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 9.65 F10 F11 F2 F3 F5 F7
3 Golgi lumen GO:0005796 9.46 F10 F2 F7 F9
4 platelet alpha granule GO:0031091 9.4 F5 VWF
5 intrinsic component of external side of plasma membrane GO:0031233 9.32 F10 F3
6 serine-type peptidase complex GO:1905286 9.26 F3 F7
7 endoplasmic reticulum lumen GO:0005788 9.1 F10 F2 F5 F7 F9 SERPINC1
8 plasma membrane GO:0005886 10.13 F10 F11 F2 F3 F5 F7

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

(show all 14)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.93 F10 F11 F2 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F5 F7 F9
3 positive regulation of protein kinase B signaling GO:0051897 9.69 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 9.61 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 9.52 F2 F7
11 positive regulation of positive chemotaxis GO:0050927 9.49 F3 F7
12 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F3 F7
13 response to vitamin K GO:0032571 9.46 F5 F7
14 hemostasis GO:0007599 9.32 F10 F11 F2 F3 F5 F7

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

id 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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