FA10D
MCID: FCT003
MIFTS: 61

Factor X Deficiency (FA10D) malady

Categories: Genetic diseases, Rare diseases, Blood diseases

Aliases & Classifications for Factor X Deficiency

Aliases & Descriptions for Factor X Deficiency:

Name: Factor X Deficiency 54 12 50 24 25 66 13 52 42 14 69
Stuart-Prower Factor Deficiency 50 24 25 56 66
F10 Deficiency 50 25 66
Congenital Stuart Factor Deficiency 25 56
Factor 10 Deficiency 66 29
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
Fa10d 66

Characteristics:

Orphanet epidemiological data:

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

HPO:

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


Classifications:



External Ids:

OMIM 54 227600
Disease Ontology 12 DOID:2222
MeSH 42 D005171
SNOMED-CT 64 76642003
Orphanet 56 ORPHA328
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 hemarthrosis and membranoproliferative glomerulonephritis, and has symptoms including epistaxis, gingival bleeding and intracranial hemorrhage. 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 Epinephrine and Hyaluronic acid 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... (227600) more...

UniProtKB/Swiss-Prot : 66 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 : 71 Factor X, also known by the eponym Stuart–Prower factor, is an enzyme (EC 3.4.21.6) of the coagulation... 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 131)
id Related Disease Score Top Affiliating Genes
1 hemarthrosis 29.7 F2 F3
2 membranoproliferative glomerulonephritis 29.1 F2 F3 F9 SERPINC1 VWF
3 amyloidosis 10.3
4 congenital insensitivity to pain with severe intellectual disability 10.3 F2 F5
5 porphyria 10.3 F2 F7
6 lubinsky syndrome 10.3 F2 F5
7 high anorectal malformation 10.2 F10 VWF
8 supraumbilical midabdominal raphe and facial cavernous hemangiomas 10.2 F2 F5
9 hendra virus infection 10.2 F2 F3 F5
10 seminoma 10.2 F2 F3 F7
11 dyskinetic cerebral palsy 10.2 F11 F2 F3
12 von willibrand disease, type 3 10.2 F7 VWF
13 oxyphilic adenoma 10.2 F2 F5
14 invasive pneumococcal disease, recurrent isolated, 1 10.2 F10 F2 F5
15 low anorectal malformation 10.2 F2 F3 F5
16 alpha-2-macroglobulin deficiency 10.2 F2 F3 VWF
17 miller-dieker lissencephaly syndrome 10.2 F2 SERPINC1
18 sporotrichosis 10.2 F2 F3
19 acromegaloid hypertrichosis syndrome 10.2 F11 F9 VWF
20 sertoli cell tumor 10.2 F3 SERPINC1
21 stt3a-cdg and stt3b-cdg 10.2 F5 SERPINC1
22 hereditary endotheliopathy, retinopathy, nephropathy, and stroke 10.2 F10 F3 SERPINC1
23 influenza 10.2 F2 F3 SERPINC1
24 stroke, ischemic 10.2 F2 F3 F5 F7
25 freiberg's disease 10.2 F2 F3 SERPINC1
26 mixed hepatoblastoma 10.2 F2 F3 SERPINC1
27 dmd-related dilated cardiomyopathy 10.2 F2 F3 SERPINC1
28 spinal cord lipoma 10.1 F2 F3 SERPINC1
29 midline cystocele 10.1 F2 F3 SERPINC1
30 vascular erectile tumor 10.1 F2 F5 SERPINC1
31 ductal carcinoma in situ 10.1 F2 F3 SERPINC1
32 acrodysplasia with ossification abnormalities, short stature and fibular hypoplasia 10.1 F11 F3 F5 F9
33 small intestinal l-cell glucagon-like peptide producing tumor 10.1 F2 VWF
34 left-right axis malformations 10.1 F2 F5 SERPINC1
35 lymphocytic colitis 10.1 F2 F5 SERPINC1
36 hereditary alpha tryptasemia syndrome 10.1 F2 F3 SERPINC1
37 central retinal artery occlusion 10.1 F2 F3 SERPINC1
38 bullous skin disease 10.1 F2 F5 SERPINC1
39 capillary hemangioma 10.1 F2 F3 SERPINC1
40 neuroaxonal dystrophy 10.1 F2 F5 SERPINC1
41 lynch syndrome 10.1 F2 F5 SERPINC1
42 mixed epithelial tumor of ovary 10.1 F2 SERPINC1
43 cryptosporidiosis 10.1 F2 F5 SERPINC1
44 angular blepharoconjunctivitis 10.1 F2 F5 SERPINC1
45 eagle syndrome 10.1 F2 F5 SERPINC1
46 hemolytic-uremic syndrome 10.1 F2 F3 SERPINC1
47 ophthalmia neonatorum 10.1 F2 F5 SERPINC1
48 granulomatous hepatitis 10.1 F2 F3 SERPINC1
49 peanut allergy 10.1 F2 SERPINC1
50 pineal region meningioma 10.1 F10 F7 F9 VWF

