BDPLT11
MCID: BLD124
MIFTS: 55

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 58 26 13 74
Glycoprotein Vi Deficiency 58 12 54 26 76
Gp Vi Deficiency 58 12 54 26 76
Bdplt11 58 12 54 26 76
Platelet-Type Bleeding Disorder 11 12 30 6 15
Bleeding Diathesis Due to a Collagen Receptor Defect 54 26 60
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 54 60
Hemorrhage 45 74
Bleeding Disorder, Platelet-Type 11 76
Bleeding Disorder, Platelet Type 11 41
Platelet-Type Bleeding Disorder-11 54

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

33
bleeding disorder, platelet-type, 11:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111057
OMIM 58 614201
ICD10 34 D69.8
ICD10 via Orphanet 35 D69.8
MedGen 43 C3280120

Summaries for Bleeding Disorder, Platelet-Type, 11

Genetics Home Reference : 26 Glycoprotein VI deficiency is a bleeding disorder associated with a decreased ability to form blood clots. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. Because people with glycoprotein VI deficiency cannot form blood clots normally, they have an increased risk of nosebleeds (epistaxis) and may experience abnormally heavy or prolonged bleeding following minor injury or surgery. In some affected individuals, spontaneous bleeding under the skin causes areas of discoloration (ecchymosis). Women with glycoprotein VI deficiency often have heavy or prolonged menstrual periods (menorrhagia).

MalaCards based summary : Bleeding Disorder, Platelet-Type, 11, also known as glycoprotein vi deficiency, is related to von willebrand disease, type 2 and thrombocytopenia due to platelet alloimmunization, and has symptoms including muscle weakness, nausea and vomiting and constipation. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Development Angiotensin activation of ERK. Affiliated tissues include skin, and related phenotypes are epistaxis and bruising susceptibility

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

NIH Rare Diseases : 54 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 : 58 Platelet-type bleeding disorder-11 is an autosomal recessive mild to moderate bleeding disorder caused by defective platelet activation and aggregation in response to collagen (summary by Dumont et al., 2009). (614201)

UniProtKB/Swiss-Prot : 76 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, 8 family:

Bleeding Disorder, Platelet-Type, 16 Bleeding Disorder, Platelet-Type, 17
Bleeding Disorder, Platelet-Type, 12 Bleeding Disorder, Platelet-Type, 13
Bleeding Disorder, Platelet-Type, 14 Bleeding Disorder, Platelet-Type, 9
Bleeding Disorder, Platelet-Type, 11 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

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

(show top 50) (show all 1856)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 31.2 CD36 GP6 ITGA2
2 thrombocytopenia due to platelet alloimmunization 30.0 FCGR2A ITGA2
3 gray platelet syndrome 28.9 CD36 GP6 PLCG2
4 hereditary hemorrhagic telangiectasia 12.5
5 hemorrhage, intracerebral 12.5
6 crimean-congo hemorrhagic fever 12.5
7 hemorrhagic fever with renal syndrome 12.5
8 omsk hemorrhagic fever 12.4
9 telangiectasia, hereditary hemorrhagic, type 1 12.4
10 argentine hemorrhagic fever 12.4
11 hemorrhagic fever 12.4
12 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.4
13 acute hemorrhagic leukoencephalitis 12.4
14 hemorrhagic cystitis 12.4
15 marburg hemorrhagic fever 12.4
16 ebola hemorrhagic fever 12.4
17 telangiectasia, hereditary hemorrhagic, type 2 12.4
18 bolivian hemorrhagic fever 12.4
19 dengue hemorrhagic fever 12.4
20 venezuelan hemorrhagic fever 12.3
21 alkhurma hemorrhagic fever 12.3
22 lujo hemorrhagic fever 12.3
23 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.3
24 viral hemorrhagic fever 12.3
25 korean hemorrhagic fever 12.3
26 telangiectasia, hereditary hemorrhagic, type 5 12.3
27 brazilian hemorrhagic fever 12.2
28 telangiectasia, hereditary hemorrhagic, type 4 12.2
29 hemorrhagic disease 12.2
30 hemorrhagic shock and encephalopathy syndrome 12.2
31 chapare hemorrhagic fever 12.2
32 acute hemorrhagic conjunctivitis 12.2
33 cerebral hemorrhage 12.1
34 whitewater arroyo hemorrhagic fever 12.1
35 balkan hemorrhagic fever 12.1
36 acute hemorrhagic encephalitis 12.1
37 pontine hemorrhage 12.1
38 bilateral massive adrenal hemorrhage 12.1
39 diffuse alveolar hemorrhage 12.1
40 cerebral amyloid angiopathy, app-related 12.1
41 hemorrhagic proctocolitis 12.1
42 cerebral amyloid angiopathy, cst3-related 12.0
43 telangiectasia, hereditary hemorrhagic, type 3 12.0
44 dengue disease 12.0
45 antithrombin, familial hemorrhagic diathesis due to 11.9
46 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 11.9
47 acquired aneurysmal subarachnoid hemorrhage 11.9
48 goodpasture syndrome 11.8
49 arteriovenous malformations of the brain 11.8
50 retinal arteries, tortuosity of 11.8

