BDPLT11
MCID: BLD124
MIFTS: 59

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 25 13 73
Glycoprotein Vi Deficiency 57 12 53 25 75
Gp Vi Deficiency 57 12 53 25 75
Bdplt11 57 12 53 25 75
Platelet-Type Bleeding Disorder 11 12 29 6 15
Bleeding Diathesis Due to a Collagen Receptor Defect 53 25 59
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 53 59
Hemorrhage 44 73
Bleeding Disorder, Platelet-Type 11 75
Bleeding Disorder, Platelet Type 11 40
Platelet-Type Bleeding Disorder-11 53

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

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


Classifications:



External Ids:

OMIM 57 614201
Disease Ontology 12 DOID:0111057
ICD10 33 D69.8
ICD10 via Orphanet 34 D69.8
MedGen 42 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 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 Innate Immune System and Akt Signaling. Affiliated tissues include skin, lung and brain, 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 : 53 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)

UniProtKB/Swiss-Prot : 75 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 1744)
# Related Disease Score Top Affiliating Genes
1 von willebrand disease, type 2 31.1 CD36 GP6 ITGA2
2 thrombocytopenia due to platelet alloimmunization 29.7 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 12.4
7 omsk hemorrhagic fever 12.4
8 hemorrhagic fever with renal syndrome 12.4
9 telangiectasia, hereditary hemorrhagic, type 1 12.4
10 argentine hemorrhagic fever 12.4
11 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.4
12 acute hemorrhagic leukoencephalitis 12.4
13 hemorrhagic fever 12.4
14 hemorrhagic cystitis 12.3
15 telangiectasia, hereditary hemorrhagic, type 2 12.3
16 marburg hemorrhagic fever 12.3
17 bolivian hemorrhagic fever 12.3
18 ebola hemorrhagic fever 12.3
19 dengue hemorrhagic fever 12.3
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 12.2
27 telangiectasia, hereditary hemorrhagic, type 4 12.2
28 brazilian hemorrhagic fever 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 12.1
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 vitamin k deficiency hemorrhagic disease 12.0
40 diffuse alveolar hemorrhage 12.0
41 cerebral amyloid angiopathy, app-related 12.0
42 hemorrhagic proctocolitis 12.0
43 cerebral amyloid angiopathy, cst3-related 12.0
44 telangiectasia, hereditary hemorrhagic, type 3 12.0
45 dengue disease 12.0
46 antithrombin, familial hemorrhagic diathesis due to 11.9
47 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 11.9
48 acquired aneurysmal subarachnoid hemorrhage 11.9
49 goodpasture syndrome 11.8
50 arteriovenous malformations of the brain 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

Symptoms via clinical synopsis from OMIM:

57
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

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

32
# 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
5 ecchymosis 32 HP:0031364

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, pelvic pain, coughing, icterus, vertigo/dizziness, dyspepsia, heartburn, gastrointestinal gas, symptoms, halitosis, 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 10.06 CD36 CTTN F2R FCER1G FCGR2A GP6
2 cellular MP:0005384 10.02 CD36 CTTN F2R FCER1G ITGA2 PLCG2
3 immune system MP:0005387 9.96 CD36 CTTN F2R FCER1G FCGR2A GP6
4 mortality/aging MP:0010768 9.7 CD36 CTTN DDX41 F2R FCER1G FCGR2A
5 limbs/digits/tail MP:0005371 9.55 F2R FCER1G PLCG2 SRC SYK
6 skeleton MP:0005390 9.17 CD36 F2R FCER1G FCGR2A PLCG2 SRC

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 29 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

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

41
Skin, Lung, Brain, Kidney, Liver, Bone, Heart

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:

75
# 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
6 GP6 NM_016363.5(GP6): c.479G> A (p.Trp160Ter) single nucleotide variant Pathogenic rs886043669 GRCh37 Chromosome 19, 55539077: 55539077
7 GP6 NM_016363.5(GP6): c.479G> A (p.Trp160Ter) single nucleotide variant Pathogenic rs886043669 GRCh38 Chromosome 19, 55027709: 55027709

