BDPLT11
MCID: BLD124
MIFTS: 66

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 57 25 13 72
Glycoprotein Vi Deficiency 57 12 53 25 74
Gp Vi Deficiency 57 12 53 25 74
Bdplt11 57 12 53 25 74
Platelet-Type Bleeding Disorder 11 12 29 6 15
Bleeding Diathesis Due to a Collagen Receptor Defect 53 25 59
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 53 59
Hemorrhage 44 72
Bleeding Disorder, Platelet-Type 11 74
Bleeding Disorder, Platelet Type 11 40
Platelet-Type Bleeding Disorder-11 53

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

32
bleeding disorder, platelet-type, 11:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity infantile onset


Classifications:



External Ids:

Disease Ontology 12 DOID:0111057
ICD10 33 D69.8
ICD10 via Orphanet 34 D69.8
MedGen 42 C3280120
UMLS 72 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 von willebrand disease, type 2 and thrombocytopenia due to platelet alloimmunization, and has symptoms including muscle weakness, nausea and vomiting and constipation. 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 Development Angiotensin activation of ERK. The drugs Probucol and Nadolol have been mentioned in the context of this disorder. Affiliated tissues include brain, placenta and liver, 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 : 53 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 : 57 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 : 74 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 2925)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 32.1 ITGA2 GP6 CD36
2 thrombocytopenia due to platelet alloimmunization 31.8 ITGA2 FCGR2A
3 gray platelet syndrome 29.4 PLCG2 GP6 CD36
4 plasmodium falciparum malaria 29.2 FCGR2A CD55 CD36
5 qualitative platelet defect 29.1 WDTC1 CD36
6 hereditary hemorrhagic telangiectasia 12.7
7 hemorrhage, intracerebral 12.6
8 crimean-congo hemorrhagic fever 12.6
9 hemorrhagic fever with renal syndrome 12.6
10 omsk hemorrhagic fever 12.6
11 telangiectasia, hereditary hemorrhagic, type 1 12.6
12 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.6
13 argentine hemorrhagic fever 12.5
14 marburg hemorrhagic fever 12.5
15 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.5
16 acute hemorrhagic leukoencephalitis 12.5
17 hemorrhagic cystitis 12.5
18 viral hemorrhagic fever 12.5
19 telangiectasia, hereditary hemorrhagic, type 2 12.5
20 ebola hemorrhagic fever 12.5
21 bolivian hemorrhagic fever 12.5
22 telangiectasia, hereditary hemorrhagic, type 5 12.5
23 venezuelan hemorrhagic fever 12.5
24 dengue hemorrhagic fever 12.5
25 alkhurma hemorrhagic fever 12.4
26 korean hemorrhagic fever 12.4
27 lujo hemorrhagic fever 12.4
28 telangiectasia, hereditary hemorrhagic, type 4 12.4
29 brazilian hemorrhagic fever 12.4
30 chapare hemorrhagic fever 12.3
31 hemorrhagic disease 12.3
32 hemorrhagic shock and encephalopathy syndrome 12.3
33 acute hemorrhagic conjunctivitis 12.3
34 telangiectasia, hereditary hemorrhagic, type 3 12.3
35 whitewater arroyo hemorrhagic fever 12.3
36 balkan hemorrhagic fever 12.3
37 hemorrhagic proctocolitis 12.2
38 cerebral amyloid angiopathy, cst3-related 12.2
39 acute hemorrhagic encephalitis 12.2
40 pontine hemorrhage 12.2
41 cerebral amyloid angiopathy, app-related 12.2
42 diffuse alveolar hemorrhage 12.2
43 bilateral massive adrenal hemorrhage 12.2
44 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 12.2
45 dengue disease 12.1
46 rare hemorrhagic disorder 12.1
47 brain small vessel disease 1 with or without ocular anomalies 12.1
48 rare hemorrhagic disorder due to a platelet anomaly 12.1
49 rare hemorrhagic disorder due to an acquired platelet anomaly 12.1
50 rare hemorrhagic disorder due to a constitutional thrombocytopenia 12.1

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:

32
# Description HPO Frequency HPO Source Accession
1 epistaxis 32 HP:0000421
2 bruising susceptibility 32 HP:0000978
3 prolonged bleeding time 32 HP:0003010
4 menorrhagia 32 HP:0000132
5 ecchymosis 32 HP:0031364

Symptoms via clinical synopsis from OMIM:

57
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, nausea and vomiting, constipation, fever, polydipsia, fatigue, angina pectoris, abdominal pain, edema, pruritus, chest pain, hemoptysis, pain, headache, diarrhea, syncope, halitosis, chronic pain, sciatica, icterus, coughing, vertigo/dizziness, symptoms, dyspepsia, heartburn, gastrointestinal gas, pelvic pain, blood in stool, petechiae of skin, bloody nipple discharge, easy bleeding

