BDPLT11
MCID: BLD124
MIFTS: 63

Bleeding Disorder, Platelet-Type, 11 (BDPLT11)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 11

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 11:

Name: Bleeding Disorder, Platelet-Type, 11 56 25 13 71
Glycoprotein Vi Deficiency 56 12 52 25 73
Gp Vi Deficiency 56 12 52 25 73
Bdplt11 56 12 52 25 73
Platelet-Type Bleeding Disorder 11 12 29 6 15
Bleeding Diathesis Due to a Collagen Receptor Defect 52 25 58
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 52 58
Hemorrhage 43 71
Bleeding Disorder, Platelet-Type 11 73
Bleeding Disorder, Platelet Type 11 39
Platelet-Type Bleeding Disorder-11 52

Characteristics:

Orphanet epidemiological data:

58
bleeding diathesis due to a collagen receptor defect
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;
bleeding diathesis due to glycoprotein vi deficiency
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

31
bleeding disorder, platelet-type, 11:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 12 DOID:0111057
OMIM 56 614201
OMIM Phenotypic Series 56 PS231200
ICD10 32 D69.8
ICD10 via Orphanet 33 D69.8
MedGen 41 C3280120
UMLS 71 C0019080 C3280120

Summaries for Bleeding Disorder, Platelet-Type, 11

Genetics Home Reference : 25 Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).

MalaCards based summary : Bleeding Disorder, Platelet-Type, 11, also known as glycoprotein vi deficiency, is related to hemorrhagic disease and bernard-soulier syndrome, and has symptoms including muscle weakness, polydipsia and fatigue. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and B Cell Receptor Signaling Pathway (sino). The drugs Probucol and Glyburide have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and placenta, and related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has material basis in compound heterozygous mutation in the GP6 gene on chromosome 19q13.

NIH Rare Diseases : 52 Glycoprotein VI deficiency is a rare condition that decreases the body's ability to form blood clots. As a result, affected people may experience frequent nosebleeds and abnormally heavy or prolonged bleeding following minor injury or surgery. Women with the condition often have heavy or prolonged menstrual periods. Glycoprotein VI deficiency can be caused by changes (mutations ) in the GP6 gene and is inherited in an autosomal recessive manner. Some cases appear to be acquired (not caused by inherited gene mutations) and are often associated with autoimmune conditions. Treatment varies based on the severity of the condition and the associated signs and symptoms.

OMIM : 56 Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009). (614201)

UniProtKB/Swiss-Prot : 73 Bleeding disorder, platelet-type 11: A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.

Related Diseases for Bleeding Disorder, Platelet-Type, 11

Diseases in the Bleeding Disorder, Platelet-Type, 11 family:

Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 8
Bleeding Disorder, Platelet-Type, 13 Bleeding Disorder, Platelet-Type, 14
Bleeding Disorder, Platelet-Type, 9 Bleeding Disorder, Platelet-Type, 15
Bleeding Disorder, Platelet-Type, 18 Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 20 Bleeding Disorder, Platelet-Type, 21
Bleeding Disorder, Platelet-Type, 22

