BDPLT11
MCID: BLD124
MIFTS: 68

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 70
Glycoprotein Vi Deficiency 57 12 20 43 72
Gp Vi Deficiency 57 12 20 43 72
Bdplt11 57 12 20 43 72
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 70
Bleeding Disorder, Platelet-Type 11 72
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 20-May-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 70 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 1 and stroke, ischemic, 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 Akt Signaling and Response to elevated platelet cytosolic Ca2+. The drugs Probucol and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver, placenta and brain, 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 20-May-2021)

UniProtKB/Swiss-Prot : 72 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 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 2458)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 1 31.0 ITGA2B ITGA2 GP6 GP1BA
2 stroke, ischemic 30.9 SELP P2RY12 GP6 GP1BA
3 thrombocytopenia due to platelet alloimmunization 30.6 SYK SELP ITGA2B ITGA2 GP1BA
4 cerebrovascular disease 30.5 SELP ITGA2B ITGA2 GP1BA
5 von willebrand's disease 30.3 SELP ITGA2B GP1BA
6 thrombocytopenic purpura, autoimmune 30.1 SELP ITGA2B GP6 GP1BA
7 vascular disease 30.0 SELP ITGA2B ITGA2 GP6 GP1BA
8 fetal and neonatal alloimmune thrombocytopenia 29.8 ITGA2B ITGA2 GP1BA
9 arteriosclerosis 29.8 SELP ITGA2B ITGA2 GP1BA
10 intracranial thrombosis 29.6 SELP ITGA2B GP6 GP1BA
11 thrombocytopenia 29.5 SYK SELP PLCG2 P2RY12 ITGA2B ITGA2
12 myocardial infarction 29.4 SELP P2RY12 ITGA2B ITGA2 GP6 GP1BA
13 thrombasthenia 29.4 SELP ITGA2B ITGA2 GP1BA CD36
14 hemorrhagic disease 29.3 SELP P2RY12 ITGA2B ITGA2 GP6 GP1BA
15 von willebrand disease, type 1 29.3 GP6 GP1BA
16 carotid artery thrombosis 29.0 SELP ITGA2B GP6 GP1BA
17 intermediate coronary syndrome 29.0 SELP P2RY12 ITGA2B
18 left bundle branch hemiblock 28.9 P2RY12 ITGA2B
19 thrombosis 28.9 SELP P2RY12 ITGA2B ITGA2 GP6 GP1BA
20 coronary thrombosis 28.9 SELP P2RY12 ITGA2B GP6 GP1BA
21 bernard-soulier syndrome 28.5 SELP P2RY12 ITGA2B ITGA2 GP6 GP1BA
22 gray platelet syndrome 28.3 TREML1 SELP PLCG2 ITGA2B GP6 CD36
23 blood platelet disease 28.3 SELP ITGA2B ITGA2 GP6 GP1BA CD36
24 blood coagulation disease 28.2 SELP P2RY12 ITGA2B ITGA2 GP6 GP1BA
25 cerebral amyloid angiopathy, cst3-related 11.6
26 hemorrhage, intracerebral 11.6
27 cerebral amyloid angiopathy, app-related 11.5
28 gastric ulcer 11.5
29 gastrojejunal ulcer 11.4
30 goodpasture syndrome 11.4
31 retinal arteries, tortuosity of 11.4
32 peptic ulcer disease 11.4
33 brain small vessel disease 1 with or without ocular anomalies 11.3
34 arteriovenous malformations of the brain 11.3
35 hydrocephalus 11.2
36 aneurysm, intracranial berry, 1 11.2
37 pontine hemorrhage 11.2
38 arteriovenous malformation 11.2
39 diffuse alveolar hemorrhage 11.1
40 eales disease 11.1
41 bilateral massive adrenal hemorrhage 11.1
42 factor x deficiency 11.1
43 col4a1-related familial vascular leukoencephalopathy 11.1
44 thrombophilia due to protein s deficiency, autosomal recessive 11.1
45 aneurysm 11.1
46 cerebral aneurysms 11.1
47 intracranial aneurysm 11.1
48 intracranial berry aneurysm 11.1
49 aneurysm, intracranial berry, 12 11.0
50 cerebral cavernous malformations 11.0