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.07 CD36 CD55 CLEC1B CTTN F2R FCER1G
2 cardiovascular system MP:0005385 9.92 CD36 CLEC1B CTTN F2R FCER1G PDPN
3 homeostasis/metabolism MP:0005376 9.9 CD36 CLEC1B F2R FCER1G GP6 ITGA2
4 immune system MP:0005387 9.7 CD36 CLEC1B CTTN F2R FCER1G FCGR2A
5 mortality/aging MP:0010768 9.44 CD36 CLEC1B CTTN DDX41 F2R FCER1G

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 923)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved, Investigational Phase 4 23288-49-5 4912
2
Nadolol Approved Phase 4 42200-33-9 39147
3
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
4
Prucalopride Approved Phase 4 179474-81-8
5
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
6
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
7
Temazepam Approved, Investigational Phase 4 846-50-4 5391
8
Ranibizumab Approved Phase 4 347396-82-1 459903
9
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
10
Nicardipine Approved, Investigational Phase 4 55985-32-5 4474
11
Povidone Approved Phase 4 9003-39-8
12
Povidone-iodine Approved Phase 4 25655-41-8
13
Simvastatin Approved Phase 4 79902-63-9 54454
14
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
15
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
16
Warfarin Approved Phase 4 81-81-2 6691 54678486
17
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
18
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
19
Tirofiban Approved Phase 4 144494-65-5 60947
20
Prazosin Approved Phase 4 19216-56-9 4893
21
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
22
Calcium carbonate Approved, Investigational Phase 4 471-34-1
23
Bivalirudin Approved, Investigational Phase 4 128270-60-0 16129704
24
Sucralfate Approved Phase 4 54182-58-0
25
Dobutamine Approved Phase 4 34368-04-2 36811
26
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
27
Methylene blue Approved, Investigational Phase 4 61-73-4
28
Amlodipine Approved Phase 4 88150-42-9 2162
29
Gliclazide Approved Phase 4 21187-98-4 3475
30
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
31
Famotidine Approved Phase 4 76824-35-6 3325
32
Tamoxifen Approved Phase 4 10540-29-1 2733526
33
Entecavir Approved, Investigational Phase 4 142217-69-4 153941
34
Ferrous fumarate Approved Phase 4 141-01-5
35
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
36
Hydroxocobalamin Approved Phase 4 13422-51-0 11953898 15589840
37
Nicotinamide Approved, Investigational Phase 4 98-92-0 936
38
Clobetasol Approved, Experimental, Investigational Phase 4 25122-46-7, 25122-41-2 32798 5311051
39
Zoledronic Acid Approved Phase 4 118072-93-8 68740
40
Nepafenac Approved, Investigational Phase 4 78281-72-8 151075
41
Norfloxacin Approved Phase 4 70458-96-7 4539
42
Insulin glargine Approved Phase 4 160337-95-1
43
Ritodrine Approved, Investigational Phase 4 26652-09-5 33572
44
Hyaluronic acid Approved, Vet_approved Phase 4 9004-61-9 53477741
45
Lamivudine Approved, Investigational Phase 4 134678-17-4 60825
46
Peginterferon alfa-2b Approved Phase 4 99210-65-8, 215647-85-1
47 Propoxycaine Approved Phase 4 86-43-1
48
Linaclotide Approved Phase 4 851199-59-2 65351
49
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
50
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068

Interventional clinical trials:

