BDPLT11
MCID: BLD124
MIFTS: 61

Bleeding Disorder, Platelet-Type, 11 (BDPLT11)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases
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Aliases & Classifications for Bleeding Disorder, Platelet-Type, 11

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

Name: Bleeding Disorder, Platelet-Type, 11 57 42 73 71
Glycoprotein Vi Deficiency 57 11 19 42 73
Gp Vi Deficiency 57 11 19 42 73
Bdplt11 57 11 19 42 73
Platelet-Type Bleeding Disorder 11 11 28 5 14
Bleeding Diathesis Due to a Collagen Receptor Defect 19 42 58
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 19 58
Bleeding Disorder, Platelet Type 11 38
Platelet-Type Bleeding Disorder-11 19
Hemorrhage 71

Characteristics:


Inheritance:

Bleeding Disorder, Platelet-Type, 11: Autosomal recessive 57
Bleeding Diathesis Due to a Collagen Receptor Defect: Autosomal dominant,Autosomal recessive 58
Bleeding Diathesis Due to Glycoprotein Vi Deficiency: Autosomal recessive 58

Prevelance:

Bleeding Diathesis Due to a Collagen Receptor Defect: <1/1000000 (Worldwide) 58

Age Of Onset:

Bleeding Diathesis Due to a Collagen Receptor Defect: All ages 58

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in infancy
variable severity


HPO:

30
bleeding disorder, platelet-type, 11:
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0111057
OMIM® 57 614201
OMIM Phenotypic Series 57 PS231200
ICD10 31 D69.8
ICD10 via Orphanet 32 D69.8
MedGen 40 C3280120
UMLS 71 C0019080 C3280120

Summaries for Bleeding Disorder, Platelet-Type, 11

MedlinePlus Genetics: 42 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 thrombocytopenic purpura, autoimmune and purpura, and has symptoms including nausea and vomiting, constipation and muscle weakness. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet), and among its related pathways/superpathways are Signal Transduction and Response to elevated platelet cytosolic Ca2+. The drugs Probucol and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include brain, placenta and whole blood, and related phenotypes are epistaxis and bruising susceptibility

GARD: 19 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 in the GP6 gene and is inherited in an autosomal recessive manner. Some cases appear to be acquired (not caused by inherited genetic changes) and are often associated with autoimmune conditions.

Orphanet: 58 Bleeding diathesis due to a collagen receptor defect is a rare, genetic coagulation disorder characterized by a mild to moderate bleeding tendency due to impaired platelet activation and aggregation in response to collagen, or impaired platelet-vessel wall interaction, resulting from a collagen receptor defect. Patients manifest with ecchymoses, epistaxis, menorrhagia, and/or post-traumatic and post-surgery bleeding complications. Laboratory analysis reveals prolonged bleeding time and, occasionally, mild thrombocytopenia.

Disease Ontology: 11 A blood platelet 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.

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) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 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 Bleeding Disorder, Platelet-Type, 24