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:

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 20-May-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 20-May-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

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.1 FCER1G GP1BA ITGA2 ITGA2B P2RY12 SYK

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

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.17 ANO6 CD36 CLEC1B FCER1G GP1BA GP6
2 homeostasis/metabolism MP:0005376 10.1 ANO6 CD36 CLEC1B FCER1G GP1BA GP6
3 cardiovascular system MP:0005385 10.02 ANO6 CD36 CLEC1B FCER1G ITGA2B PLCG2
4 immune system MP:0005387 9.9 ANO6 CD36 CLEC1B FCER1G GP6 ITGA2B
5 integument MP:0010771 9.56 ANO6 CLEC1B GP6 ITGA2 ITGA2B PLCG2
6 skeleton MP:0005390 9.28 ANO6 CD36 FCER1G GP6 ITGA2B PLCG2

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 735)
# 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
Prucalopride Approved Phase 4 179474-81-8
4
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
5
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
6
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
7
Hydromorphone Approved, Illicit Phase 4 466-99-9 5284570
8
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
9
Phenylpropanolamine Approved, Vet_approved, Withdrawn Phase 4 14838-15-4 26934
10
Menthol Approved Phase 4 2216-51-5 16666
11
Borage oil Approved, Investigational Phase 4
12
Anastrozole Approved, Investigational Phase 4 120511-73-1 2187
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
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
18
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
19
Lactulose Approved Phase 4 4618-18-2 11333
20
Nadolol Approved Phase 4 42200-33-9 39147
21
Phenytoin Approved, Vet_approved Phase 4 57-41-0 1775
22
Fosphenytoin Approved, Investigational Phase 4 93390-81-9 56339
23 Bemiparin Approved, Investigational Phase 4 91449-79-5
24
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
25
Tranylcypromine Approved, Investigational Phase 4 155-09-9 441233
26
Mefenamic acid Approved Phase 4 61-68-7 4044
27
Ticagrelor Approved Phase 4 274693-27-5 9871419
28
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
29
Prazosin Approved Phase 4 19216-56-9 4893
30
Isosorbide Dinitrate Approved, Investigational Phase 4 87-33-2 6883
31
AT-101 Approved, Investigational Phase 4 90141-22-3, 652-67-5 12597
32
Tamoxifen Approved Phase 4 10540-29-1 2733526
33
Hydroxyurea Approved Phase 4 127-07-1 3657
34
Anagrelide Approved Phase 4 68475-42-3 2182
35
Methylene blue Approved, Investigational Phase 4 61-73-4
36
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
37
Linaclotide Approved Phase 4 851199-59-2 65351
38
Sucralfate Approved Phase 4 54182-58-0
39
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
40
Acenocoumarol Approved, Investigational Phase 4 152-72-7 9052 54676537
41
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
42
Nitroprusside Approved, Investigational Phase 4 15078-28-1 11963622
43
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
44
Alprostadil Approved, Investigational Phase 4 745-65-3 149351 5280723
45
Propranolol Approved, Investigational Phase 4 525-66-6 4946
46
Ergonovine Approved Phase 4 60-79-7 443884
47
Esmolol Approved Phase 4 81147-92-4, 103598-03-4 59768
48
Methylergonovine Approved Phase 4 113-42-8 8226
49
Cefazolin Approved Phase 4 25953-19-9 656510 33255
50
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029

Interventional clinical trials:

