BDPLT11
MCID: BLD124
MIFTS: 67

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 43 13 71
Glycoprotein Vi Deficiency 57 12 20 43 73
Gp Vi Deficiency 57 12 20 43 73
Bdplt11 57 12 20 43 73
Platelet-Type Bleeding Disorder 11 12 29 6 15
Bleeding Diathesis Due to a Collagen Receptor Defect 20 43 58
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 20 58
Hemorrhage 44 71
Bleeding Disorder, Platelet-Type 11 73
Bleeding Disorder, Platelet Type 11 39
Platelet-Type Bleeding Disorder-11 20

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®:

57 (Updated 05-Mar-2021)
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® 57 614201
OMIM Phenotypic Series 57 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

MedlinePlus Genetics : 43 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 glanzmann thrombasthenia and thrombocytopenia due to platelet alloimmunization, 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 Response to elevated platelet cytosolic Ca2+ and CLEC7A (Dectin-1) signaling. The drugs Probucol and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and whole blood, and related phenotypes are epistaxis and bruising susceptibility

Disease Ontology : 12 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.

GARD : 20 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) (Updated 05-Mar-2021)

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 2425)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 30.8 SELP ITGA2 GP6 GP1BA
2 thrombocytopenia due to platelet alloimmunization 30.6 SYK SELP ITGA2 GP1BA
3 cerebrovascular disease 30.5 SELP ITGA2 GP1BA
4 thrombocytopenic purpura, autoimmune 30.3 SELP GP6 GP1BA
5 vascular disease 30.2 SELP ITGA2 GP6 GP1BA
6 von willebrand's disease 30.1 SELP GP1BA
7 fetal and neonatal alloimmune thrombocytopenia 30.0 ITGA2 GP1BA
8 hemorrhagic disease 30.0 SELP ITGA2 GP6 GP1BA
9 thrombocytopenia 29.9 SYK SELP PLCG2 ITGA2 GP6 GP1BA
10 arteriosclerosis 29.9 SELP ITGA2 GP1BA
11 intracranial thrombosis 29.8 SELP GP6 GP1BA
12 coronary thrombosis 29.5 SELP GP6 GP1BA
13 thrombosis 29.5 SELP ITGA2 GP6 GP1BA
14 blood coagulation disease 29.5 SELP ITGA2 GP6 GP1BA
15 von willebrand disease, type 1 29.3 GP6 GP1BA
16 carotid artery thrombosis 29.3 SELP GP6 GP1BA
17 thrombasthenia 29.3 SELP ITGA2 GP1BA CD36
18 bernard-soulier syndrome 29.2 SELP ITGA2 GP6 GP1BA
19 gray platelet syndrome 28.6 SELP PLCG2 GP6 CD36
20 blood platelet disease 28.2 SELP ITGA2 GP6 GP1BA CD36
21 cerebral amyloid angiopathy, cst3-related 11.6
22 hemorrhage, intracerebral 11.6
23 cerebral amyloid angiopathy, app-related 11.5
24 gastric ulcer 11.5
25 gastrojejunal ulcer 11.4
26 goodpasture syndrome 11.4
27 retinal arteries, tortuosity of 11.4
28 peptic ulcer disease 11.4
29 arteriovenous malformations of the brain 11.3
30 brain small vessel disease 1 with or without ocular anomalies 11.3
31 hydrocephalus 11.2
32 aneurysm, intracranial berry, 1 11.2
33 pontine hemorrhage 11.2
34 arteriovenous malformation 11.2
35 diffuse alveolar hemorrhage 11.1
36 eales disease 11.1
37 bilateral massive adrenal hemorrhage 11.1
38 factor x deficiency 11.1
39 col4a1-related familial vascular leukoencephalopathy 11.1
40 thrombophilia due to protein s deficiency, autosomal recessive 11.1
41 cerebral aneurysms 11.1
42 aneurysm 11.1
43 intracranial aneurysm 11.1
44 intracranial berry aneurysm 11.1
45 aneurysm, intracranial berry, 12 11.0
46 cerebral cavernous malformations 11.0
47 twin-to-twin transfusion syndrome 11.0
48 active peptic ulcer disease 11.0
49 factor v deficiency 11.0
50 alcoholic gastritis 11.0