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

(show top 50) (show all 60)
# Related Disease Score Top Affiliating Genes
1 thrombocytopenic purpura, autoimmune 29.9 SELP ITGA2B GP6 GP1BA
2 purpura 29.6 VWF SELP ITGA2B GP1BA
3 thrombocytopenia due to platelet alloimmunization 29.1 VWF SYK SELP ITGA2B ITGA2 GP1BA
4 thrombosis 28.9 VWF SELP P2RY12 ITGA2B ITGA2 GP6
5 autosomal dominant macrothrombocytopenia 10.2 ITGA2B GP1BA
6 childhood acute megakaryoblastic leukemia 10.1 ITGA2B GP1BA
7 aspirin allergy 10.1 P2RY12 ITGA2B
8 acquired thrombocytopenia 10.1 ITGA2B GP1BA
9 carotid artery occlusion 10.1 SELP GP6
10 fetal and neonatal alloimmune thrombocytopenia 10.1 ITGA2B ITGA2 GP1BA
11 occlusion precerebral artery 10.0 SELP ITGA2B GP6
12 platelet aggregation, spontaneous 10.0 VWF SELP
13 von willebrand disease, type 2 10.0 VWF GP1BA
14 phenytoin allergy 10.0 TBXA2R SYK
15 von willebrand disease, type 1 10.0 VWF GP1BA
16 post-thrombotic syndrome 10.0 VWF SELP
17 active peptic ulcer disease 10.0 VWF P2RY12
18 acquired von willebrand syndrome 10.0 VWF GP6 GP1BA
19 von willebrand disease, type 3 10.0 VWF GP6 GP1BA
20 pseudo-von willebrand disease 9.9 VWF GP6 GP1BA
21 myeloproliferative syndrome, transient 9.9 ITGA2B GP1BA
22 primary agammaglobulinemia 9.9
23 scott syndrome 9.9 ITGA2B GP6 ANO6
24 thrombasthenia 9.9 SELP ITGA2B ITGA2 GP1BA
25 pulmonary embolism 9.9 VWF GP6 GP1BA
26 chronic venous insufficiency 9.9 VWF SELP
27 infective endocarditis 9.9 VWF ITGA2B GP1BA
28 primary thrombocytopenia 9.9 VWF ITGA2B GP1BA
29 thrombotic thrombocytopenic purpura 9.9 VWF SELP GP1BA
30 arteriosclerosis 9.9 SELP ITGA2B ITGA2 GP1BA
31 mitral valve stenosis 9.9 VWF SELP P2RY12
32 antiphospholipid syndrome 9.9 VWF SELP GP1BA
33 intracranial embolism 9.8 VWF SELP ITGA2B
34 peripheral artery disease 9.8 VWF SELP P2RY12
35 splenic sequestration 9.8 VWF SELP ITGA2B
36 thrombophlebitis 9.8 VWF SELP
37 patent foramen ovale 9.8 VWF SELP P2RY12
38 amegakaryocytic thrombocytopenia, congenital 9.8 SNORD1C ITGA2B GP1BA
39 qualitative platelet defect 9.7 VWF SELP ITGA2B GP1BA
40 polycythemia vera 9.7 VWF SELP GP1BA
41 essential thrombocythemia 9.7 VWF SELP ITGA2B GP1BA
42 intermediate coronary syndrome 9.7 VWF SELP P2RY12 ITGA2B
43 vascular disease 9.6 VWF SELP ITGA2 GP6 GP1BA
44 coronary thrombosis 9.6 VWF P2RY12 ITGA2B GP6 GP1BA
45 hemorrhagic disease 9.6 VWF P2RY12 ITGA2B GP6 GP1BA
46 von willebrand's disease 9.6 VWF SELP ITGA2B GP6 GP1BA
47 blood coagulation disease 9.6 VWF SELP ITGA2B GP6 GP1BA
48 gray platelet syndrome 9.6 VWF SELP PLCG2 ITGA2B GP6
49 intracranial thrombosis 9.6 VWF SELP P2RY12 ITGA2B GP6
50 carotid artery disease 9.6 VWF SELP P2RY12 ITGA2B GP6

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


Active Peptic Ulcer Disease Acute Cystitis
Acute Kidney Failure Chronic Kidney Disease
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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 epistaxis 30 HP:0000421
2 bruising susceptibility 30 HP:0000978
3 prolonged bleeding time 30 HP:0003010
4 ecchymosis 30 HP:0031364
5 menorrhagia 30 HP:0000132

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

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


nausea and vomiting; constipation; muscle weakness; polydipsia; fatigue; fever; hemoptysis; angina pectoris; abdominal pain; chest pain; headache; pruritus; syncope; diarrhea; edema; pain; chronic pain; sciatica; halitosis; dyspepsia; icterus; coughing; vertigo/dizziness; heartburn; gastrointestinal gas; symptoms; 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:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 FCER1G GP1BA ITGA2 ITGA2B P2RY12 SYK

