BDPLT11
MCID: BLD124
MIFTS: 40

Bleeding Disorder, Platelet-Type, 11 (BDPLT11) malady

Categories: Genetic diseases, Blood diseases, Rare diseases

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

Aliases & Descriptions for Bleeding Disorder, Platelet-Type, 11:

Name: Bleeding Disorder, Platelet-Type, 11 54 25 13 69
Glycoprotein Vi Deficiency 12 25 66
Gp Vi Deficiency 12 25 66
Bdplt11 12 25 66
Bleeding Diathesis Due to a Collagen Receptor Defect 25 56
Bleeding Disorder, Platelet-Type 11 66 29
Hemorrhage 42 69
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 56
Bleeding Disorder, Platelet Type 11 24
Platelet-Type Bleeding Disorder 11 12

Characteristics:

Orphanet epidemiological data:

56
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;

HPO:

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


Classifications:



External Ids:

OMIM 54 614201
Disease Ontology 12 DOID:0111057
ICD10 33 D69.8
ICD10 via Orphanet 34 D69.8
MedGen 40 C3280120

Summaries for Bleeding Disorder, Platelet-Type, 11

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

MalaCards based summary : Bleeding Disorder, Platelet-Type, 11, also known as glycoprotein vi deficiency, is related to hereditary hemorrhagic telangiectasia and crimean-congo hemorrhagic fever, and has symptoms including epistaxis, bruising susceptibility and prolonged bleeding time. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet). The drugs Ranibizumab and Aspirin have been mentioned in the context of this disorder. Affiliated tissues include skin.

UniProtKB/Swiss-Prot : 66 Bleeding disorder, platelet-type 11: A mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen.

OMIM : 54 Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective... (614201) more...

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

Related Diseases for Bleeding Disorder, Platelet-Type, 11

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

Bleeding Disorder, Platelet-Type, 8 Bleeding Disorder, Platelet-Type, 19
Bleeding Disorder, Platelet-Type, 17 Bleeding Disorder, Platelet-Type, 18
Bleeding Disorder, Platelet-Type, 15 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant
Bleeding Disorder, Platelet-Type, 13 Platelet-Type Bleeding Disorder 20
Platelet-Type Bleeding Disorder 12

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

(show top 50) (show all 146)
id Related Disease Score Top Affiliating Genes
1 hereditary hemorrhagic telangiectasia 12.2
2 crimean-congo hemorrhagic fever 12.2
3 hemorrhage, intracerebral 12.1
4 omsk hemorrhagic fever 12.1
5 argentine hemorrhagic fever 12.1
6 hemorrhagic fever with renal syndrome 12.1
7 hemorrhagic fever 12.1
8 marburg hemorrhagic fever 12.1
9 acute hemorrhagic leukoencephalitis 12.1
10 ebola hemorrhagic fever 12.1
11 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.1
12 dengue hemorrhagic fever 12.1
13 hemorrhagic cystitis 12.1
14 bolivian hemorrhagic fever 12.1
15 acute hemorrhagic conjunctivitis 12.1
16 venezuelan hemorrhagic fever 12.0
17 alkhurma hemorrhagic fever 12.0
18 lujo hemorrhagic fever 12.0
19 viral hemorrhagic fever 12.0
20 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.0
21 telangiectasia, hereditary hemorrhagic, type 1 12.0
22 korean hemorrhagic fever 12.0
23 telangiectasia, hereditary hemorrhagic, type 2 11.9
24 telangiectasia, hereditary hemorrhagic, type 5 11.9
25 brazilian hemorrhagic fever 11.9
26 hemorrhagic disease 11.9
27 hemorrhagic shock and encephalopathy syndrome 11.9
28 chapare hemorrhagic fever 11.9
29 intracranial hemorrhage in brain cerebrovascular malformations 11.8
30 balkan hemorrhagic fever 11.8
31 whitewater arroyo hemorrhagic fever 11.8
32 cerebral hemorrhage 11.8
33 pontine hemorrhage 11.8
34 acute hemorrhagic encephalitis 11.8
35 diffuse alveolar hemorrhage 11.8
36 bilateral massive adrenal hemorrhage 11.8
37 hemorrhagic proctocolitis 11.7
38 cerebral amyloid angiopathy 11.7
39 telangiectasia, hereditary hemorrhagic, type 4 11.7
40 telangiectasia, hereditary hemorrhagic, type 3 11.7
41 eng-related hereditary hemorrhagic telangiectasia 11.7
42 acvrl1-related hereditary hemorrhagic telangiectasia 11.6
43 gdf2-related hereditary hemorrhagic telangiectasia 11.6
44 vitamin k deficiency hemorrhagic disease 11.6
45 acquired aneurysmal subarachnoid hemorrhage 11.6
46 smad4-related hereditary hemorrhagic telangiectasia 11.6
47 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 11.6
48 goodpasture syndrome 11.6
49 cerebral amyloid angiopathy, dutch, italian, iowa, flemish, arctic variants 11.5
50 dengue disease 11.5