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®:

57 (Updated 05-Mar-2021)
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 05-Mar-2021)

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


nausea and vomiting, constipation, muscle weakness, polydipsia, fatigue, fever, angina pectoris, abdominal pain, hemoptysis, chest pain, headache, pruritus, syncope, diarrhea, edema, pain, chronic pain, sciatica, halitosis, dyspepsia, icterus, coughing, vertigo/dizziness, symptoms, 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 9.85 CD36 CLEC1B FCER1G GP1BA GP6 ITGA2
2 homeostasis/metabolism MP:0005376 9.65 CD36 CLEC1B FCER1G GP1BA GP6 ITGA2
3 immune system MP:0005387 9.23 CD36 CLEC1B FCER1G GP6 PLCG2 SELP

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 734)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Probucol Approved, Investigational Phase 4 23288-49-5 4912
2
Glycerol Approved, Investigational Phase 4 56-81-5 753
3
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
4
Prucalopride Approved Phase 4 179474-81-8
5
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
6
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
7
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
8
Menthol Approved Phase 4 2216-51-5 16666
9
Borage oil Approved, Investigational Phase 4
10
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
11
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
12
Clopidogrel Approved Phase 4 120202-66-6, 113665-84-2 60606
13
Bevacizumab Approved, Investigational Phase 4 216974-75-3
14
Magnesium Sulfate Approved, Investigational, Vet_approved Phase 4 7487-88-9 24083
15
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
16
Aminocaproic acid Approved, Investigational Phase 4 60-32-2 564
17
Lactulose Approved Phase 4 4618-18-2 11333
18
Caffeine Approved Phase 4 58-08-2 2519
19
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
20
Ticagrelor Approved Phase 4 274693-27-5 9871419
21 Bemiparin Approved, Investigational Phase 4 91449-79-5
22
Lactitol Approved, Investigational Phase 4 585-86-4 157355
23
Mefenamic acid Approved Phase 4 61-68-7 4044
24
Prazosin Approved Phase 4 19216-56-9 4893
25
Nadolol Approved Phase 4 42200-33-9 39147
26
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
27
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
28
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
29
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
30
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
31
Tamoxifen Approved Phase 4 10540-29-1 2733526
32
Hydroxyurea Approved Phase 4 127-07-1 3657
33
Anagrelide Approved Phase 4 68475-42-3 2182
34
Methylene blue Approved, Investigational Phase 4 61-73-4
35
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
36
Sucralfate Approved Phase 4 54182-58-0
37
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
38
Linaclotide Approved Phase 4 851199-59-2 65351
39
Misoprostol Approved Phase 4 59122-46-2 5282381
40
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
41
Warfarin Approved Phase 4 81-81-2 6691 54678486
42
Morphine Approved, Investigational Phase 4 57-27-2 5288826
43
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
44
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
45
Propranolol Approved, Investigational Phase 4 525-66-6 4946
46
Methylergonovine Approved Phase 4 113-42-8 8226
47
Ergonovine Approved Phase 4 60-79-7 443884
48
Histamine Approved, Investigational Phase 4 51-45-6, 75614-87-8 774
49
Esmolol Approved Phase 4 81147-92-4, 103598-03-4 59768
50
Cefazolin Approved Phase 4 25953-19-9 656510 33255

Interventional clinical trials:

(show top 50) (show all 2684)
# Name Status NCT ID Phase Drugs
1 Study Using Plasma for Patients Requiring Emergency Surgery: A Randomized Pilot Trial of Early Plasma for Patients Undergoing Emergency Surgery for Hemorrhagic Shock Unknown status NCT01221389 Phase 4 Human Plasma
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 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
4 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
5 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
6 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
7 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)
8 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
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 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
11 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
12 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
13 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
14 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
15 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
16 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
17 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
18 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
19 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)
20 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
21 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
22 ED90 Determination of Carbetocin for the Prevention of Postpartum Uterine Atony in Women Undergoing an Elective Cesarean Delivery Unknown status NCT01579201 Phase 4 Carbetocin
23 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
24 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
25 Normothermia in Patients With Acute Cerebral Damage Unknown status NCT00491192 Phase 4 Diclofenac
26 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
27 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)
28 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
29 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
30 Prevention of Postpartum Hemorrhage With Tranexamic Acid (TXA) Unknown status NCT03326596 Phase 4 Tranexamic Acid 1000 mg/10ml normal saline infusion
31 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
32 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
33 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
34 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
35 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
36 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)
37 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT02270723 Phase 4 5% Human Albumin " Behring";Lactated Ringer
38 Activates Charcoal for Patients Undergoing Invasive Procedure Delayed Due to Direct Oral Anticoagulants Unknown status NCT02969746 Phase 4 Activated Charcoal
39 Prevention of Menstrual Migraines: Effects of Estrogen Add-back During the HFI in Patients Using Continuous Oral Contraceptives. Unknown status NCT01251263 Phase 4 Estradiol or Placebo;Estradiol or Placebo
40 Irritation and Anal Bleeding in Patients Affected by Hemorrhoids: Comparative Evaluation of Three Different Treatments. Unknown status NCT03569930 Phase 4 flavonoid-based supplements;Centella Complex
41 RCT of Carvedilol vs Variceal Band Ligation in the Primary Prophylaxis of Oesophageal Variceal Haemorrhage Unknown status NCT01070641 Phase 4 Carvedilol
42 The Effect of Preoperative Tranexamic Acid on Blood Loss and Transfusion Rates in Intertrochanteric and Subtrochanteric Femur Fractures. Unknown status NCT02580227 Phase 4 Tranexamic Acid
43 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4 Norethindrone acetate pretreatment
44 Phase 4 Study Comparison of Two Combined Oral Contraceptive Regimens and an Intravaginal Hormonal Ring Against Placebo for Management of Bleeding Problems in Women Using Implanon, the Sub-dermal Contraceptive Implant Unknown status NCT01384331 Phase 4 Marvelon
45 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
46 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
47 A Prospective Randomized Clinical Trial of Doxycycline 20mg Twice a Day Versus Placebo on the Bleeding and Spotting in Women After Insertion of a Levonorgestrel Implant (Norplant) Protocol #2002-1 Unknown status NCT00064766 Phase 4 doxycycline
48 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
49 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
50 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4

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

Inferred drug relations via UMLS 71 / NDF-RT 51 :


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
Liver, Placenta, Whole Blood, Brain, Skin, Bone, Prostate