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 by clinical synopsis from OMIM:

227600

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 gingival bleeding 32 HP:0000225
3 intracranial hemorrhage 32 HP:0002170
4 menorrhagia 32 HP:0000132
5 prolonged partial thromboplastin time 32 HP:0003645
6 prolonged prothrombin time 32 HP:0008151
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 F2 F3 F5 F7 F9 SERPINC1
2 homeostasis/metabolism MP:0005376 9.9 F10 F11 F2 F3 F5 F7
3 embryo MP:0005380 9.8 F2 F3 F5 F9 SERPINC1 SSB
4 mortality/aging MP:0010768 9.7 VWF F10 F11 F2 F3 F5
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 top 50) (show all 327)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Epinephrine Approved, Vet_approved Phase 4,Phase 2 51-43-4 5816
2
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741 24759
3
Lidocaine Approved, Vet_approved Phase 4 137-58-6 3676
4
Exenatide Approved, Investigational Phase 4 141758-74-9 15991534
5
Cholecalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3 67-97-0 6221 10883523 5280795
6
Ergocalciferol Approved, Nutraceutical Phase 4,Phase 2,Phase 3 50-14-6 5280793
7
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
8
Phytonadione Approved, Nutraceutical Phase 4 84-80-0 4812 5284607
9 Coagulants Phase 4,Phase 3,Phase 2,Phase 1
10 Factor VIII Phase 4,Phase 1,Phase 2
11 Bone Density Conservation Agents Phase 4,Phase 2,Phase 3
12 Ergocalciferols Phase 4,Phase 2,Phase 3
13 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1
14 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1
15 vitamin d Phase 4,Phase 2,Phase 3
16 Vitamins Phase 4,Phase 2,Phase 3,Phase 1
17 Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
18 Hormones Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
19 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 2,Phase 3,Phase 1
20 Pharmaceutical Solutions Phase 4,Phase 3,Phase 2,Phase 1
21 Adjuvants, Immunologic Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
22 Antimetabolites Phase 4,Phase 3,Phase 1,Phase 2
23 Anticoagulants Phase 4,Phase 3,Phase 2
24 Hemostatics Phase 4,Phase 3,Phase 2
25 Thrombin Phase 4,Phase 3,Phase 2
26 Antifibrinolytic Agents Phase 4
27 Vitamin K 2 Phase 4
28 Vitamin MK 7 Phase 4
29 Antiviral Agents Phase 4,Phase 3,Phase 2,Phase 1
30 Antibodies Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
31 gamma-Globulins Phase 4,Phase 3,Phase 2
32 Immunoglobulins Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
33 Immunoglobulins, Intravenous Phase 4,Phase 3,Phase 2
34 Rho(D) Immune Globulin Phase 4,Phase 3,Phase 2
35 Anesthetics Phase 4
36 Anesthetics, Local Phase 4
37 Epinephryl borate Phase 4,Phase 2
38 Protective Agents Phase 4,Phase 2,Phase 3,Phase 1
39 Racepinephrine Phase 4,Phase 2
40 Viscosupplements Phase 4
41 Immunoglobulin G Phase 4,Phase 3,Phase 2,Phase 1
42 Calcium, Dietary Phase 4,Phase 2,Phase 3
43 Hypoglycemic Agents Phase 4,Phase 1,Phase 2,Early Phase 1
44 Hypolipidemic Agents Phase 4,Phase 1,Phase 2
45 Lipid Regulating Agents Phase 4,Phase 1,Phase 2
46 Anticholesteremic Agents Phase 4
47 Atorvastatin Calcium Phase 4 134523-03-8
48 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
49 Incretins Phase 4
50 Calciferol Nutraceutical Phase 4,Phase 2,Phase 3