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.13 ANO6 CLEC1B FCER1G GP1BA GP6 ITGA2
2 cellular MP:0005384 9.91 ANO6 FCER1G GP1BA ITGA2 ITGA2B PLCG2
3 cardiovascular system MP:0005385 9.81 ANO6 CLEC1B FCER1G ITGA2B PLCG2 SELP
4 immune system MP:0005387 9.65 ANO6 CLEC1B FCER1G GP6 ITGA2B PLCG2
5 hematopoietic system MP:0005397 9.44 ANO6 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 681)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved, Investigational Phase 4 23288-49-5 4912
2
Levonorgestrel Approved, Investigational Phase 4 797-63-7 13109
3
Desogestrel Approved Phase 4 54024-22-5 40973
4
Diclofenac Approved, Vet_approved Phase 4 15307-86-5, 15307-79-6 3033
5
Triazolam Approved, Investigational Phase 4 28911-01-5 5556
6
Glycerin Approved, Investigational Phase 4 56-81-5 753
7
Prucalopride Approved Phase 4 179474-81-8 3052762
8
Cathine Approved, Experimental, Illicit, Vet_approved, Withdrawn Phase 4 14838-15-4, 492-39-7 131954576 4786 26934
9
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
10
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
11
Menthol Approved, Experimental Phase 4 1490-04-6, 2216-51-5, 15356-60-2 1254 16666 165675
12
Borage oil Approved, Investigational Phase 4
13
Zinc sulfate Approved, Investigational Phase 4 7733-02-0
14
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
15
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
16
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
17
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
18
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
19
Hydromorphone Approved, Illicit Phase 4 466-99-9, 71-68-1 5284570
20
Morphine Approved, Investigational Phase 4 57-27-2 5288826
21
Sorbitol Approved, Investigational Phase 4 69-65-8, 50-70-4 453 6251 5780
22
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
23
Chlorhexidine Approved, Vet_approved, Withdrawn Phase 4 55-56-1 2713 9552079
24
Rifaximin Approved, Investigational Phase 4 80621-81-4 46783403 6436173
25
Nadolol Approved Phase 4 42200-33-9 39147
26
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
27
Fosphenytoin Approved, Investigational Phase 4 93390-81-9 56339
28
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
29
Magnesium sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9
30
Lactulose Approved Phase 4 4618-18-2 11333
31
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
32
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
33
Clarithromycin Approved Phase 4 81103-11-9 84029
34
Ranibizumab Approved Phase 4 347396-82-1
35
Isosorbide dinitrate Approved, Investigational Phase 4 87-33-2 3780 6883
36
Isosorbide Approved, Investigational Phase 4 652-67-5 99937 12597
37
Prazosin Approved Phase 4 19216-56-9 4893
38
Histamine Approved, Investigational Phase 4 51-45-6 774
39
Famotidine Approved Phase 4 76824-35-6 3325 5702160
40
Metronidazole Approved Phase 4 443-48-1, 69198-10-3 4173
41
Nadroparin Approved, Investigational Phase 4
42
Mefenamic acid Approved Phase 4 61-68-7 4044
43
Bemiparin Approved, Investigational Phase 4 91449-79-5
44
Copper Approved, Investigational Phase 4 7440-50-8 27099
45
Midodrine Approved Phase 4 133163-28-7, 42794-76-3 4195
46
Methylene blue Approved, Investigational Phase 4 61-73-4 6099
47
Linaclotide Approved Phase 4 851199-59-2 16158208
48
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 54677470 5281106
49
Warfarin Approved Phase 4 81-81-2, 129-06-6 54678486
50
Acenocoumarol Approved, Investigational Phase 4 152-72-7 54676537 9052

Interventional clinical trials:

(show top 50) (show all 2829)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 Clinical Evaluation of Removing Blood Stasis Therapy in Treating Acute Cerebral Hemorrhage Safety and Efficacy Unknown status NCT03354026 Phase 4 AICH-PXZY;AICH-without PXZY;AICH-placebo
4 A Randomized, Controlled, Single-center Clinical Study of Huperzine A in the Treatment of Brain Injury in Patients With Hypertensive Cerebral Hemorrhage Unknown status NCT04509323 Phase 4 Huperzine A for Injection
5 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)
6 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)
7 Normothermia in Patients With Acute Cerebral Damage Unknown status NCT00491192 Phase 4 Diclofenac
8 Phase IV Study Comparing Helicobacter Pylori Empiric Eradication With Test-Guided Treatment in Patients With Peptic Ulcer Bleeding Unknown status NCT00687336 Phase 4
9 Comparative Analysis of Oral Sedation Versus Standard Intravenous Sedation in Vitreoretinal Surgery With Topical Anesthesia and Sub-tenon's Block Unknown status NCT04346095 Phase 4 Oral Sedatives with or Without Analgesia;Intravenous Sedatives with or Without Analgesia
10 Prevention of Postpartum Hemorrhage With Tranexamic Acid (TXA) Unknown status NCT03326596 Phase 4 Tranexamic Acid 1000 mg/10ml normal saline infusion
11 The Effect of Preoperative and Post Operative Misoprostol Administration on Intraoperative Blood Loss and Postpartum Hemorrhage in CS Unknown status NCT03680339 Phase 4 Misoprostol;Oxytocin
12 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
13 Efficacy and Safety of Early Administration of Tranexamic Acid in Cirrhotic Patients Presenting With Acute Upper Gastrointestinal Bleeding: a Multicenter, Randomized, Double Blind, Placebo-controlled Trial (Modified by amendment1) Unknown status NCT03023189 Phase 4 Tranexamic acid;Placebo
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 Carbetocin Versus Ergometrin in the Prevention of Postpartum Hemorrhage in Parturients Undergoing Caesarian Section Under Regional Anaesthesia. A Single Blind Randomized Control Trial Unknown status NCT04300452 Phase 4 Carbetocin;Ergometrine Maleate
16 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
17 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
18 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
19 The Effect of Prucalopride on Small Bowel Transit Time in Patients Undergoing Capsule Endoscopy: A Randomized Controlled Trial Unknown status NCT02806206 Phase 4 Prucalopride;Placebo
20 Intramyometrial and Intravenous Oxytocin Compared to Intravenous Carbetocin for Prevention of Postpartum Hemorrhage in Elective Cesarean Sections - a Monocentric Randomized Controlled Study Unknown status NCT03651882 Phase 4 Oxytocin;Carbetocin
21 Treatment of Prolonged Uterine Bleeding of Etonogestrel (ENG)-Releasing Implant Using Norethisterone (NET)-Only Pill: a Randomized Controlled Trial Unknown status NCT04047875 Phase 4 Norethisterone 10mg/day;Placebo
22 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
23 Prospective, Randomized Trial of Hemospray Plus Epinephrine Injection Versus Endoscopic Hemoclip Plus Epinephrine Injection in Nonvariceal Upper Gastrointestinal Bleeding Unknown status NCT02537353 Phase 4 Hemospray;Adrenaline
24 Clinical Study of Qingpeng Ointment in Treating Shoulder Syndrome During Rehabilitation Period of Cerebral Hemorrhage Unknown status NCT04039737 Phase 4 Qingpeng Ointment
25 Post-tonsillectomy Pain Control in Adults: a Randomized Prospective Study Unknown status NCT02358850 Phase 4 Norco (Hydrocodone and Acetaminophen);Percocet (Oxycodone and Acetaminophen);Dilaudid (hydromorphone);Tylenol (Acetaminophen)