Diseases related to Bleeding Disorder, Platelet-Type, 11 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2909)
# Related Disease Score Top Affiliating Genes
1 hemorrhagic disease 33.0 P2RY12 GP6 GP1BA
2 bernard-soulier syndrome 31.8 ITGA2 GP6 GP1BA
3 von willebrand disease, type 1 31.8 GP6 GP1BA
4 thrombocytopenia due to platelet alloimmunization 31.3 SYK ITGA2 GP1BA
5 thrombosis 30.1 P2RY12 ITGA2 GP6 GP1BA
6 von willebrand's disease 29.9 P2RY12 ITGA2 GP6 GP1BA
7 intracranial thrombosis 29.8 GP6 GP1BA
8 fetal and neonatal alloimmune thrombocytopenia 29.8 ITGA2 GP1BA
9 thrombocytopenia 29.8 SYK PLCG2 ITGA2 GP6 GP1BA
10 thrombasthenia 29.8 ITGA2 GP1BA CD36
11 carotid artery thrombosis 29.4 GP6 GP1BA
12 coronary thrombosis 29.3 P2RY12 GP6 GP1BA
13 gray platelet syndrome 28.6 PLCG2 GP6 GP1BA CD36
14 hereditary hemorrhagic telangiectasia 12.7
15 hemorrhage, intracerebral 12.6
16 crimean-congo hemorrhagic fever 12.6
17 omsk hemorrhagic fever 12.6
18 hantavirus hemorrhagic fever with renal syndrome 12.6
19 argentine hemorrhagic fever 12.6
20 telangiectasia, hereditary hemorrhagic, type 1 12.6
21 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.6
22 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.6
23 marburg hemorrhagic fever 12.5
24 acute hemorrhagic leukoencephalitis 12.5
25 hemorrhagic cystitis 12.5
26 bolivian hemorrhagic fever 12.5
27 viral hemorrhagic fever 12.5
28 telangiectasia, hereditary hemorrhagic, type 2 12.5
29 telangiectasia, hereditary hemorrhagic, type 5 12.5
30 alkhurma hemorrhagic fever 12.5
31 ebola hemorrhagic fever 12.5
32 venezuelan hemorrhagic fever 12.5
33 lujo hemorrhagic fever 12.5
34 dengue hemorrhagic fever 12.5
35 korean hemorrhagic fever 12.5
36 telangiectasia, hereditary hemorrhagic, type 4 12.4
37 brazilian hemorrhagic fever 12.4
38 chapare hemorrhagic fever 12.4
39 hemorrhagic shock and encephalopathy syndrome 12.3
40 acute hemorrhagic conjunctivitis 12.3
41 telangiectasia, hereditary hemorrhagic, type 3 12.3
42 whitewater arroyo hemorrhagic fever 12.3
43 balkan hemorrhagic fever 12.3
44 hemorrhagic proctocolitis 12.2
45 cerebral amyloid angiopathy, cst3-related 12.2
46 acute hemorrhagic encephalitis 12.2
47 bilateral massive adrenal hemorrhage 12.2
48 pontine hemorrhage 12.2
49 cerebral amyloid angiopathy, app-related 12.2
50 diffuse alveolar hemorrhage 12.2

Comorbidity relations with Bleeding Disorder, Platelet-Type, 11 via Phenotypic Disease Network (PDN):


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypertension, Essential Intermediate Coronary Syndrome
Peripheral Vascular Disease Respiratory Failure

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 11:



Diseases related to Bleeding Disorder, Platelet-Type, 11

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 11

Human phenotypes related to Bleeding Disorder, Platelet-Type, 11:

31
# Description HPO Frequency HPO Source Accession
1 epistaxis 31 HP:0000421
2 bruising susceptibility 31 HP:0000978
3 prolonged bleeding time 31 HP:0003010
4 menorrhagia 31 HP:0000132
5 ecchymosis 31 HP:0031364

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
ecchymoses

Hematology:
prolonged bleeding time
menorrhagia
normal platelet morphology
bleeding, mild
postsurgical bleeding
more

Clinical features from OMIM:

614201

UMLS symptoms related to Bleeding Disorder, Platelet-Type, 11:


muscle weakness, polydipsia, fatigue, fever, edema, pruritus, nausea and vomiting, abdominal pain, chest pain, angina pectoris, hemoptysis, constipation, headache, syncope, diarrhea, pain, chronic pain, sciatica, halitosis, icterus, coughing, vertigo/dizziness, symptoms, dyspepsia, heartburn, gastrointestinal gas, pelvic pain, blood in stool, petechiae of skin, bloody nipple discharge, easy bleeding

GenomeRNAi Phenotypes related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.02 FCER1G GP1BA ITGA2 P2RY12 SYK