Interventional clinical trials:

(show top 50) (show all 275)
id Name Status NCT ID Phase
1 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4
2 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4
3 The Role Of FGF23, Klotho, And Sclerostin In Kidney Stone Formers Unknown status NCT01526304 Phase 4
4 Efficacy and Safety of Prothromplex Total (Prothrombin Complex Concentrate) in Oral Anticoagulant Reversal Completed NCT01159210 Phase 4
5 Risk Factors for Vascular Calcifications in Hemodialysis Patients: to What Extent is Vitamin K2 Deficiency Involved? Completed NCT02876354 Phase 4
6 GH and Cardiovascular Risk Factors Completed NCT01877512 Phase 4
7 Effect of Somatropin on Left Ventricular Mass in Growth Hormone Deficient Adult Patients Completed NCT01562834 Phase 4
8 Omacor and Cardiovascular Risk Factors in HIV Patients on HAART Treatment Completed NCT00296153 Phase 4
9 Magnesium and Metabolic Syndrome Completed NCT00603499 Phase 4
10 Pharmacokinetics, Safety, and Tolerability of Subcutaneous GAMUNEX-C in Pediatric Subjects With Primary Immunodeficiency Completed NCT01465958 Phase 4
11 A Study to Find Out How Safe and Effective Gammaplex® is in Young People With Primary Immunodeficiency Completed NCT01289847 Phase 4
12 Hyaluronic Acid in Papillary Reconstruction Completed NCT02876276 Phase 4
13 Efficacy and Safety of Vivaglobin® in Previously Untreated Patients With Primary Immunodeficiency Completed NCT00520494 Phase 4
14 Modulation of Monocyte Activation by Atorvastatin in HIV Infection Active, not recruiting NCT01263938 Phase 4
15 SUbstition of PERioperative Albumin Deficiency Disorders Not yet recruiting NCT03167645 Phase 4
16 Pilot Study of Bydureon to Treat Diabetes in HIV-infected Adults Terminated NCT01791465 Phase 4
17 Safety and Efficacy in LPL-Deficient Subjects of AMT-011, an Adeno-Associated Viral Vector Expressing Human Lipoprotein Lipase [S447X] Unknown status NCT01109498 Phase 2, Phase 3
18 T-Cell Depletion and Stem Cell Transplant for Immune Deficiencies and Histiocytic Disorders Unknown status NCT00176826 Phase 2, Phase 3
19 A Study Investigating Treatment Factor X in People With Factor X Deficiency Completed NCT00930176 Phase 3
20 A Study to Investigate BPL's Factor X in the Prophylaxis of Bleeding in Children <12 Years Completed NCT01721681 Phase 3
21 Prothrombin Complex Concentrate for Anticoagulant Reversal Completed NCT00168077 Phase 3
22 The Effect of Vitamin D and Calcium on Bone in Pediatric HIV Completed NCT00724178 Phase 2, Phase 3
23 Efficacy and Safety of Human Lipoprotein Lipase (LPL)[S447X] Expressed by an Adeno-Associated Viral Vector in LPL-deficient Subjects Completed NCT00891306 Phase 2, Phase 3
24 Safety and Efficacy Study of Serostim® Human Immunodeficiency Virus-Associated Adipose Redistribution Syndrome Completed NCT01077960 Phase 3
25 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
26 Treating Depression in Coronary Artery Disease With Omega-3 Fatty Acids Completed NCT00981383 Phase 3
27 Efficacy, Safety and Pharmacokinetics of Gammaplex in Primary Immunodeficiency Diseases. Completed NCT00278954 Phase 3