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 ED90 Determination of Carbetocin for the Prevention of Postpartum Uterine Atony in Women Undergoing an Elective Cesarean Delivery Unknown status NCT01579201 Phase 4 Carbetocin
28 Randomized Clinical Trial to Verify the Effectiveness of Topical Aminocaproic Acid in the Prevention of Post-exodontic Bleeding in Patients on Anticoagulants Unknown status NCT02238288 Phase 4 Aminocaproic acid;lidocaine and epinephrine;Paracetamol
29 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
30 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
31 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
32 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
33 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
34 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
35 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
36 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
37 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
38 To Investigate Post-procedure Hemorrhage and Cardiovascular Events in Taiwanese Patients Who Continue or Discontinue Low-Dose Aspirin Before Transrectal Prostate Biopsy: a Prospective Randomized Trial Unknown status NCT02744937 Phase 4 Aspirin
39 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
40 Randomized Controlled Trial Comparing Propranolol, Endoscopic Banding Ligation, and Combined Treatment to Prevent First Variceal Hemorrhage in Patients With Liver Cirrhosis Unknown status NCT00965900 Phase 4 Propranolol
41 A Prospective, Randomized Controlled Trial of 2- Day vs. 5- Day Terlipressin and Ceftriaxone in the Prevention of Very Early Rebleeding in Patients With Acute Gastroesophageal Variceal Hemorrhage Unknown status NCT04056806 Phase 4 Terlipressin 1Mg Powder for Conventional Release Solution for Injection Vial
42 Endoscopic Treatment Alone Versus Combined Propranolol and Endoscopic Treatment of Acute Variceal Hemorrhage in Patients With HCC:a Randomized Trial Unknown status NCT01298284 Phase 4 propranolol
43 A Pilot Study to Determine if Intravitreal Injections of Pegaptanib Sodium (Macugen) Given Every 12 Weeks for a Year After an Induction Phase of Three Injections Every 6 Weeks Will Reduce the Progression of Proliferative Diabetic Retinopathy in Patients Without Significant Vitreous Hemorrhage in Comparison to Treatment With Retinal Photocoagulation Alone and After an Induction Phase Unknown status NCT01486771 Phase 4 Macugen ® (pegaptanib sodium)
44 Endoscopic Treatment Alone Versus Combined Propranolol and Endoscopic Treatment of Acute Variceal Hemorrhage in Patients With Hepatocellular Carcinoma Unknown status NCT01451658 Phase 4 propranolol
45 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT02270723 Phase 4 5% Human Albumin " Behring";Lactated Ringer
46 The Effect of Carvedilol Vs Propranolol in Patients With Cirrhosis Related Esophagogastric Varices After Multiple Endoscopic Treatments For Secondary Prophylaxis:A Randomized Controlled Trial Unknown status NCT02385422 Phase 4 Carvedilol;Propranolol
47 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
48 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
49 Evaluation of the Potential Action of Coagulation Factors Concentrates in the Reversal of the Antithrombotic Action of New Oral Anticoagulants: Studies ex Vivo in Blood Samples From Healthy Volunteers Unknown status NCT01478282 Phase 4 Rivaroxaban;Dabigatran
50 Extended Antiplatelet Therapy With Clopidogrel Alone Versus Clopidogrel Plus Aspirin After Completion of 9- to 12-month Dual Antiplatelet Therapy for ACS Patients With Both High Bleeding and Ischemic Risk. Unknown status NCT03431142 Phase 4 Clopidogrel;Clopidogrel+aspirin