Comorbidity relations with Bleeding Disorder, Platelet-Type, 11 via Phenotypic Disease Network (PDN): (show all 12)


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

Symptoms by clinical synopsis from OMIM:

614201

Clinical features from OMIM:

614201

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

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

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


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

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 1041)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ranibizumab Approved Phase 4,Phase 2,Phase 3,Phase 1 347396-82-1 459903
2
Aspirin Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-78-2 2244
3 Piracetam Approved Phase 4,Phase 3 7491-74-9
4
Tranexamic Acid Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 1197-18-8 5526
5
Acetaminophen Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 103-90-2 1983
6
Aminocaproic Acid Approved, Investigational Phase 4,Phase 2,Phase 1,Early Phase 1 60-32-2 564
7
Epinephrine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 51-43-4 5816
8
Lidocaine Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 137-58-6 3676
9
Desogestrel Approved Phase 4,Phase 3,Phase 2 54024-22-5 40973
10
Etonogestrel Approved, Investigational Phase 4,Phase 3,Phase 2 54048-10-1 40976 6917715
11
Carvedilol Approved, Investigational Phase 4,Phase 3 72956-09-3 2585
12
Menthol Approved Phase 4,Phase 3,Phase 2,Phase 1 2216-51-5 16666
13
Propranolol Approved, Investigational Phase 4,Phase 3,Phase 2 525-66-6 4946
14
Octreotide Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 83150-76-9 383414 6400441
15
Somatostatin Approved Phase 4,Phase 3,Phase 2,Phase 1 38916-34-6, 51110-01-1 53481605
16
Terlipressin Approved, Investigational Phase 4,Phase 2,Phase 3 14636-12-5 72081
17
Omeprazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2 73590-58-6 4594
18
Rabeprazole Approved, Investigational Phase 4,Phase 3,Phase 2 117976-89-3 5029
19
Heparin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 9005-49-6 772 46507594
20
Levonorgestrel Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 797-63-7, 17489-40-6 13109
21
Norethindrone Approved Phase 4,Phase 3,Phase 2 68-22-4 6230
22
Esomeprazole Approved, Investigational Phase 4,Phase 3,Phase 2 161796-78-7, 119141-88-7 4594 9579578
23
Lansoprazole Approved, Investigational Phase 4,Phase 3 103577-45-3 3883
24
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 50-28-2 5757 53477783
25
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 57-63-6 5991
26
Doxycycline Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 564-25-0 54671203
27
Ibuprofen Approved Phase 4,Phase 2,Phase 3,Phase 1 15687-27-1 3672
28
Iron Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 7439-89-6 23925
29
Pantoprazole Approved Phase 4,Phase 3,Phase 2,Phase 1 102625-70-7 4679
30
Ticlopidine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 55142-85-3 5472
31
Esmolol Approved Phase 4,Phase 3 103598-03-4, 81147-92-4 59768
32
Remifentanil Approved Phase 4,Phase 2 132875-61-7 60815
33
Benzocaine Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 1994-09-7, 94-09-7 2337
34
Zinc Approved Phase 4,Phase 2,Phase 3,Phase 1 7440-66-6 32051 23994
35
Nadolol Approved Phase 4,Phase 3 42200-33-9 39147
36
Nicardipine Approved Phase 4,Phase 3,Phase 2,Phase 1 55985-32-5 4474
37
Clevidipine Approved Phase 4,Phase 3,Phase 2 167221-71-8
38
Ergonovine Approved Phase 4,Phase 3 60-79-7 443884
39
Oxytocin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-56-6 439302 53477758
40
Carbetocin Approved Phase 4,Phase 3,Phase 2,Early Phase 1 37025-55-1 71715 16681432
41
Dalteparin Approved Phase 4,Phase 3,Phase 2,Phase 1 9041-08-1
42
Ecabet Approved, Investigational Phase 4 33159-27-2, 86408-72-2 65781
43
Diclofenac Approved, Vet_approved Phase 4,Phase 3 15307-86-5 3033
44
Rivaroxaban Approved Phase 4,Phase 2,Phase 3,Phase 1 366789-02-8
45
Tranylcypromine Approved Phase 4,Phase 3 155-09-9 441233
46 Dienogest Approved Phase 4,Phase 3,Phase 2 65928-58-7
47
Goserelin Approved Phase 4,Phase 3 65807-02-5 47725 5311128
48
Nandrolone Approved, Experimental, Illicit Phase 4,Phase 3 434-22-0, 62-90-8 9904 229455
49
Nandrolone decanoate Approved, Illicit Phase 4,Phase 3 360-70-3 9677
50 Nadroparin Approved Phase 4,Phase 3,Phase 2 9041-08-1