28 Study of Subcutaneous Immune Globulin in Patients Requiring IgG Replacement Therapy Completed NCT00542997 Phase 3
29 Effectiveness of Paricalcitol in Reducing Parathyroid Hormone (PTH) Levels in X-linked Hypophosphatemic Rickets Completed NCT00417612 Phase 3
30 Tolerability and Safety of Immune Globulin Subcutaneous Solution (IGSC) and rHuPH20 in PID Completed NCT01175213 Phase 3
31 Rapid Infusion of Immune Globulin Intravenous (Human) In Primary Immunodeficiency Patients Completed NCT00220766 Phase 3
32 The Efavirenz (EFV) Central Nervous System Exposure Sub-study of Encore1 Completed NCT01451333 Phase 3
33 WENBIT - Western Norway B Vitamin Intervention Trial Completed NCT00354081 Phase 3
34 Study Comparing Lopinavir/Ritonavir (LPV/r) + Emtricitabine/Tenofovir Disoproxil Fumarate (FTC/TDF) With a Nucleoside Sparing Regimen Consisting of Lopinavir/Ritonavir + Raltegravir (RAL) Completed NCT00711009 Phase 3
35 Evaluation of a Lopinavir/Ritonavir Monotherapy vs a Triple Therapy as Maintenance Regimens in HIV-1 Infected Patients Completed NCT00946595 Phase 2, Phase 3
36 Study Comparing Efficacy and Safety of Darunavir Boosted With Ritonavir to HART With 2 NRTI and Darunavir Boosted With Ritonavir in HIV-1 Infected Patients ANRS136 Completed NCT00421551 Phase 3
37 BMS-Reyataz Study in Treatment in Naive Subjects to Compare the Efficacy and Safety Between Boosted Reyataz and Kaletra When in Combination With Fixed Dose Truvada Completed NCT00272779 Phase 3
38 Stem Cell Transplant for Inborn Errors of Metabolism Completed NCT00176904 Phase 2, Phase 3
39 The Effect of Vitamin D Supplementation on Cardiovascular Risk Factors Recruiting NCT02750293 Phase 3
40 Efficacy and Safety of KRN23 Versus Oral Phosphate and Active Vitamin D Treatment in Pediatric Patients With X Linked Hypophosphatemia (XLH) Recruiting NCT02915705 Phase 3
41 Effects of Interleukin-1 Beta on Low Testosterone Levels in Men With Obesity and Metabolic Syndrome Recruiting NCT02672592 Phase 3
42 DTaP-IPV-HB-PRP-T Combined Vaccine as a Primary Series and a 2nd Year of Life Booster in HIV-Exposed Infected and Uninfected Recruiting NCT02817451 Phase 3
43 Pivotal Phase 2b/3 ALVAC/Bivalent gp120/MF59 HIV Vaccine Prevention Safety and Efficacy Study in South Africa Recruiting NCT02968849 Phase 2, Phase 3
44 Allogeneic Stem Cell Transplantation for Children and Adolescents With Acute Lymphoblastic Leukaemia Recruiting NCT01949129 Phase 2, Phase 3
45 Open Label Study of KRN23 on Osteomalacia in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02537431 Phase 3
46 Study of KRN23 in Adults With X-linked Hypophosphatemia (XLH) Active, not recruiting NCT02526160 Phase 3
47 Pharmacokinetics (PK) and Safety of Subgam-VF in Primary Immunodeficiency Diseases Active, not recruiting NCT01884311 Phase 3
48 Neo Adjuvant Chemotherapy in Triple Negative Breast Cancer Active, not recruiting NCT01057069 Phase 2, Phase 3
49 Oxaliplatin, Leucovorin Calcium, and Fluorouracil With or Without Bevacizumab in Treating Patients Who Have Undergone Surgery for Stage II Colon Cancer Active, not recruiting NCT00217737 Phase 3
50 Trial of HDM/SCT Versus HDM + Bortezomib/SCT in AL Amyloidosis Suspended NCT02489500 Phase 3