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

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 28 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

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

MalaCards : Brain, Placenta, Whole Blood, Skin, Liver, Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

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. 57 5
19552682 2009
2
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 57 5
19549989 2009
3
Hemostatic disorders in a JAK2V617F-driven mouse model of myeloproliferative neoplasm. 62
24951423 2014
4
Genetic and antibody-induced glycoprotein VI deficiency equally protects mice from mechanically and FeCl(3) -induced thrombosis. 62
21535392 2011
5
Presence of platelet-associated anti-glycoprotein (GP)VI autoantibodies and restoration of GPVI expression in patients with GPVI deficiency. 62
19522742 2009
6
Characterization of a patient with glycoprotein (GP) VI deficiency possessing neither anti-GPVI autoantibody nor genetic aberration. 62
17059472 2006
7
Mechanisms of platelet retention in the collagen-coated-bead column. 62
14625532 2003
8
The contribution of glycoprotein VI to stable platelet adhesion and thrombus formation illustrated by targeted gene deletion. 62
12738669 2003
9
[Collagen adhesion-aggregation abnormality (2nd report)--congenital platelet membrane glycoprotein VI deficiency]. 62
2168494 1990

Variations for Bleeding Disorder, Platelet-Type, 11

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

5 (show all 18)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP6 NM_001083899.2(GP6):c.584G>A (p.Ser195Asn) SNV Pathogenic
691634 rs200525940 GRCh37: 19:55538972-55538972
GRCh38: 19:55027604-55027604
2 GP6 NM_001083899.2(GP6):c.356_360dup (p.Gly121fs) MICROSAT Pathogenic
30504 GRCh37: 19:55539195-55539196
GRCh38: 19:55027827-55027828
3 GP6 NM_001083899.2(GP6):c.142_157del (p.Cys48fs) DEL Pathogenic
30506 GRCh37: 19:55543675-55543690
GRCh38: 19:55032307-55032322
4 GP6 NM_001083899.2(GP6):c.708_711del (p.Asn236fs) DEL Pathogenic
1691235 GRCh37: 19:55530033-55530036
GRCh38: 19:55018665-55018668
5 GP6 NM_001083899.2(GP6):c.172C>T (p.Arg58Cys) SNV Pathogenic
916452 rs199588110 GRCh37: 19:55543660-55543660
GRCh38: 19:55032292-55032292
6 GP6 NM_001083899.2(GP6):c.22del (p.Leu8fs) DEL Likely Pathogenic
1324500 GRCh37: 19:55549583-55549583
GRCh38: 19:55038215-55038215
7 GP6 NM_001083899.2(GP6):c.655C>T (p.Pro219Ser) SNV Benign
257422 rs1613662 GRCh37: 19:55536595-55536595
GRCh38: 19:55025227-55025227
8 GP6 NM_001083899.2(GP6):c.745G>A (p.Ala249Thr) SNV Benign
257424 rs2304167 GRCh37: 19:55527081-55527081
GRCh38: 19:55015713-55015713
9 GP6 NM_001083899.2(GP6):c.484A>C (p.Arg162=) SNV Benign
257418 rs892090 GRCh37: 19:55539072-55539072
GRCh38: 19:55027704-55027704
10 GP6 NM_001083899.2(GP6):c.495T>C (p.Phe165=) SNV Benign
257419 rs892089 GRCh37: 19:55539061-55539061
GRCh38: 19:55027693-55027693
11 GP6 NM_001083899.2(GP6):c.709G>A (p.Glu237Lys) SNV Benign
257423 rs1654416 GRCh37: 19:55530035-55530035
GRCh38: 19:55018667-55018667
12 GP6 NM_001083899.2(GP6):c.940C>G (p.Pro314Ala) SNV Benign
257426 rs2304166 GRCh37: 19:55526373-55526373
GRCh38: 19:55015005-55015005
13 GP6 NM_001083899.2(GP6):c.968A>C (p.Lys323Thr) SNV Benign
257428 rs1671152 GRCh37: 19:55526345-55526345
GRCh38: 19:55014977-55014977
14 GP6 NM_001083899.2(GP6):c.1419C>T (p.Pro473=) SNV Benign
257411 rs1671151 GRCh37: 19:55525894-55525894
GRCh38: 19:55014526-55014526
15 GP6 NM_001083899.2(GP6):c.1816T>C (p.Phe606Leu) SNV Benign
257416 rs1671150 GRCh37: 19:55525497-55525497
GRCh38: 19:55014129-55014129
16 GP6 NM_001083899.2(GP6):c.576A>G (p.Ser192=) SNV Benign
257421 rs1654425 GRCh37: 19:55538980-55538980
GRCh38: 19:55027612-55027612
17 GP6 NM_001083899.2(GP6):c.1717A>G (p.Arg573Gly) SNV Benign
257413 rs1654412 GRCh37: 19:55525596-55525596
GRCh38: 19:55014228-55014228
18 GP6 NM_001083899.2(GP6):c.954T>A (p.Ala318=) SNV Benign
257427 rs1654413 GRCh37: 19:55526359-55526359
GRCh38: 19:55014991-55014991