(show top 50) (show all 2729)
# 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 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
3 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
4 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
5 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
6 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
7 Glibenclamide in Aneurysmatic Subarachnoid Hemorrhage: A Prospective and Randomized Study Unknown status NCT03569540 Phase 4 Glibenclamide
8 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)
9 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
10 Phase 3 Study of Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4 oxygen
11 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
12 Normothermia in Patients With Acute Cerebral Damage Unknown status NCT00491192 Phase 4 Diclofenac
13 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4 statin
14 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
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 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
17 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
18 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
19 ED90 Determination of Carbetocin for the Prevention of Postpartum Uterine Atony in Women Undergoing an Elective Cesarean Delivery Unknown status NCT01579201 Phase 4 Carbetocin
20 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
21 Phase IV Study Comparing Helicobacter Pylori Empiric Eradication With Test-Guided Treatment in Patients With Peptic Ulcer Bleeding Unknown status NCT00687336 Phase 4
22 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
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 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
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 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
27 Randomized and Controlled Clinical Trial of Transfusional Requirements in Patients With Acute Gastrointestinal Bleeding. Unknown status NCT00414713 Phase 4
28 Tranexamic Acid for Preventing Postpartum Hemorrhage After Cesarean Section Unknown status NCT02936661 Phase 4 Tranexamic Acid;Placebo
29 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
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 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
33 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
34 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
35 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
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 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
40 Single Centre Randomised Controlled Trial to Assess the Effect of the Addition of Twenty-four Hours of Oral Tranexamic Acid Post-operatively to a Single Intra-operative Intravenous Dose of Tranexamic Acid on Calculated Blood Loss Following Primary Hip and Knee Arthroplasty. Unknown status NCT03690037 Phase 4 Tranexamic Acid 100 MG/ML;Tranexamic Acid 500 MG
41 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
42 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
43 Evaluation of Feasibility and Effectiveness of 4th Generation Bipolar Radiofrequency Endometrial Ablation Device: a Cohort Study Unknown status NCT02449304 Phase 4
44 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
45 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
46 An Open-labeled Pilot Study to Determine the Efficacy of an E2//Nomegestrol Acetate (E2/NOMAC)Combination Oral Contraceptive (COC) in the Management of Heavy Menstrual Bleeding (HMB) Unknown status NCT01715025 Phase 4 E2Nomac
47 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
48 Effect of Colloid Versus Crystalloid on Coagulation in Elective Urological Surgery Unknown status NCT01444508 Phase 4 Ringer-lactate "SAD";HES 130/04
49 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
50 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

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

Inferred drug relations via UMLS 70 / 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, Brain, Heart, Kidney, Pituitary, Bone