MGI Mouse Phenotypes related to Bleeding Disorder, Platelet-Type, 11:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.61 CD36 CLEC1B FCER1G GP1BA GP6 ITGA2
2 homeostasis/metabolism MP:0005376 9.28 CD36 CLEC1B FCER1G GP1BA GP6 ITGA2

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 11

Drugs for Bleeding Disorder, Platelet-Type, 11 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 893)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved, Investigational Phase 4 23288-49-5 4912
2
Glyburide Approved Phase 4 10238-21-8 3488
3
Nadolol Approved Phase 4 42200-33-9 39147
4
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
5
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
6
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
7
Prucalopride Approved Phase 4 179474-81-8
8
Rutin Approved, Experimental, Investigational Phase 4 153-18-4 5280805
9
Menthol Approved Phase 4 2216-51-5 16666
10
Borage oil Approved, Investigational Phase 4
11
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
12
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
13
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
14
Pantoprazole Approved Phase 4 102625-70-7 4679
15
Ranibizumab Approved Phase 4 347396-82-1 459903
16
Povidone Approved Phase 4 9003-39-8
17
Povidone-iodine Approved Phase 4 25655-41-8
18
Simvastatin Approved Phase 4 79902-63-9 54454
19
Somatostatin Approved, Investigational Phase 4 38916-34-6, 51110-01-1 53481605
20
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
21
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
22
Warfarin Approved Phase 4 81-81-2 6691 54678486
23
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
24
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
25
Tirofiban Approved Phase 4 144494-65-5 60947
26
Prazosin Approved Phase 4 19216-56-9 4893
27
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
28
Mefenamic acid Approved Phase 4 61-68-7 4044
29
Copper Approved, Investigational Phase 4 7440-50-8 27099
30
Calcium carbonate Approved, Investigational Phase 4 471-34-1
31
Sucralfate Approved Phase 4 54182-58-0
32
Dobutamine Approved Phase 4 34368-04-2 36811
33
Azithromycin Approved Phase 4 83905-01-5 447043 55185
34
Methylene blue Approved, Investigational Phase 4 61-73-4
35
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
36
Gliclazide Approved Phase 4 21187-98-4 3475
37
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 172198
38
Amlodipine Approved Phase 4 88150-42-9 2162
39
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
40
Ferrous fumarate Approved Phase 4 141-01-5
41
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
42
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
43
Hydroxocobalamin Approved Phase 4 13422-51-0 15589840 11953898
44
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
45
Tamoxifen Approved Phase 4 10540-29-1 2733526
46
Clobetasol Approved, Experimental, Investigational Phase 4 25122-41-2, 25122-46-7 32798 5311051
47
Ondansetron Approved Phase 4 99614-02-5 4595
48
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
49
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
50
Zoledronic Acid Approved Phase 4 118072-93-8 68740

Interventional clinical trials:

(show top 50) (show all 3994)
# Name Status NCT ID Phase Drugs
1 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
2 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
3 Effects of Intensive Insulin Therapy on Mortality, Morbidity and Long Term Neurologic Outcome in Neurosurgical Intensive Care Patients Unknown status NCT00505505 Phase 4 Insulin (Actrapid)
4 Impact of a Biological Glue (Evicel®) on the Peri Operative Bleeding in Total Knee Prothesis Surgery Unknown status NCT00983112 Phase 4 Human Fibrinogen and human thrombin (Evicel);Sodium Chlorure (Physiological saline)
5 Double Blind Placebo Controlled Multicenter Trial for Prevention of IMT Progression in the Ischemic Stroke Patients With High Risk of Cerebral Hemorrhage With Cilostazol and Probucol Unknown status NCT02483169 Phase 4 cilostazol;Probucol;Aspirin;placebo of cilostazol;Placebo of aspirin
6 Pilot Study Investigating the Use of Intravitreal Ranibizumab in the Treatment of Vitreous Hemorrhage in Proliferative Diabetic Retinopathy Unknown status NCT01824043 Phase 4 intravitreal ranibizumab injections
7 ED90 Determination of Carbetocin for the Prevention of Postpartum Uterine Atony in Women Undergoing an Elective Cesarean Delivery Unknown status NCT01579201 Phase 4 Carbetocin
8 A Multicenter, Double Blind, Factorial Design, Phase IV Trial to Compare the Efficacy and Safety of Cilostazol Long-term Treatment With Aspirin in Ischemic Stroke Patients With High Risk of Cerebral Hemorrhage for the Prevention of Cerebral Hemorrhage and Cardiovascular Events and to Compare the Preventive Effect of Probucol in the Same Patient Group With Non-drug User Group for the Prevention of Cardiovascular Events Unknown status NCT01013532 Phase 4 Cilostazol;Probucol;Aspirin;placebo of cilostazol;placebo of aspirin
9 Phase IV Study Comparing Helicobacter Pylori Empiric Eradication With Test-Guided Treatment in Patients With Peptic Ulcer Bleeding Unknown status NCT00687336 Phase 4
10 Multicenter Randomized Clinical Trial to Evaluate the Safety and Effectiveness of Cavaterm TM Thermal Balloon Endometrial Ablation in Women With Dysfunctional Uterine Bleeding Compared to Transcervical Resection of the Endometrium (TCRE) Unknown status NCT00549159 Phase 4
11 The Effects of High Doze Tranexamic Acid Application on Hemorrhage, Blood Transfusion, Fibrin Degradation Products, and Kidney Functions for Total Hip Arthroplasty Unknown status NCT02094066 Phase 4 tranexamic acid;serum physiologic
12 An Open-Label Prospective Study to Evaluate the Safety and Efficacy of Double or Triple Concentrated Intravenous Nicardipine for Treatment of Hypertension in Patients With Ischemic Stroke, Intracerebral Hemorrhage or Subarachnoid Hemorrhage Unknown status NCT00325793 Phase 4 Nicardipine
13 A Double-blind Randomized Trial to Compare the Efficacy of Intermittent Pneumatic Compression (IPC) With and Without Early Anticoagulant Treatment for Prevention of Venous Thromboembolism (VTE) in Patients With Acute Primary Intracerebral Hemorrhage (ICH) Unknown status NCT00699465 Phase 4 enoxaparin;enoxaparin placebo
14 Clinical Re-evaluation of Removing Blood Stasis Therapy of Herbal Medicine in Treating Acute Cerebral Hemorrhage Safety Unknown status NCT01918722 Phase 4 ICH-1(herbal medicine with Hirudo, Tabanus);placebo;ICH-2(herbal medicine without Hirudo, Tabanus)
15 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
16 Effectiveness of Intravenous Tranexamic Acid in Reducing Blood Loss During and After Cesarean Section ,A Randomized Clinical Trial . Unknown status NCT02279186 Phase 4 Tranexamic Acid
17 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
18 Normothermia in Patients With Acute Cerebral Damage Unknown status NCT00491192 Phase 4 Diclofenac
19 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
20 A Randomized Clinical Trial Comparing Primary PCI and Post-thrombolysis PCI as Reperfusion Strategies in Patients With ST Segment Elevation Acute Myocardial Infarction Unknown status NCT02268669 Phase 4
21 Use of Misoprostol by Families and Women as a First Aid Measure to Address Excessive Postpartum Bleeding in Home Deliveries Unknown status NCT02853552 Phase 4 Misoprostol
22 A Randomized Controlled Trial Evaluating the Efficacy of Tachosil® for Prevention of Hemorrhage After Loop Electrosurgical Excisional Procedure (LEEP) in Patients With Cervical Intraepithelial Neoplasia or Cervical Cancer Unknown status NCT02629510 Phase 4 Tachosil
23 Vaginal Misoprostol Versus Bilateral Uterine Artery Ligation in Decreasing Blood Loss in Trans-abdominal Myomectomy , a Randomized Control Trail Unknown status NCT02643186 Phase 4 preoperative vaginal misoprostol
24 A Randomized Study to Evaluate the Predictive Impact of Using Cerazette Progestin Only Pill Before Nexplanon Insertion Regarding Bleeding Pattern Unknown status NCT01438736 Phase 4 Desogestrel 75 micrograms POP (Cerazette), Etonogestrel 68 mg implant (Nexplanon);Etonogestrel 68 mg subdermal implant