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 221)
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
Successful Use of Four Factor-Prothrombin Complex Concentrate for Congenital Factor X Deficiency in the Setting of Neurosurgery. ( 27378481 )
2016
3
Pharmacokinetics of a high-purity plasma-derived factor X concentrate in subjects with moderate or severe hereditary factor X deficiency. ( 26879266 )
2016
4
A case of factor X deficiency in a Chihuahua dog. ( 27493287 )
2016
5
Experience of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency undergoing surgery. ( 27217097 )
2016
6
Efficacy, safety and pharmacokinetics of a new high-purity factor X concentrate in subjects with hereditary factor X deficiency. ( 27197801 )
2016
7
[Homozygous missense mutation p.Val298Met of F10 gene causing hereditary coagulation factor X deficiency in a Chinese pedigree]. ( 27264807 )
2016
8
Diagnostic Error of a Patient with Combined Inherited Factor VII and Factor X Deficiency due to Accidental Ingestion of a Diphacinone Rodenticide. ( 28164683 )
2016
9
Spectrum of factor X gene mutations in Iranian patients with congenital factor X deficiency. ( 26891460 )
2016
10
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
11
Synergistic effect of factor VII gene polymorphisms causing mild factor VII deficiency in a case of severe factor X deficiency. ( 26919454 )
2016
12
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
13
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
14
Use of prothrombin complex concentrate for prophylaxis of bleeding in acquired factor X deficiency associated with light-chain amyloidosis. ( 27416580 )
2016
15
Rare post-operative complications in a previously undiagnosed Congenital Factor X deficiency patient. ( 28028305 )
2016
16
Frequency of the p.Gly262Asp mutation in congenital Factor X deficiency. ( 26222694 )
2015
17
Molecular analysis of patients with severe congenital factor X deficiency: First report from north and northwest of Iran. ( 25984924 )
2015
18
Autologous stem cell transplantation in immunoglobulin light chain amyloidosis with factor X deficiency. ( 26218969 )
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
Neonatal onset of congenital factor X deficiency: a description of two novel mutations with 6-year follow-up. ( 26083982 )
2015
21
Importance of Pharmacokinetic Studies in the Management of Acquired Factor X Deficiency. ( 25782416 )
2015
22
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
23
Successful treatment of a noninhibitory antibody-mediated acquired factor X deficiency in a patient with marginal-zone lymphoma. ( 26273448 )
2015
24
Complex History of the Discovery and Characterization of Congenital Factor X Deficiency. ( 25875733 )
2015
25
Near fatal spontaneous intraperitoneal bleeding: A rare manifestation in a congenital factor X deficiency carrier. ( 25810617 )
2015
26
Surgical treatment for a paraplegic patient induced by congenital factor X deficiency. ( 26550274 )
2015
27
Utility of factor X concentrate for the treatment of acquired factor X deficiency in systemic light-chain amyloidosis. ( 24786460 )
2014
28
Acquired factor X deficiency developed four years after autologous transplantation in a patient with multiple myeloma associated with systemic AL amyloidosis. ( 24881922 )
2014
29
Acquired factor X deficiency associated with atypical AL-amyloidosis. ( 25130122 )
2014
30
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
31
Spontaneous spinal epidural hematoma in a patient with acquired Factor X deficiency secondary to systemic amyloid light-chain amyloidosis. ( 24974738 )
2014
32
Circumcision in Patients with Congenital Factor X Deficiency. ( 24972549 )
2014
33
Six novel missense mutations causing factor X deficiency and application of thrombin generation test. ( 23664564 )
2013
34
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
35
Life-threatening bleeding tendency provoked by an acquired isolated factor X deficiency associated with respiratory infection. ( 23463452 )
2013
36
Femur fracture in a woman with severe factor X deficiency - an experience using factor X concentrate in surgery. ( 24033840 )
2013
37
Acquired factor X deficiency in systemic amyloidosis: management of two cases. ( 24033815 )
2013
38
The clinical findings and prophylactic treatment in children with factor X deficiency. ( 23560890 )
2013
39
Factor X deficiency: a rare cause of puberty menorrhagia. ( 22696092 )
2013
40
Efficacy of prophylaxis and genotype-phenotype correlation in patients with severe Factor X deficiency in Iran. ( 21854511 )
2012
41
Acquired, non-amyloid related factor X deficiency: review of the literature. ( 23437437 )
2012
42
Factor X deficiency: an uncommon presentation of AL amyloidosis. ( 22651249 )
2012
43
Successful liver transplantation for a child with life-threatening recurrent bleeding episodes due to congenital factor X deficiency: a case report. ( 22506295 )
2012
44
Subgaleal hemorrhage in a neonate with factor X deficiency following a non-traumatic cesarean section. ( 22460599 )
2012
45
Factor X deficiency and pregnancy: case report and counselling. ( 21943166 )
2012
46
Factor X deficiency and pregnancy: preconception counselling and therapeutic options. ( 22151249 )
2012
47
Hemorrhage because of amyloid-related factor X deficiency after insertion of Tenckhoff catheter. ( 22991017 )
2012
48
Severe factor X deficiency in three unrelated Palestinian patients is caused by homozygosity for the mutation c302delG-correlation with thrombin generation and thromboelastometry. ( 22008904 )
2011
49
Abscess in bilateral ovarian haematomas in a girl with factor X deficiency, necessitating oopherectomy. ( 21040235 )
2011
50
Membranoproliferative glomerulonephritis and a rare bleeding disorder: Factor X deficiency. ( 20859684 )
2011