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 6 20
19552682 2009
2
Absence of collagen-induced platelet activation caused by compound heterozygous GPVI mutations. 57 6
19549989 2009
3
An adenine insertion in exon 6 of human GP6 generates a truncated protein associated with a bleeding disorder in four Chilean families. 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 226)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GP6 GP6, ARG38CYS Variation Pathogenic 30503 GRCh37:
GRCh38:
2 GP6 GP6, 5-BP DUP, 356AGCCC Duplication Pathogenic 30504 GRCh37:
GRCh38:
3 GP6 NM_001083899.2(GP6):c.584G>A (p.Ser195Asn) SNV Pathogenic 691634 rs200525940 GRCh37: 19:55538972-55538972
GRCh38: 19:55027604-55027604
4 GP6 GP6, 16-BP DEL Deletion Pathogenic 30506 GRCh37:
GRCh38:
5 GP6 NM_001083899.2(GP6):c.1752_1753insTCCC (p.Gly585fs) Insertion Pathogenic 777546 rs761185718 GRCh37: 19:55525560-55525561
GRCh38: 19:55014192-55014193
6 GP6 NM_001083899.2(GP6):c.967A>T (p.Lys323Ter) SNV Pathogenic 708353 rs757950138 GRCh37: 19:55526346-55526346
GRCh38: 19:55014978-55014978
7 ITGA2 NM_002203.4(ITGA2):c.2418del (p.Pro807fs) Deletion Pathogenic 1032038 GRCh37: 5:52368514-52368514
GRCh38: 5:53072684-53072684
8 ITGA2 NM_002203.4(ITGA2):c.2429+2T>G SNV Pathogenic 1032039 GRCh37: 5:52368527-52368527
GRCh38: 5:53072697-53072697
9 GP6 NM_001083899.2(GP6):c.1003C>T (p.Gln335Ter) SNV Pathogenic 1033678 GRCh37: 19:55526310-55526310
GRCh38: 19:55014942-55014942
10 GP6 NM_001083899.2(GP6):c.280del (p.Ser94fs) Deletion Pathogenic 1033679 GRCh37: 19:55543552-55543552
GRCh38: 19:55032184-55032184
11 GP6 NM_001083899.2(GP6):c.780-2A>G SNV Pathogenic 1033680 GRCh37: 19:55526535-55526535
GRCh38: 19:55015167-55015167
12 GP6 NM_001083899.2(GP6):c.989C>T (p.Pro330Leu) SNV Pathogenic 1033681 GRCh37: 19:55526324-55526324
GRCh38: 19:55014956-55014956
13 ITGA2 NM_002203.4(ITGA2):c.*465T>C SNV Uncertain significance 908011 GRCh37: 5:52386894-52386894
GRCh38: 5:53091064-53091064
14 ITGA2 NM_002203.4(ITGA2):c.*483G>A SNV Uncertain significance 908012 GRCh37: 5:52386912-52386912
GRCh38: 5:53091082-53091082
15 ITGA2 NM_002203.4(ITGA2):c.*661T>A SNV Uncertain significance 908013 GRCh37: 5:52387090-52387090
GRCh38: 5:53091260-53091260
16 ITGA2 NM_002203.4(ITGA2):c.2730C>T (p.Phe910=) SNV Uncertain significance 904635 GRCh37: 5:52370956-52370956
GRCh38: 5:53075126-53075126
17 ITGA2 NM_002203.4(ITGA2):c.2796C>G (p.Leu932=) SNV Uncertain significance 904637 GRCh37: 5:52371105-52371105
GRCh38: 5:53075275-53075275
18 ITGA2 NM_002203.4(ITGA2):c.2914A>T (p.Ile972Phe) SNV Uncertain significance 904638 GRCh37: 5:52374690-52374690
GRCh38: 5:53078860-53078860
19 ITGA2 NM_002203.4(ITGA2):c.*722T>C SNV Uncertain significance 904705 GRCh37: 5:52387151-52387151
GRCh38: 5:53091321-53091321
20 ITGA2 NM_002203.4(ITGA2):c.*803G>C SNV Uncertain significance 904706 GRCh37: 5:52387232-52387232
GRCh38: 5:53091402-53091402
21 ITGA2 NM_002203.4(ITGA2):c.*2367G>A SNV Uncertain significance 904778 GRCh37: 5:52388796-52388796
GRCh38: 5:53092966-53092966
22 ITGA2 NM_002203.4(ITGA2):c.*2414G>A SNV Uncertain significance 904779 GRCh37: 5:52388843-52388843
GRCh38: 5:53093013-53093013
23 ITGA2 NM_002203.4(ITGA2):c.171T>A (p.Asn57Lys) SNV Uncertain significance 905281 GRCh37: 5:52322684-52322684
GRCh38: 5:53026854-53026854
24 ITGA2 NM_002203.4(ITGA2):c.*1300C>T SNV Uncertain significance 905490 GRCh37: 5:52387729-52387729
GRCh38: 5:53091899-53091899