25 The Effect of Topical Application of Tranexamic Acid in Total Hip Arthroplasty Through the Direct Anterior Approach. A Prospective, Double Blind, Placebo-controlled Clinical Trial. Unknown status NCT01622946 Phase 4 Tranexamic Acid;placebo
26 Comparing Oxytocin and Oxytocin-ergometrine Combinations for Increasing Uterine Tone in Cesarean Delivery: a Pharmacokinetic-pharmacodynamic Study. Unknown status NCT01236482 Phase 4 Oxytocin versus oxytocin-ergometrine
27 The Risk of Bleeding After Removal of Large Colorectal Polyps in Patients Continuing or Discontinuing on Aspirin: a Multicenter, Double-blind, Placebo-controlled, Randomized Clinical Trial Unknown status NCT01549418 Phase 4 Aspirin (ASA);Placebo
28 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT02270723 Phase 4 5% Human Albumin " Behring";Lactated Ringer
29 Tranexamic Acid To Reduce Bleeding in Patients Treated With New Oral Anticoagulants Undergoing Dental Extraction Unknown status NCT03413891 Phase 4 Tranexamic Acid
30 Randomized Double Blind Trial Comparing Heparin and Placebo as Additives to Continuous Infusion in Intensive Care Neonates for Prevention of Ventilation Unknown status NCT00196469 Phase 4 heparin
31 Does Discontinuation of Aspirin Treatment Following Head Trauma Decrease the Incidence of Chronic Subdural Hematoma? Unknown status NCT01470040 Phase 4 discontinuation of aspirin therapy;continuation of aspirin therapy
32 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT01444508 Phase 4 Ringer-lactate "SAD";HES 130/04
33 RCT of Carvedilol vs Variceal Band Ligation in the Primary Prophylaxis of Oesophageal Variceal Haemorrhage Unknown status NCT01070641 Phase 4 Carvedilol
34 Prevention of Esophageal Variceal Rebleeding Unknown status NCT00863837 Phase 4 terlipressin (vasoconstrictor);pantoloc (proton pump inhibitor)
35 Effects of Ilaprazole 20mg on Ulcer Healing Rate and Prevention of Gastrointestinal Bleeding in the Patients Undergone Endoscopic Submucosal Dissection(ESD) for Gastric Adenoma or Early Gastric Cancer. Unknown status NCT02638584 Phase 4 Ilaprazole;Rabeprazole
36 Evaluation of Feasibility and Effectiveness of 4th Generation Bipolar Radiofrequency Endometrial Ablation Device: a Cohort Study Unknown status NCT02449304 Phase 4
37 A Prospective, Multicenter, Randomized, Open-label Trial to Evaluate Efficacy and Safety of 5mg Maintenance Dose of Prasugrel in Patients With Acute Coronary Syndrome Who Underwent Percutaneous Coronary Intervention With BiomatrixTM Stent Unknown status NCT02446730 Phase 4 Prasugel;Clopidogrel
38 A Controlled Trial on Uterine Fibroids Treatment Comparing Aromatase Inhibitor Plus GnRH Analogue Versus Ulipristal Acetate Unknown status NCT03421639 Phase 4 Ulipristal acetate;Aromatase inhibitor plus GnRH analog
39 The Effect of Heparinization Due to LBW in Cardiac Surgery Unknown status NCT03113708 Phase 4 Heparin Sodium
40 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
41 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
42 The Impact of an Adjusted Calculation Model Regarding Heparin and Protamine Dosing on Bleeding and Transfusions After Cardiac Surgery Compared With Standard Dosing: A Randomized Single Blind Trial Unknown status NCT02785575 Phase 4
43 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4 Norethindrone acetate pretreatment
44 Rectal Misoprostol in Women Undergoing Myomectomy for Intraoperative Blood Loss: A Randomized Placebo-controlled Study Unknown status NCT02908295 Phase 4 Rectal Misoprostol;Placebo
45 Prospective Non-randomized Trial Comparing Holmium Laser Enucleation of the Prostate Versus Greenlight Laser Photoselective Vaporization of the Prostate in Treating Benign Prostate Hyperplasia in Patients With Bleeding Tendency Unknown status NCT02293759 Phase 4
46 A Randomized Controlled Trial to Compare the Menstrual Bleeding Profile Among Copper and 13,5mg Levonorgestrel-releasing IUD Users. Unknown status NCT02957292 Phase 4 Levonorgestrel (13,5 mg) intrauterine device
47 The Comparison of Oral Rabeprazole vs. Intravenous Omeprazole in the Treatment of Patients With Mild to Moderate Nonvariceal Upper Gastrointestinal Bleeding Unknown status NCT00861640 Phase 4 Intravenous Omeprazole;Oral Rabeprazole
48 A Double Blind Study Comparing Low Dose and High Dose IV Esomeprazole After Successful Endoscopic Therapy in Patients With Peptic Ulcer Bleeding Unknown status NCT01275937 Phase 4 Esomeprazole;esomeprazole
49 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
50 The Effect of HVPG-Guided Individualized Therapy in Patients With Cirrhosis Related Esophagogastric Variceal Hemorrhage For Secondary Prophylaxis:A Randomized Controlled Trial Unknown status NCT02638415 Phase 4 Carvedilol