(show top 50) (show all 3543)
# Name Status NCT ID Phase Drugs
1 Different Conbercept Injection Methods in Treatment of Vitreous Hemorrhage Unknown status NCT02816710 Phase 4 Conbercept
2 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
3 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
4 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)
5 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)
6 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
7 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
8 ED90 Determination of Carbetocin for the Prevention of Postpartum Uterine Atony in Women Undergoing an Elective Cesarean Delivery Unknown status NCT01579201 Phase 4 Carbetocin
9 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
10 Phase IV Study Comparing Helicobacter Pylori Empiric Eradication With Test-Guided Treatment in Patients With Peptic Ulcer Bleeding Unknown status NCT00687336 Phase 4
11 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
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 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
14 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
15 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)
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 Endoscopic Treatment Alone Versus Combined Propranolol and Endoscopic Treatment of Acute Variceal Hemorrhage in Patients With Hepatocellular Carcinoma Unknown status NCT01451658 Phase 4 propranolol
18 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
19 Normothermia in Patients With Acute Cerebral Damage Unknown status NCT00491192 Phase 4 Diclofenac
20 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
21 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
22 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
23 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
24 A Prospective Randomized Control Trial to Compare the Aquamantys System With Standard Electrocautery in Reducing Blood Loss in Primary Total Knee Arthroplasty Unknown status NCT01736644 Phase 4
25 A Multicenter Study Comparing Efficacy and Safety of " Treat-and-Extend" Regimen Versus PRN Regimen of Conbercept in Neovascular Age-related Macular Degeneration Unknown status NCT02802657 Phase 4 Conbercept
26 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
27 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
28 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
29 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
30 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT02270723 Phase 4 5% Human Albumin " Behring";Lactated Ringer
31 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
32 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
33 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT01444508 Phase 4 Ringer-lactate "SAD";HES 130/04
34 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
35 RCT of Carvedilol vs Variceal Band Ligation in the Primary Prophylaxis of Oesophageal Variceal Haemorrhage Unknown status NCT01070641 Phase 4 Carvedilol
36 Endoscopic Treatment Versus Propranolol for Primary Prevention of Patients With Hepatocellular Carcinoma and Concomitant Esophageal Varices Unknown status NCT01970748 Phase 4 Propranolol
37 Prevention of Esophageal Variceal Rebleeding Unknown status NCT00863837 Phase 4 terlipressin (vasoconstrictor);pantoloc (proton pump inhibitor)
38 A Randomized Trial of GVS Alone vs. Nadolol Unknown status NCT01298271 Phase 4 propranolol
39 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4 Norethindrone acetate pretreatment
40 Rectal Misoprostol in Women Undergoing Myomectomy for Intraoperative Blood Loss: A Randomized Placebo-controlled Study Unknown status NCT02908295 Phase 4 Rectal Misoprostol;Placebo
41 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
42 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
43 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
44 Early Bubble CPAP (EBCPAP) in Very Low Birth Weight Infants (VLBWI) Unknown status NCT00368680 Phase 4
45 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
46 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
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 Open-label Clinical Pharmacokinetic Study of Cardionat®, Capsules 250 mg (JSC Nizhpharm, Russia) Using in Health Athlete Volunteers Unknown status NCT02758912 Phase 4 оral intake of study drug capsules; study drug - Cardionat ® (trimethylhydrazinium propionate dihydrate), oral capsules 250 mg
49 Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients. Unknown status NCT01970280 Phase 4 Enoxaparin
50 Banding Ligation With Carvedilol vs. Carvedilol for the Prevention of First Bleeding in Cirrhotics With Moderate Varices Unknown status NCT01383044 Phase 4 carvedilol

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

Inferred drug relations via UMLS 72 / NDF-RT 51 :


6-Aminocaproic Acid
Aminocaproic acid
Aprotinin
Cellulose, Oxidized
desmopressin
Desmopressin Acetate
Ergometrine
Factor IX Complex (Human)
Ferric subsulfate
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:

41
Brain, Placenta, Liver, 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. 6 8 71
19552682 2009
2
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 8 71
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. 6
23815599 2013
4
Hemostatic disorders in a JAK2V617F-driven mouse model of myeloproliferative neoplasm. 38
24951423 2014
5
Presence of platelet-associated anti-glycoprotein (GP)VI autoantibodies and restoration of GPVI expression in patients with GPVI deficiency. 38
19522742 2009
6
Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. 38
17059472 2006
7
Mechanisms of platelet retention in the collagen-coated-bead column. 38
14625532 2003
8
The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. 38
12738669 2003
9
[Collagen adhesion-aggregation abnormality (2nd report)--congenital platelet membrane glycoprotein VI deficiency]. 38
2168494 1990

Variations for Bleeding Disorder, Platelet-Type, 11

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GP6 GP6, ARG38CYS undetermined variant Pathogenic
2 GP6 GP6, 5-BP DUP, 356AGCCC duplication Pathogenic
3 GP6 NM_016363.5(GP6): c.524G> A (p.Ser175Asn) single nucleotide variant Pathogenic rs387906919 19:55539032-55539032 19:55027664-55027664
4 GP6 GP6, 16-BP DEL deletion Pathogenic