25 ITGA2 NM_002203.4(ITGA2):c.*1346C>T SNV Uncertain significance 905491 GRCh37: 5:52387775-52387775
GRCh38: 5:53091945-53091945
26 ITGA2 NM_002203.4(ITGA2):c.*1365G>A SNV Uncertain significance 905492 GRCh37: 5:52387794-52387794
GRCh38: 5:53091964-53091964
27 ITGA2 NM_002203.4(ITGA2):c.*1449T>C SNV Uncertain significance 905493 GRCh37: 5:52387878-52387878
GRCh38: 5:53092048-53092048
28 ITGA2 NM_002203.4(ITGA2):c.*2648A>G SNV Uncertain significance 905568 GRCh37: 5:52389077-52389077
GRCh38: 5:53093247-53093247
29 ITGA2 NM_002203.4(ITGA2):c.*3404T>C SNV Uncertain significance 905628 GRCh37: 5:52389833-52389833
GRCh38: 5:53094003-53094003
30 ITGA2 NM_002203.4(ITGA2):c.*3455A>G SNV Uncertain significance 905629 GRCh37: 5:52389884-52389884
GRCh38: 5:53094054-53094054
31 ITGA2 NM_002203.4(ITGA2):c.*3597A>T SNV Uncertain significance 905630 GRCh37: 5:52390026-52390026
GRCh38: 5:53094196-53094196
32 ITGA2 NM_002203.4(ITGA2):c.*3724T>C SNV Uncertain significance 905631 GRCh37: 5:52390153-52390153
GRCh38: 5:53094323-53094323
33 MOCS2 , ITGA2 NM_002203.4(ITGA2):c.*3813G>A SNV Uncertain significance 905632 GRCh37: 5:52390242-52390242
GRCh38: 5:53094412-53094412
34 ITGA2 NM_002203.4(ITGA2):c.*67G>C SNV Uncertain significance 905942 GRCh37: 5:52386496-52386496
GRCh38: 5:53090666-53090666
35 ITGA2 NM_002203.4(ITGA2):c.*298A>G SNV Uncertain significance 905943 GRCh37: 5:52386727-52386727
GRCh38: 5:53090897-53090897
36 ITGA2 NM_002203.4(ITGA2):c.*422C>T SNV Uncertain significance 905944 GRCh37: 5:52386851-52386851
GRCh38: 5:53091021-53091021
37 ITGA2 NM_002203.4(ITGA2):c.502+12A>G SNV Uncertain significance 905282 GRCh37: 5:52344319-52344319
GRCh38: 5:53048489-53048489
38 ITGA2 NM_002203.4(ITGA2):c.573A>G (p.Val191=) SNV Uncertain significance 905283 GRCh37: 5:52344543-52344543
GRCh38: 5:53048713-53048713
39 ITGA2 NM_002203.4(ITGA2):c.*1897A>T SNV Uncertain significance 906005 GRCh37: 5:52388326-52388326
GRCh38: 5:53092496-53092496
40 ITGA2 NM_002203.4(ITGA2):c.*2682T>A SNV Uncertain significance 906075 GRCh37: 5:52389111-52389111
GRCh38: 5:53093281-53093281
41 ITGA2 NM_002203.4(ITGA2):c.*2690G>C SNV Uncertain significance 906076 GRCh37: 5:52389119-52389119
GRCh38: 5:53093289-53093289
42 ITGA2 NM_002203.4(ITGA2):c.*4083G>C SNV Uncertain significance 906142 GRCh37: 5:52390512-52390512
GRCh38: 5:53094682-53094682
43 ITGA2 NM_002203.4(ITGA2):c.602G>A (p.Gly201Asp) SNV Uncertain significance 906879 GRCh37: 5:52344572-52344572
GRCh38: 5:53048742-53048742
44 ITGA2 NM_002203.4(ITGA2):c.2235G>T (p.Gln745His) SNV Uncertain significance 906962 GRCh37: 5:52366090-52366090
GRCh38: 5:53070260-53070260
45 ITGA2 NM_002203.4(ITGA2):c.*1957G>C SNV Uncertain significance 907023 GRCh37: 5:52388386-52388386
GRCh38: 5:53092556-53092556
46 ITGA2 NM_002203.4(ITGA2):c.*1980T>C SNV Uncertain significance 907024 GRCh37: 5:52388409-52388409
GRCh38: 5:53092579-53092579
47 ITGA2 NM_002203.4(ITGA2):c.*2009C>A SNV Uncertain significance 907025 GRCh37: 5:52388438-52388438
GRCh38: 5:53092608-53092608
48 ITGA2 NM_002203.4(ITGA2):c.*2051A>G SNV Uncertain significance 907026 GRCh37: 5:52388480-52388480
GRCh38: 5:53092650-53092650
49 ITGA2 NM_002203.4(ITGA2):c.*3358G>C SNV Uncertain significance 353850 rs552507591 GRCh37: 5:52389787-52389787
GRCh38: 5:53093957-53093957
50 ITGA2 NM_002203.4(ITGA2):c.*1322T>C SNV Uncertain significance 353804 rs369001095 GRCh37: 5:52387751-52387751
GRCh38: 5:53091921-53091921