Search NIH Clinical Center for Bleeding Disorder, Platelet-Type, 11

Inferred drug relations via UMLS 71 / NDF-RT 50 :


6-Aminocaproic Acid
Aprotinin
Cellulose, Oxidized
desmopressin
Desmopressin Acetate
Fibrinogen
FIBRINOGEN,I-125
Mesna
Protamine Sulfate (USP)
Silver Nitrate
SILVER NITRATE CRYSTALS
Thrombin
von Willebrand factor
VON WILLEBRAND FACTOR,RECOMBINANT

Cochrane evidence based reviews: hemorrhage

Genetic Tests for Bleeding Disorder, Platelet-Type, 11

Genetic tests related to Bleeding Disorder, Platelet-Type, 11:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 11 29 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 11:

40
Brain, Liver, Placenta, Lung, Testes, Heart, Skin

Publications for Bleeding Disorder, Platelet-Type, 11

Articles related to Bleeding Disorder, Platelet-Type, 11:

# Title Authors PMID Year
1
A compound heterozygous mutation in glycoprotein VI in a patient with a bleeding disorder. 52 56 6
19552682 2009
2
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 56 6
19549989 2009
3
An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. 52
23815599 2013
4
Hemostatic disorders in a JAK2V617F-driven mouse model of myeloproliferative neoplasm. 61
24951423 2014
5
Presence of platelet-associated anti-glycoprotein (GP)VI autoantibodies and restoration of GPVI expression in patients with GPVI deficiency. 61
19522742 2009
6
Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. 61
17059472 2006
7
Mechanisms of platelet retention in the collagen-coated-bead column. 61
14625532 2003
8
The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. 61
12738669 2003
9
[Collagen adhesion-aggregation abnormality (2nd report)--congenital platelet membrane glycoprotein VI deficiency]. 61
2168494 1990

Variations for Bleeding Disorder, Platelet-Type, 11

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 11:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GP6 NM_001083899.2(GP6):c.584G>A (p.Ser195Asn)SNV Pathogenic 691634 19:55538972-55538972 19:55027604-55027604
2 GP6 GP6, ARG38CYSundetermined variant Pathogenic 30503
3 GP6 GP6, 5-BP DUP, 356AGCCCduplication Pathogenic 30504
4 GP6 GP6, 16-BP DELdeletion Pathogenic 30506

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 11:

73
# Symbol AA change Variation ID SNP ID
1 GP6 p.Arg58Cys VAR_066590 rs199588110
2 GP6 p.Ser175Asn VAR_066591 rs387906919

Expression for Bleeding Disorder, Platelet-Type, 11

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 11.