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. 20 57 6
19552682 2009
2
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 6 57
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. 20
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 (show top 50) (show all 218)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GP6 GP6, ARG38CYS Variation Pathogenic 30503
2 GP6 GP6, 5-BP DUP, 356AGCCC Duplication Pathogenic 30504
3 GP6 NM_001083899.2(GP6):c.584G>A (p.Ser195Asn) SNV Pathogenic 691634 rs200525940 19:55538972-55538972 19:55027604-55027604
4 GP6 GP6, 16-BP DEL Deletion Pathogenic 30506
5 ITGA2 NM_002203.4(ITGA2):c.*3358G>C SNV Uncertain significance 353850 rs552507591 5:52389787-52389787 5:53093957-53093957
6 ITGA2 NM_002203.4(ITGA2):c.*1322T>C SNV Uncertain significance 353804 rs369001095 5:52387751-52387751 5:53091921-53091921
7 ITGA2 NM_002203.4(ITGA2):c.*1671G>C SNV Uncertain significance 353807 rs531102187 5:52388100-52388100 5:53092270-53092270
8 ITGA2 NM_002203.4(ITGA2):c.*3113G>C SNV Uncertain significance 353844 rs886060686 5:52389542-52389542 5:53093712-53093712
9 ITGA2 NM_002203.4(ITGA2):c.*4028A>C SNV Uncertain significance 353864 rs879585300 5:52390457-52390457 5:53094627-53094627
10 ITGA2 NM_002203.4(ITGA2):c.*3237A>C SNV Uncertain significance 353847 rs886060688 5:52389666-52389666 5:53093836-53093836
11 ITGA2 NM_002203.4(ITGA2):c.*2608A>G SNV Uncertain significance 353830 rs886060681 5:52389037-52389037 5:53093207-53093207
12 ITGA2 NM_002203.4(ITGA2):c.*483del Deletion Uncertain significance 353793 rs886060667 5:52386909-52386909 5:53091079-53091079
13 ITGA2 NM_002203.4(ITGA2):c.*3599_*3600insTTATAAACAACTTTGTAGGACTAT Insertion Uncertain significance 353856 rs57674800 5:52390026-52390027 5:53094196-53094197
14 ITGA2 NM_002203.4(ITGA2):c.*3414A>C SNV Uncertain significance 353853 rs546009701 5:52389843-52389843 5:53094013-53094013
15 ITGA2 NM_002203.4(ITGA2):c.*1947T>C SNV Uncertain significance 353813 rs561106268 5:52388376-52388376 5:53092546-53092546
16 ITGA2 NM_002203.4(ITGA2):c.*430G>C SNV Uncertain significance 353790 rs886060666 5:52386859-52386859 5:53091029-53091029
17 ITGA2 NM_002203.4(ITGA2):c.*2883_*2893dup Duplication Uncertain significance 353836 rs6149022 5:52389311-52389312 5:53093481-53093482
18 ITGA2 NM_002203.4(ITGA2):c.1958C>A (p.Ala653Asp) SNV Uncertain significance 353759 rs748826809 5:52362962-52362962 5:53067132-53067132
19 ITGA2 NM_002203.4(ITGA2):c.*2429C>T SNV Uncertain significance 353822 rs886060677 5:52388858-52388858 5:53093028-53093028
20 ITGA2 NM_002203.4(ITGA2):c.*3164del Deletion Uncertain significance 353845 rs886060687 5:52389592-52389592 5:53093762-53093762
21 ITGA2 NM_002203.4(ITGA2):c.*1199C>T SNV Uncertain significance 353802 rs1042323 5:52387628-52387628 5:53091798-53091798
22 ITGA2 NM_002203.4(ITGA2):c.*859T>C SNV Uncertain significance 353799 rs886060670 5:52387288-52387288 5:53091458-53091458
23 ITGA2 NM_002203.4(ITGA2):c.614G>T (p.Gly205Val) SNV Uncertain significance 353736 rs886060657 5:52344584-52344584 5:53048754-53048754
24 ITGA2 NM_002203.4(ITGA2):c.*3996G>T SNV Uncertain significance 353862 rs566829678 5:52390425-52390425 5:53094595-53094595
25 ITGA2 NM_002203.4(ITGA2):c.*1356C>T SNV Uncertain significance 353805 rs771530392 5:52387785-52387785 5:53091955-53091955
26 ITGA2 NM_002203.4(ITGA2):c.*60G>A SNV Uncertain significance 353785 rs886060663 5:52386489-52386489 5:53090659-53090659
27 ITGA2 NM_002203.4(ITGA2):c.*2653T>G SNV Uncertain significance 353831 rs886060682 5:52389082-52389082 5:53093252-53093252
28 ITGA2 NM_002203.4(ITGA2):c.3110del (p.Phe1037fs) Deletion Uncertain significance 353777 rs886060662 5:52377490-52377490 5:53081660-53081660
29 ITGA2 NM_002203.4(ITGA2):c.*3594_*3597delinsTTTATAAACAACTTTGTAGGACT Indel Uncertain significance 353854 rs886060690 5:52390023-52390026 5:53094193-53094196
30 ITGA2 NM_002203.4(ITGA2):c.*2921G>A SNV Uncertain significance 353837 rs886060685 5:52389350-52389350 5:53093520-53093520
31 ITGA2 NM_002203.4(ITGA2):c.*609T>G SNV Uncertain significance 353794 rs886060668 5:52387038-52387038 5:53091208-53091208
32 ITGA2 NM_002203.4(ITGA2):c.*2089G>C SNV Uncertain significance 353817 rs886060674 5:52388518-52388518 5:53092688-53092688
33 ITGA2 NM_002203.4(ITGA2):c.1602+15dup Duplication Uncertain significance 353754 rs545988273 5:52358761-52358762 5:53062931-53062932
34 ITGA2 NM_002203.4(ITGA2):c.*2268dup Duplication Uncertain significance 353820 rs533206560 5:52388694-52388695 5:53092864-53092865
35 ITGA2 NM_002203.4(ITGA2):c.*2450G>A SNV Uncertain significance 353823 rs886060678 5:52388879-52388879 5:53093049-53093049
36 ITGA2 NM_002203.4(ITGA2):c.2069A>G (p.Gln690Arg) SNV Uncertain significance 353760 rs886060660 5:52363073-52363073 5:53067243-53067243
37 ITGA2 NM_002203.4(ITGA2):c.*2529_*2532del Deletion Uncertain significance 353826 rs886060680 5:52388955-52388958 5:53093125-53093128
38 ITGA2 NM_002203.4(ITGA2):c.-99G>C SNV Uncertain significance 353729 rs886060656 5:52285200-52285200 5:52989370-52989370
39 ITGA2 NM_002203.4(ITGA2):c.*3409A>G SNV Uncertain significance 353852 rs542924934 5:52389838-52389838 5:53094008-53094008
40 ITGA2 NM_002203.4(ITGA2):c.*2782C>G SNV Uncertain significance 353835 rs886060684 5:52389211-52389211 5:53093381-53093381
41 ITGA2 NM_002203.4(ITGA2):c.*3599_*3600insTATATAAACAACTTTGTAGGACTAT Insertion Uncertain significance 353855 rs57674800 5:52390026-52390027 5:53094196-53094197
42 ITGA2 NM_002203.4(ITGA2):c.*60G>T SNV Uncertain significance 353786 rs886060663 5:52386489-52386489 5:53090659-53090659
43 ITGA2 NM_002203.4(ITGA2):c.*2674G>C SNV Uncertain significance 353832 rs886060683 5:52389103-52389103 5:53093273-53093273
44 ITGA2 NM_002203.4(ITGA2):c.1108G>A (p.Gly370Arg) SNV Uncertain significance 353749 rs140178479 5:52353866-52353866 5:53058036-53058036
45 ITGA2 NM_002203.4(ITGA2):c.*613C>T SNV Uncertain significance 353795 rs537086711 5:52387042-52387042 5:53091212-53091212
46 ITGA2 NM_002203.4(ITGA2):c.*1044_*1045dup Duplication Uncertain significance 353801 rs886060671 5:52387471-52387472 5:53091641-53091642
47 ITGA2 NM_002203.4(ITGA2):c.2826-12A>T SNV Uncertain significance 353775 rs886060661 5:52374590-52374590 5:53078760-53078760
48 ITGA2 NM_002203.4(ITGA2):c.*850_*854del Deletion Uncertain significance 353798 rs752068879 5:52387275-52387279 5:53091445-53091449
49 ITGA2 NM_002203.4(ITGA2):c.*3820T>C SNV Uncertain significance 353858 rs886060692 5:52390249-52390249 5:53094419-53094419
50 ITGA2 NM_002203.4(ITGA2):c.185+10T>C SNV Uncertain significance 353732 rs758980432 5:52322708-52322708 5:53026878-53026878