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

72
# 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 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.18 TEC SYK PLCG2 ITGA2B ITGA2 FCER1G
2
Show member pathways
12.97 SYK SELP PLCG2 P2RY12 ITGA2B ITGA2
3
Show member pathways
12.61 SYK PLCG2 ITGA2B ITGA2
4
Show member pathways
12.02 SYK PLCG2 FCER1G CLEC1B
5
Show member pathways
12 SYK PLCG2 ITGA2B ITGA2
6
Show member pathways
11.99 SELP GP6 FCER1G
7
Show member pathways
11.96 ITGA2B ITGA2 GP6 GP1BA CD36
8
Show member pathways
11.9 SYK PLCG2 GP6 FCER1G CLEC1B
9 11.82 ITGA2B ITGA2 GP1BA CD36
10
Show member pathways
11.75 SYK PLCG2 FCER1G
11
Show member pathways
11.73 TEC SYK PLCG2
12 11.73 ITGA2B ITGA2 GP1BA CD36
13
Show member pathways
11.66 SYK ITGA2B GP1BA
14 11.63 PLCG2 ITGA2B ITGA2 FCER1G
15 11.32 SYK PLCG2 P2RY12 ITGA2B ITGA2 GP6
16 11.14 PLCG2 P2RY12 ITGA2B ITGA2 GP6 CD36
17 10.67 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 membrane GO:0016020 10.21 TSPAN9 TREML1 TEC SYK SELP P2RY12
2 integral component of membrane GO:0016021 10.1 TSPAN9 TREML1 SELP P2RY12 ITGA2B ITGA2
3 integral component of plasma membrane GO:0005887 9.95 TSPAN9 SELP GP6 GP1BA FCER1G CLEC1B
4 plasma membrane GO:0005886 9.83 TSPAN9 TREML1 TEC SYK SELP PLCG2
5 external side of plasma membrane GO:0009897 9.63 SELP P2RY12 ITGA2B ITGA2 FCER1G CD36
6 integrin complex GO:0008305 9.46 ITGA2B ITGA2
7 tetraspanin-enriched microdomain GO:0097197 9.43 TSPAN9 GP6
8 platelet alpha granule membrane GO:0031092 9.43 SELP ITGA2B CD36
9 cell surface GO:0009986 9.28 TREML1 P2RY12 ITGA2B ITGA2 GP6 GP1BA

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.97 SELP ITGA2B ITGA2 GP1BA CD36
2 cell surface receptor signaling pathway GO:0007166 9.83 SYK GP1BA FCER1G CLEC1B CD36
3 Fc-epsilon receptor signaling pathway GO:0038095 9.81 TEC SYK PLCG2 FCER1G
4 B cell receptor signaling pathway GO:0050853 9.78 TEC SYK PLCG2
5 platelet degranulation GO:0002576 9.77 SELP ITGA2B CD36
6 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.77 SYK PLCG2 FCER1G
7 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.74 TEC SYK CD36
8 calcium-mediated signaling GO:0019722 9.73 TREML1 PLCG2 P2RY12
9 integrin-mediated signaling pathway GO:0007229 9.71 TEC SYK ITGA2B ITGA2
10 hemostasis GO:0007599 9.7 P2RY12 GP6 GP1BA
11 platelet aggregation GO:0070527 9.67 P2RY12 ITGA2B GP1BA
12 receptor internalization GO:0031623 9.63 SYK FCER1G CD36
13 leukocyte cell-cell adhesion GO:0007159 9.62 SYK SELP
14 positive regulation of receptor internalization GO:0002092 9.62 SYK PLCG2
15 positive regulation of interleukin-4 production GO:0032753 9.61 SYK FCER1G
16 positive regulation of cell adhesion mediated by integrin GO:0033630 9.58 SYK P2RY12
17 enzyme linked receptor protein signaling pathway GO:0007167 9.55 SYK GP6
18 neutrophil activation involved in immune response GO:0002283 9.54 SYK FCER1G
19 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.54 SYK FCER1G CD36
20 positive regulation of leukocyte migration GO:0002687 9.5 SELP ITGA2B ITGA2
21 blood coagulation GO:0007596 9.5 P2RY12 ITGA2 GP6 GP1BA FCER1G CD36
22 interleukin-3-mediated signaling pathway GO:0038156 9.48 SYK FCER1G
23 positive regulation of phagocytosis, engulfment GO:0060100 9.43 ITGA2 CD36 ANO6
24 regulation of platelet activation GO:0010543 9.33 TEC SYK FCER1G
25 platelet activation GO:0030168 9.23 TREML1 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 transmembrane signaling receptor activity GO:0004888 9.26 TREML1 GP6 FCER1G CLEC1B
2 Toll-like receptor binding GO:0035325 8.62 SYK CD36

Sources for Bleeding Disorder, Platelet-Type, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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