Interventional clinical trials:

(show top 50) (show all 5000)
id Name Status NCT ID Phase
1 Postpartum Oxygen Inhalation for the Treatment of Postpartum Haemorrhage Unknown status NCT01180192 Phase 4
2 Use of Intravitreal Ranibizumab in the Treatment of Vitreous Hemorrhage Unknown status NCT01824043 Phase 4
3 The Role of Statins in Preventing Cerebral Vasospasm Secondary to Subarachnoid Hemorrhage Unknown status NCT01346748 Phase 4
4 The Risk of Bleeding After Removal of Large Colorectal Polyps in Patients Taking Aspirin Unknown status NCT01549418 Phase 4
5 Seizure Prophylaxis With Levetiracetam in Aneurysmal Subarachnoid Hemorrhage - Pilot Study Unknown status NCT01935908 Phase 4
6 The Effect of Tranexamic Acid for Total Hip Arthroplasty Unknown status NCT02094066 Phase 4
7 Randomized Clinical Trial With Aminocaproic Acid in the Prevention of Exodontic Bleeding in Anticoagulants Patients Unknown status NCT02238288 Phase 4
8 Is Cerazette Use Before Nexplanon Insertion Predictive for Bleeding Pattern? Unknown status NCT01438736 Phase 4
9 Banding Ligation With Carvedilol Versus Carvedilol for the Prevention of First Bleeding Unknown status NCT01383044 Phase 4
10 Endoscopic Band Ligation (EBL) Versus Propranolol for Primary Prophylaxis of Variceal Bleeding Unknown status NCT00965900 Phase 4
11 Comparison of Terlipressin, Somatostatin, and Octreotide for Control of Variceal Bleeding Unknown status NCT00966355 Phase 4
12 Comparison of Oral Rabeprazole vs. iv Omeprazole in Mild to Moderate Nonvariceal Upper Gastrointestinal Bleeding Unknown status NCT00861640 Phase 4
13 RCT of Carvedilol Versus Variceal Band Ligation in the Primary Prophylaxis of Oesophageal Variceal Haemorrhage Unknown status NCT01070641 Phase 4
14 The Impact of Rockall Risk Scoring System on Management of Upper Gastrointestinal System Bleeding Unknown status NCT01269814 Phase 4
15 PCC and Fibrinogen Compared With FFP in PPH Unknown status NCT01910675 Phase 4
16 Prevention of Venous Thromboembolism in Patients With Acute Primary Intracerebral Hemorrhage Unknown status NCT00699465 Phase 4
17 Pretreatment With Norethindrone Acetate Prior to Levonorgestrel IUS Insertion for Heavy Menstrual Bleeding Unknown status NCT01391052 Phase 4
18 Early Feeding Following Ligation of Acute Bleeding Varices Unknown status NCT01287702 Phase 4
19 Helicobacter Pylori Empiric Treatment in Ulcer Bleeding Unknown status NCT00687336 Phase 4
20 Effectiveness of Intravenous Tranexamic Acid in Reducing Blood Loss During and After Cesarean Section Unknown status NCT02279186 Phase 4
21 Oral vs Intravenous and Proton Pump Inhibitor (PPI)for Peptic Ulcer Bleeding (PUB) Unknown status NCT01123031 Phase 4
22 The Effect of Human Albumin on Coagulation Competence and Hemorrhage Unknown status NCT02270723 Phase 4
23 New Treatments for Troublesome Bleeding in Implanon Users Unknown status NCT01384331 Phase 4
24 Norplant and Irregular Bleeding/Spotting Unknown status NCT00064766 Phase 4
25 A Double Blind Study Comparing Two Doses of IV Esomeprazole After Successful Endoscopic Therapy Unknown status NCT01275937 Phase 4
26 Evicel Study on the Peri-operative Bleeding in Total Knee Prothesis Surgery Unknown status NCT00983112 Phase 4
27 Aggressive Fever Control With Intravenous Ibuprofen After Non-traumatic Brain Hemorrhage Unknown status NCT01530880 Phase 4
28 Endoscopic Treatment Alone Versus Combined Propranolol and Endoscopic Treatment of Acute Variceal Hemorrhage in Patients With Hepatocellular Carcinoma Unknown status NCT01451658 Phase 4
29 Long-term Oral Esomeprazole for Prevention of Peptic Ulcer Rebleeding in High-risk Patients Unknown status NCT02456012 Phase 4
30 A New Treatment Option for Heavy Menstrual Bleeding Unknown status NCT01715025 Phase 4
31 Effect of Human Thrombin With Gelatin Matrix on Perioperative Blood Loss in Scoliosis Surgery Unknown status NCT01451788 Phase 4
32 Transfusion Requirements in Gastrointestinal (GI) Bleeding Unknown status NCT00414713 Phase 4
33 Capsule Endoscopy vs Standard of Care for Obscure Intestinal Bleeding Unknown status NCT00694954 Phase 4
34 Comparison of Floseal® and Tranexamic Acid on Bleeding Control After Total Knee Arthroplasty Unknown status NCT02152917 Phase 4
35 CavatermTM vs TCRE in Women With DUB Unknown status NCT00549159 Phase 4
36 Does Early Re-administration of Aspirin/Clopidogrel Increase the Risk of Bleeding From Artificial Ulcer After EMR or ESD? Unknown status NCT01621451 Phase 4
37 A Comparison of Esmolol and Remifentanil to Reduce Blood Loss Unknown status NCT01752959 Phase 4
38 Normoglycemia and Neurological Outcome Unknown status NCT01137773 Phase 4
39 Primary Prevention of Gastric Variceal Bleeding : Endoscopic Treatment Versus Non-selective Beta-blocker Unknown status NCT01298271 Phase 4
40 Double- Versus Single-balloon Enteroscopy for Obscure Small-bowel Bleeding Unknown status NCT01176864 Phase 4
41 Bipolar Sealer Aquamantys Use in Total Knee Replacement Unknown status NCT01736644 Phase 4
42 Tranexamic Acid in Major Vascular Surgery Unknown status NCT02335359 Phase 4
43 IV Double and Triple Concentrated Nicardipine for Stroke and ICH Unknown status NCT00325793 Phase 4
44 Subclinical Joint Bleeding in Irish Adults With Severe Haemophilia A on Personalised Prophylaxis Regimens Unknown status NCT02314325 Phase 4
45 A Trial of EVL\GVS Alone vs. EVL\GVS Combined Propranolol Unknown status NCT01298284 Phase 4
46 New Adjuvant Chemotherapy of Non Resectable Liver Metastasis of Colorectal Cancer Without Bleeding, Obstruction Unknown status NCT01307878 Phase 4
47 Primary Prevention of Patients With Hepatocellular Carcinoma and Concomitant Esophageal Varices Unknown status NCT01970748 Phase 4
48 The Efficacy and Safety of Cleviprex in Ventriculostomy Patients Requiring IV Antihypertensive Therapy Unknown status NCT01042574 Phase 4
49 The Effect of Topical Application of Tranexamic Acid in Total Hip Arthroplasty Through the Direct Anterior Approach Unknown status NCT01622946 Phase 4
50 Oxytocin in Cesarean Delivery Unknown status NCT01236482 Phase 4