Variations for Factor X Deficiency

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

66 (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 9.92 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 9.37 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

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

(show all 15)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.97 F10 F11 F2 F5 F7 F9
2 ER to Golgi vesicle-mediated transport GO:0006888 9.8 F10 F2 F5 F7 F9
3 platelet activation GO:0030168 9.72 F2 F5 VWF
4 positive regulation of protein kinase B signaling GO:0051897 9.69 F10 F3 F7
5 signal peptide processing GO:0006465 9.67 F10 F2 F7 F9
6 blood coagulation, intrinsic pathway GO:0007597 9.65 F10 F11 F2 F9 VWF
7 blood coagulation GO:0007596 9.65 F10 F11 F2 F3 F5 F7
8 peptidyl-glutamic acid carboxylation GO:0017187 9.62 F10 F2 F7 F9
9 regulation of blood coagulation GO:0030193 9.61 F11 F2 SERPINC1
10 blood coagulation, extrinsic pathway GO:0007598 9.55 F10 F3 F7 F9 TFPI
11 positive regulation of blood coagulation GO:0030194 9.54 F2 F7
12 positive regulation of positive chemotaxis GO:0050927 9.52 F3 F7
13 positive regulation of platelet-derived growth factor receptor signaling pathway GO:0010641 9.48 F3 F7
14 response to vitamin K GO:0032571 9.46 F5 F7
15 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 9.17 F10 F11 F2 F3 F5 F7

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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