Pathways for Bleeding Disorder, Platelet-Type, 11

Pathways related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.99 SYK PLCG2 P2RY12 ITGA2 GP6 GP1BA
2
Show member pathways
12.14 SYK PLCG2 CAMKV
3
Show member pathways
12.11 SYK PLCG2 FCER1G
4
Show member pathways
12.08 SYK PLCG2 FCER1G
5
Show member pathways
11.94 SYK PLCG2 FCER1G CLEC1B
6
Show member pathways
11.9 SYK PLCG2 GP6 FCER1G CLEC1B
7
Show member pathways
11.86 ITGA2 GP6 GP1BA CD36
8 11.74 ITGA2 GP1BA CD36
9
Show member pathways
11.69 SYK PLCG2 FCER1G
10 11.63 ITGA2 GP1BA CD36
11 11.54 PLCG2 ITGA2 FCER1G
12 11.26 SYK PLCG2 P2RY12 ITGA2 GP6 GP1BA
13 11.06 PLCG2 P2RY12 ITGA2 GP6 CD36
14 10.57 ITGA2 GP6 GP1BA FCER1G

GO Terms for Bleeding Disorder, Platelet-Type, 11

Cellular components related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.65 SYK PLCG2 P2RY12 ITGA2 GP6 GP1BA
2 external side of plasma membrane GO:0009897 9.46 P2RY12 ITGA2 FCER1G CD36
3 cell surface GO:0009986 9.1 P2RY12 ITGA2 GP6 GP1BA FCER1G CD36

Biological processes related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 Fc-epsilon receptor signaling pathway GO:0038095 9.76 SYK PLCG2 FCER1G
2 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.72 SYK PLCG2 FCER1G
3 integrin-mediated signaling pathway GO:0007229 9.7 SYK ITGA2 FCER1G
4 cell surface receptor signaling pathway GO:0007166 9.65 SYK GP1BA FCER1G CLEC1B CD36
5 hemostasis GO:0007599 9.61 P2RY12 GP6 GP1BA
6 platelet aggregation GO:0070527 9.6 P2RY12 GP1BA
7 positive regulation of epithelial cell migration GO:0010634 9.59 PLCG2 ITGA2
8 positive regulation of receptor internalization GO:0002092 9.58 SYK PLCG2
9 positive regulation of interleukin-4 production GO:0032753 9.57 SYK FCER1G
10 positive regulation of cell adhesion mediated by integrin GO:0033630 9.56 SYK P2RY12
11 positive regulation of phagocytosis, engulfment GO:0060100 9.54 ITGA2 CD36
12 receptor internalization GO:0031623 9.54 SYK FCER1G CD36
13 positive regulation of mast cell degranulation GO:0043306 9.51 SYK FCER1G
14 enzyme linked receptor protein signaling pathway GO:0007167 9.49 SYK GP6
15 neutrophil activation involved in immune response GO:0002283 9.48 SYK FCER1G
16 regulation of platelet activation GO:0010543 9.46 SYK FCER1G
17 blood coagulation GO:0007596 9.43 P2RY12 ITGA2 GP6 GP1BA FCER1G CD36
18 interleukin-3-mediated signaling pathway GO:0038156 9.4 SYK FCER1G
19 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.33 SYK FCER1G CD36
20 serotonin secretion by platelet GO:0002554 9.32 SYK FCER1G
21 platelet activation GO:0030168 9.17 SYK PLCG2 P2RY12 GP6 GP1BA FCER1G

Molecular functions related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphotyrosine residue binding GO:0001784 8.96 SYK PLCG2
2 Toll-like receptor binding GO:0035325 8.62 SYK CD36

Sources for Bleeding Disorder, Platelet-Type, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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