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

74
# 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 25)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 VAV1 SYK PLCG2 PDPN ITGA2 GP6
2
Show member pathways
12.76 VAV1 SYK PLCG2 ITGA2 F2R
3
Show member pathways
12.47 VAV1 SYK PLCG2 FCER1G
4
Show member pathways
12.42 VAV1 SYK PLCG2 FCER1G
5
Show member pathways
12.33 VAV1 SYK PLCG2 FCER1G
6
Show member pathways
12.21 VAV1 SYK PLCG2 FCGR2A
7
Show member pathways
12.2 SYK PLCG2 FCER1G F2R
8
Show member pathways
12.1 VAV1 SYK PLCG2 FCGR2A
9
Show member pathways
12.04 VAV1 SYK PLCG2 ITGA2 F2R
10
Show member pathways
12 SYK PLCG2 FCER1G CLEC1B
11
Show member pathways
11.99 ITGA2 GP6 CD36
12 11.98 ITGA2 FCGR2A CD36
13 11.88 SYK PLCG2 FCGR2A
14
Show member pathways
11.85 VAV1 SYK PLCG2 FCGR2A
15 11.82 ITGA2 FCGR2A CD36
16
Show member pathways
11.77 VAV1 SYK PLCG2
17 11.71 ITGA2 CD55 CD36
18
Show member pathways
11.68 VAV1 SYK PLCG2 PDPN GP6 FCER1G
19 11.67 VAV1 SYK PLCG2 FCGR2A
20 11.6 PLCG2 ITGA2 FCGR2A FCER1G
21
Show member pathways
11.41 SYK PLCG2 FCGR2A
22 11.26 PLCG2 ITGA2 GP6 F2R CD36
23 11.26 SYK PLCG2 ITGA2 GP6 FCGR2A FCER1G
24 10.85 VAV1 SYK
25 10.61 ITGA2 GP6 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 integral component of plasma membrane GO:0005887 9.8 PDPN GP6 FCER1G F2R CLEC1B CD36
2 plasma membrane GO:0005886 9.47 VAV1 SYK PPL PLCG2 PDPN ITGA2
3 cell surface GO:0009986 9.43 ITGA2 GP6 FCER1G F2R CD55 CD36
4 tetraspanin-enriched microdomain GO:0097197 9.16 PDPN GP6
5 membrane GO:0016020 10.07 SYK PPL PDPN ITGA2 GP6 FCGR2A

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 cell surface receptor signaling pathway GO:0007166 9.88 SYK FCER1G CLEC1B CD36
2 positive regulation of cytosolic calcium ion concentration GO:0007204 9.8 F2R CD55 CD36
3 neutrophil chemotaxis GO:0030593 9.75 VAV1 SYK FCER1G
4 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.73 VAV1 SYK PLCG2 FCGR2A
5 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.71 SYK PLCG2 FCER1G
6 Fc-epsilon receptor signaling pathway GO:0038095 9.67 VAV1 SYK PLCG2 FCER1G
7 receptor internalization GO:0031623 9.65 SYK FCER1G CD36
8 positive regulation of collagen biosynthetic process GO:0032967 9.62 ITGA2 F2R
9 focal adhesion assembly GO:0048041 9.62 ITGA2 CTTN
10 integrin-mediated signaling pathway GO:0007229 9.62 VAV1 SYK ITGA2 FCER1G
11 regulation of cell size GO:0008361 9.61 WDTC1 VAV1
12 positive regulation of receptor internalization GO:0002092 9.61 SYK PLCG2
13 positive regulation of interleukin-4 production GO:0032753 9.6 SYK FCER1G
14 positive regulation of blood coagulation GO:0030194 9.59 F2R CD36
15 positive regulation of type I interferon production GO:0032481 9.58 SYK PLCG2 DDX41
16 positive regulation of phagocytosis, engulfment GO:0060100 9.57 ITGA2 CD36
17 positive regulation of mast cell degranulation GO:0043306 9.56 SYK FCER1G
18 enzyme linked receptor protein signaling pathway GO:0007167 9.55 SYK GP6
19 neutrophil activation involved in immune response GO:0002283 9.52 SYK FCER1G
20 interleukin-3-mediated signaling pathway GO:0038156 9.51 SYK FCER1G
21 regulation of platelet activation GO:0010543 9.49 SYK FCER1G
22 serotonin secretion by platelet GO:0002554 9.46 SYK FCER1G
23 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.43 SYK FCER1G CD36
24 blood coagulation GO:0007596 9.35 ITGA2 GP6 FCER1G F2R CD36
25 positive regulation of smooth muscle contraction GO:0045987 9.33 ITGA2 F2R CTTN
26 platelet activation GO:0030168 9.23 VAV1 SYK PLCG2 PDPN GP6 FCER1G

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.53 WDTC1 VAV1 SYK PPL PLCG2 PDPN
2 IgG binding GO:0019864 9.26 FCGR2A FCER1G
3 Toll-like receptor binding GO:0035325 9.16 SYK CD36
4 phosphotyrosine residue binding GO:0001784 9.13 VAV1 SYK PLCG2

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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