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

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

33
# Description HPO Frequency HPO Source Accession
1 epistaxis 33 HP:0000421
2 bruising susceptibility 33 HP:0000978
3 prolonged bleeding time 33 HP:0003010
4 menorrhagia 33 HP:0000132
5 ecchymosis 33 HP:0031364

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
epistaxis

Skin Nails Hair Skin:
easy bruising
ecchymoses

Hematology:
prolonged bleeding time
menorrhagia
normal platelet morphology
bleeding, mild
postsurgical bleeding
more

Clinical features from OMIM:

614201

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


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

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

47
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.1 CD36 CLEC1B CTTN F2R FCER1G FCGR2A
2 cardiovascular system MP:0005385 9.97 CD36 CLEC1B CTTN F2R FCER1G PDPN
3 homeostasis/metabolism MP:0005376 9.96 CD36 CLEC1B F2R FCER1G GP6 ITGA2
4 immune system MP:0005387 9.9 CD36 CLEC1B CTTN F2R FCER1G FCGR2A
5 mortality/aging MP:0010768 9.73 CD36 CLEC1B CTTN DDX41 F2R FCER1G
6 skeleton MP:0005390 9.17 CD36 F2R FCER1G FCGR2A PDPN PLCG2

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 11

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 30 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

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

42
Skin

Publications for Bleeding Disorder, Platelet-Type, 11

Articles related to Bleeding Disorder, Platelet-Type, 11:

# Title Authors Year
1
Genetic and antibody-induced glycoprotein VI deficiency equally protects mice from mechanically and FeCl(3) -induced thrombosis. ( 21535392 )
2011
2
[Collagen adhesion-aggregation abnormality (2nd report)--congenital platelet membrane glycoprotein VI deficiency]. ( 2168494 )
1990

Variations for Bleeding Disorder, Platelet-Type, 11

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

76
# 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
# 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 NM_016363.5(GP6): c.524G> A (p.Ser175Asn) single nucleotide variant Pathogenic rs387906919 GRCh38 Chromosome 19, 55027664: 55027664
5 GP6 GP6, 16-BP DEL deletion Pathogenic

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 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.93 CD36 CLEC1B F2R FCER1G GP6 ITGA2
2
Show member pathways
12.73 F2R ITGA2 PLCG2 SYK VAV1
3
Show member pathways
12.46 FCER1G PLCG2 SYK VAV1
4
Show member pathways
12.4 FCER1G PLCG2 SYK VAV1
5
Show member pathways
12.32 FCER1G PLCG2 SYK VAV1
6
Show member pathways
12.22 FCGR2A PLCG2 SYK VAV1
7
Show member pathways
12.2 F2R FCER1G PLCG2 SYK
8 12.11 CTTN ITGA2 PLCG2
9
Show member pathways
12.08 FCGR2A PLCG2 SYK VAV1
10 12.05 FCER1G FCGR2A SYK
11
Show member pathways
12.03 F2R ITGA2 PLCG2 SYK VAV1
12
Show member pathways
12 CLEC1B FCER1G PLCG2 SYK
13 11.98 CD36 FCGR2A ITGA2
14
Show member pathways
11.96 CD36 GP6 ITGA2
15 11.87 FCGR2A PLCG2 SYK
16
Show member pathways
11.85 FCGR2A PLCG2 SYK VAV1
17 11.82 CD36 FCGR2A ITGA2
18
Show member pathways
11.76 PLCG2 SYK VAV1
19
Show member pathways
11.68 CLEC1B FCER1G GP6 PDPN PLCG2 SYK
20 11.66 FCGR2A PLCG2 SYK VAV1
21 11.6 FCER1G FCGR2A ITGA2 PLCG2
22
Show member pathways
11.43 FCGR2A PLCG2 SYK
23 11.36 CD36 F2R GP6 ITGA2 PLCG2
24 11.26 F2R FCER1G FCGR2A GP6 ITGA2 PLCG2
25 10.85 SYK VAV1
26 10.61 FCER1G GP6 ITGA2