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 18)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.89 SYK SELP PLCG2 ITGA2 GP6 GP1BA
2
Show member pathways
12.16 SYK PLCG2 FCER1G
3
Show member pathways
12.14 TEC SYK PLCG2
4
Show member pathways
12.12 SYK PLCG2 FCER1G
5
Show member pathways
12.1 TEC SYK PLCG2
6
Show member pathways
11.96 SELP GP6 FCER1G
7
Show member pathways
11.94 SYK PLCG2 FCER1G CLEC1B
8
Show member pathways
11.86 ITGA2 GP6 GP1BA CD36
9
Show member pathways
11.84 SYK PLCG2 GP6 FCER1G CLEC1B
10 11.81 TEC SYK PLCG2
11 11.75 ITGA2 GP1BA CD36
12
Show member pathways
11.71 SYK PLCG2 FCER1G
13
Show member pathways
11.68 TEC SYK PLCG2
14 11.63 ITGA2 GP1BA CD36
15 11.54 PLCG2 ITGA2 FCER1G
16 11.33 PLCG2 ITGA2 GP6 CD36
17 11.19 SYK PLCG2 ITGA2 GP6 GP1BA FCER1G
18 10.37 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 external side of plasma membrane GO:0009897 9.62 SELP ITGA2 FCER1G CD36
2 cell surface GO:0009986 9.55 ITGA2 GP6 GP1BA FCER1G CD36
3 integral component of plasma membrane GO:0005887 9.5 TSPAN9 SELP GP6 GP1BA FCER1G CLEC1B
4 platelet alpha granule membrane GO:0031092 9.37 SELP CD36
5 plasma membrane GO:0005886 9.36 TSPAN9 TEC SYK SELP PLCG2 ITGA2
6 tetraspanin-enriched microdomain GO:0097197 9.26 TSPAN9 GP6