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

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: hemorrhage

Genetic Tests for Bleeding Disorder, Platelet-Type, 11

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

id Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 11 29
2 Bleeding Disorder, Platelet Type 11 24 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

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

39
Skin

Publications for Bleeding Disorder, Platelet-Type, 11

Variations for Bleeding Disorder, Platelet-Type, 11

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

66
id Symbol AA change Variation ID SNP ID
1 GP6 p.Arg58Cys VAR_066590 rs199588110
2 GP6 p.Ser175Asn VAR_066591 rs387906919

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GP6 GP6, ARG38CYS undetermined variant Pathogenic
2 GP6 GP6, 5-BP DUP, 356AGCCC duplication Pathogenic
3 GP6 NM_016363.5(GP6): c.524G> A (p.Ser175Asn) single nucleotide variant Pathogenic rs387906919 GRCh37 Chromosome 19, 55539032: 55539032
4 GP6 GP6, 16-BP DEL deletion Pathogenic
5 GP6 NM_016363.5(GP6): c.479G> A (p.Trp160Ter) single nucleotide variant Pathogenic rs886043669 GRCh37 Chromosome 19, 55539077: 55539077

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

GO Terms for Bleeding Disorder, Platelet-Type, 11

Sources for Bleeding Disorder, Platelet-Type, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....