GO Terms for Bleeding Disorder, Platelet-Type, 11

Cellular components related to Bleeding Disorder, Platelet-Type, 11 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.73 CD36 CLEC1B F2R FCER1G GP6 PDPN
2 cell surface GO:0009986 9.55 CD36 F2R FCER1G GP6 ITGA2
3 plasma membrane GO:0005886 9.4 CD36 CLEC1B CTTN F2R FCER1G FCGR2A
4 tetraspanin-enriched microdomain GO:0097197 8.96 GP6 PDPN

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 surface receptor signaling pathway GO:0007166 9.87 CD36 CLEC1B FCER1G SYK
2 neutrophil chemotaxis GO:0030593 9.75 FCER1G SYK VAV1
3 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.71 FCER1G PLCG2 SYK
4 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.71 FCGR2A PLCG2 SYK VAV1
5 Fc-epsilon receptor signaling pathway GO:0038095 9.67 FCER1G PLCG2 SYK VAV1
6 receptor internalization GO:0031623 9.65 CD36 FCER1G SYK
7 focal adhesion assembly GO:0048041 9.62 CTTN ITGA2
8 positive regulation of collagen biosynthetic process GO:0032967 9.61 F2R ITGA2
9 positive regulation of receptor internalization GO:0002092 9.61 PLCG2 SYK
10 positive regulation of type I interferon production GO:0032481 9.61 DDX41 PLCG2 SYK
11 positive regulation of interleukin-4 production GO:0032753 9.6 FCER1G SYK
12 positive regulation of blood coagulation GO:0030194 9.59 CD36 F2R
13 positive regulation of phagocytosis, engulfment GO:0060100 9.58 CD36 ITGA2
14 positive regulation of mast cell degranulation GO:0043306 9.56 FCER1G SYK
15 integrin-mediated signaling pathway GO:0007229 9.56 FCER1G ITGA2 SYK VAV1
16 enzyme linked receptor protein signaling pathway GO:0007167 9.55 GP6 SYK
17 neutrophil activation involved in immune response GO:0002283 9.52 FCER1G SYK
18 interleukin-3-mediated signaling pathway GO:0038156 9.51 FCER1G SYK
19 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.5 CD36 FCER1G SYK
20 regulation of platelet activation GO:0010543 9.49 FCER1G SYK
21 serotonin secretion by platelet GO:0002554 9.46 FCER1G SYK
22 blood coagulation GO:0007596 9.35 CD36 F2R FCER1G GP6 ITGA2
23 positive regulation of smooth muscle contraction GO:0045987 9.33 CTTN F2R ITGA2
24 platelet activation GO:0030168 9.23 CLEC1B F2R FCER1G GP6 PDPN PLCG2

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

# Name GO ID Score Top Affiliating Genes
1 IgG binding GO:0019864 9.16 FCER1G FCGR2A
2 Toll-like receptor binding GO:0035325 8.96 CD36 SYK
3 phosphotyrosine residue binding GO:0001784 8.8 PLCG2 SYK VAV1
4 protein binding GO:0005515 10.07 CD36 CLEC1B CTTN DDX41 F2R FCER1G

Sources for Bleeding Disorder, Platelet-Type, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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