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.92 SELP ITGA2 GP1BA CD36
2 leukocyte migration GO:0050900 9.77 SELP GP6 FCER1G
3 B cell receptor signaling pathway GO:0050853 9.73 TEC SYK PLCG2
4 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.72 SYK PLCG2 FCER1G
5 cell surface receptor signaling pathway GO:0007166 9.72 SYK GP1BA FCER1G CLEC1B CD36
6 integrin-mediated signaling pathway GO:0007229 9.69 TEC SYK ITGA2
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.67 TEC SYK CD36
8 Fc-epsilon receptor signaling pathway GO:0038095 9.67 TEC SYK PLCG2 FCER1G
9 positive regulation of interleukin-12 production GO:0032735 9.61 SYK CD36
10 positive regulation of epithelial cell migration GO:0010634 9.61 PLCG2 ITGA2
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.6 TEC SYK
12 leukocyte cell-cell adhesion GO:0007159 9.58 SYK SELP
13 positive regulation of receptor internalization GO:0002092 9.58 SYK PLCG2
14 receptor internalization GO:0031623 9.58 SYK FCER1G CD36
15 positive regulation of interleukin-4 production GO:0032753 9.57 SYK FCER1G
16 blood coagulation GO:0007596 9.55 ITGA2 GP6 GP1BA FCER1G CD36
17 positive regulation of leukocyte migration GO:0002687 9.54 SELP ITGA2
18 positive regulation of phagocytosis, engulfment GO:0060100 9.52 ITGA2 CD36
19 enzyme linked receptor protein signaling pathway GO:0007167 9.48 SYK GP6
20 neutrophil activation involved in immune response GO:0002283 9.46 SYK FCER1G
21 interleukin-3-mediated signaling pathway GO:0038156 9.43 SYK FCER1G
22 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.43 SYK FCER1G CD36
23 regulation of platelet activation GO:0010543 9.13 TEC SYK FCER1G
24 platelet activation GO:0030168 9.1 SYK PLCG2 GP6 GP1BA FCER1G CLEC1B

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

# Name GO ID Score Top Affiliating Genes
1 transmembrane signaling receptor activity GO:0004888 9.33 GP6 FCER1G CLEC1B
2 non-membrane spanning protein tyrosine kinase activity GO:0004715 9.26 TEC SYK
3 phosphotyrosine residue binding GO:0001784 8.96 SYK PLCG2
4 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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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