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 20)
# Super pathways Score Top Affiliating Genes
1 13.51 VWF TBXA2R SYK PLCG2 P2RY12 ITGA2B
2
Show member pathways
12.8 VWF TBXA2R SYK SELP PLCG2 P2RY12
3
Show member pathways
12.56 ITGA2 ITGA2B PLCG2 SYK TBXA2R
4
Show member pathways
12.09 SYK PLCG2 FCER1G
5 12.04 VWF ITGA2B ITGA2
6
Show member pathways
12.01 PLCG2 ITGA2B ITGA2
7
Show member pathways
11.96 SYK PLCG2 ITGA2B ITGA2
8
Show member pathways
11.95 FCER1G GP6 SELP
9
Show member pathways
11.91 VWF ITGA2B ITGA2
10
Show member pathways
11.8 PLCG2 ITGA2B ITGA2 FCER1G
11 11.74 ITGA2B ITGA2 GP1BA
12
Show member pathways
11.6 VWF SYK ITGA2B GP1BA
13
Show member pathways
11.53 SYK PLCG2 GP6 FCER1G CLEC1B
14
Show member pathways
11.52 SYK PLCG2 FCER1G
15
Show member pathways
11.45 SYK PLCG2 FCER1G
16 11.15 ITGA2B ITGA2
17 11.11 TBXA2R SYK
18
Show member pathways
10.99 VWF ITGA2 GP6 GP1BA FCER1G
19 10.92 SYK PLCG2
20 10.87 VWF TBXA2R PLCG2 P2RY12 ITGA2B ITGA2

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 10.11 CLEC1B FCER1G GP1BA GP6 SELP TBXA2R
2 plasma membrane GO:0005887 10.11 CLEC1B FCER1G GP1BA GP6 SELP TBXA2R
3 membrane GO:0016020 10.02 ANO6 CLEC1B FCER1G GP1BA GP6 ITGA2
4 membrane GO:0016021 10.02 ANO6 CLEC1B FCER1G GP1BA GP6 ITGA2
5 external side of plasma membrane GO:0009897 9.91 SELP ITGA2B ITGA2 GP1BA FCER1G
6 platelet alpha granule membrane GO:0031092 9.62 SELP ITGA2B
7 cell surface GO:0009986 9.5 P2RY12 ITGA2B ITGA2 GP6 GP1BA FCER1G

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 10.26 VWF SELP ITGA2B ITGA2 GP1BA
2 integrin-mediated signaling pathway GO:0007229 10.06 SYK ITGA2B ITGA2
3 calcium-mediated signaling GO:0019722 10.02 SYK PLCG2 P2RY12
4 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.91 SYK FCER1G
5 positive regulation of smooth muscle contraction GO:0045987 9.9 TBXA2R ITGA2
6 positive regulation of cell adhesion mediated by integrin GO:0033630 9.89 SYK P2RY12
7 positive regulation of leukocyte migration GO:0002687 9.88 SELP ITGA2
8 macrophage activation involved in immune response GO:0002281 9.87 PLCG2 SYK
9 cell activation GO:0001775 9.86 SYK PLCG2
10 positive regulation of leukocyte tethering or rolling GO:1903238 9.84 SELP GP1BA
11 positive regulation of platelet activation GO:0010572 9.83 SELP GP1BA
12 neutrophil activation involved in immune response GO:0002283 9.8 SYK FCER1G
13 Fc-epsilon receptor signaling pathway GO:0038095 9.8 SYK PLCG2 FCER1G
14 regulation of platelet activation GO:0010543 9.78 FCER1G SYK
15 collagen-activated signaling pathway GO:0038065 9.76 ITGA2 GP6
16 cellular response to lipid GO:0071396 9.73 SYK PLCG2
17 positive regulation of phagocytosis, engulfment GO:0060100 9.73 ANO6 ITGA2 PLCG2
18 interleukin-3-mediated signaling pathway GO:0038156 9.71 SYK FCER1G
19 enzyme-linked receptor protein signaling pathway GO:0007167 9.69 SYK GP6
20 cellular response to lectin GO:1990858 9.67 SYK PLCG2
21 blood coagulation GO:0007596 9.65 VWF P2RY12 ITGA2 GP6 GP1BA ANO6
22 hemostasis GO:0007599 9.63 VWF P2RY12 GP6 GP1BA
23 platelet activation GO:0030168 9.4 VWF SYK PLCG2 P2RY12 GP6 GP1BA

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

# Name GO ID Score Top Affiliating Genes
1 collagen binding GO:0005518 9.43 VWF ITGA2 GP6
2 integrin binding GO:0005178 9.23 VWF SYK ITGA2B ITGA2

Sources for Bleeding Disorder, Platelet-Type, 11

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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