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 50)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.89 CD36 DDX41 FCER1G FCGR2A PLCG2 SRC
2
Show member pathways
13.27 FCER1G ITGA2 PLCG2 SRC SYK VAV1
3
Show member pathways
13.25 CD36 F2R ITGA2 PLCG2 SRC VAV1
4
Show member pathways
12.92 FCGR2A ITGA2 PLCG2 SRC SYK
5
Show member pathways
12.89 CD36 F2R FCER1G GP6 ITGA2 PLCG2
6
Show member pathways
12.79 FCER1G PLCG2 SRC SYK VAV1
7
Show member pathways
12.78 ITGA2 PLCG2 SRC VAV1
8
Show member pathways
12.76 F2R ITGA2 PLCG2 SRC SYK VAV1
9
Show member pathways
12.7 CTTN ITGA2 SRC VAV1
10
Show member pathways
12.62 PLCG2 SRC SYK VAV1
11
Show member pathways
12.54 CTTN PLCG2 SRC VAV1
12
Show member pathways
12.52 FCER1G PLCG2 SYK VAV1
13 12.51 F2R ITGA2 SRC VAV1
14
Show member pathways
12.42 FCER1G PLCG2 SRC SYK VAV1
15
Show member pathways
12.39 FCER1G PLCG2 SYK VAV1
16
Show member pathways
12.3 FCER1G PLCG2 SRC SYK
17
Show member pathways
12.27 FCGR2A PLCG2 SYK VAV1
18
Show member pathways
12.27 F2R FCER1G PLCG2 SYK
19 12.17 CTTN ITGA2 PLCG2 SRC
20
Show member pathways
12.12 FCER1G GP6 SRC
21 12.11 FCER1G FCGR2A SRC SYK
22
Show member pathways
12.09 FCER1G PLCG2 SRC SYK
23
Show member pathways
12.08 SRC SYK VAV1
24
Show member pathways
12.08 ITGA2 PLCG2 SRC SYK
25
Show member pathways
12.07 FCGR2A PLCG2 SRC SYK VAV1
26
Show member pathways
12.06 F2R ITGA2 PLCG2 SRC SYK VAV1
27 12.05 CD36 FCGR2A ITGA2
28
Show member pathways
12.04 CD36 GP6 ITGA2
29 11.95 FCGR2A PLCG2 SYK
30
Show member pathways
11.93 FCGR2A PLCG2 SYK VAV1
31 11.9 CD36 FCGR2A ITGA2
32 11.86 ITGA2 SRC VAV1
33
Show member pathways
11.84 FCER1G PLCG2 SYK
34
Show member pathways
11.84 FCER1G GP6 PLCG2 SYK VAV1
35
Show member pathways
11.82 PLCG2 SYK VAV1
36 11.72 FCGR2A PLCG2 SYK VAV1
37 11.66 ITGA2 SRC VAV1
38 11.66 FCER1G FCGR2A ITGA2 PLCG2
39 11.54 ITGA2 SRC VAV1
40
Show member pathways
11.38 FCGR2A PLCG2 SRC SYK
41 11.33 PLCG2 SRC VAV1
42 11.32 F2R FCER1G FCGR2A GP6 ITGA2 PLCG2
43 11.22 CTTN SRC
44 11.22 ITGA2 SRC
45 11.21 SRC SYK
46 11.06 CD36 F2R GP6 ITGA2 PLCG2
47 10.93 SYK VAV1
48 10.9 CTTN SRC
49 10.8 SRC SYK
50 10.69 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 plasma membrane GO:0005886 9.36 CD36 CTTN F2R FCER1G FCGR2A GP6
2 cell surface GO:0009986 9.35 CD36 F2R FCER1G GP6 ITGA2
3 podosome GO:0002102 9.16 CTTN SRC

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

(show all 33)
# Name GO ID Score Top Affiliating Genes
1 intracellular signal transduction GO:0035556 9.93 PLCG2 SRC SYK VAV1
2 cell proliferation GO:0008283 9.91 DDX41 ITGA2 SRC SYK
3 leukocyte migration GO:0050900 9.83 FCER1G GP6 SRC
4 positive regulation of peptidyl-tyrosine phosphorylation GO:0050731 9.76 CD36 SRC SYK
5 neutrophil chemotaxis GO:0030593 9.74 FCER1G SYK VAV1
6 Fc-epsilon receptor signaling pathway GO:0038095 9.73 FCER1G PLCG2 SYK VAV1
7 positive regulation of cell adhesion GO:0045785 9.7 ITGA2 SRC VAV1
8 negative regulation of extrinsic apoptotic signaling pathway GO:2001237 9.66 CTTN SRC
9 positive regulation of epithelial cell migration GO:0010634 9.65 ITGA2 SRC
10 positive regulation of cytokine secretion GO:0050715 9.65 SRC SYK
11 receptor internalization GO:0031623 9.65 CD36 FCER1G SYK
12 blood coagulation GO:0007596 9.65 CD36 F2R FCER1G GP6 ITGA2
13 focal adhesion assembly GO:0048041 9.64 CTTN ITGA2
14 positive regulation of collagen biosynthetic process GO:0032967 9.64 F2R ITGA2
15 positive regulation of receptor internalization GO:0002092 9.63 PLCG2 SYK
16 positive regulation of type I interferon production GO:0032481 9.63 DDX41 PLCG2 SYK
17 positive regulation of interleukin-4 production GO:0032753 9.62 FCER1G SYK
18 positive regulation of smooth muscle cell migration GO:0014911 9.62 ITGA2 SRC
19 stimulatory C-type lectin receptor signaling pathway GO:0002223 9.62 FCER1G PLCG2 SRC SYK
20 response to fatty acid GO:0070542 9.61 CD36 SRC
21 positive regulation of blood coagulation GO:0030194 9.6 CD36 F2R
22 positive regulation of phagocytosis, engulfment GO:0060100 9.59 CD36 ITGA2
23 positive regulation of mast cell degranulation GO:0043306 9.58 FCER1G SYK
24 cellular response to low-density lipoprotein particle stimulus GO:0071404 9.58 CD36 FCER1G SYK
25 enzyme linked receptor protein signaling pathway GO:0007167 9.56 GP6 SYK
26 neutrophil activation involved in immune response GO:0002283 9.55 FCER1G SYK
27 Fc-gamma receptor signaling pathway involved in phagocytosis GO:0038096 9.55 FCGR2A PLCG2 SRC SYK VAV1
28 interleukin-3-mediated signaling pathway GO:0038156 9.54 FCER1G SYK
29 positive regulation of smooth muscle contraction GO:0045987 9.54 CTTN F2R ITGA2
30 regulation of platelet activation GO:0010543 9.51 FCER1G SYK
31 serotonin secretion by platelet GO:0002554 9.49 FCER1G SYK
32 integrin-mediated signaling pathway GO:0007229 9.35 FCER1G ITGA2 SRC SYK VAV1
33 platelet activation GO:0030168 9.17 F2R FCER1G GP6 PLCG2 SRC SYK

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

# Name GO ID Score Top Affiliating Genes
1 protein binding GO:0005515 9.93 CD36 CTTN DDX41 F2R FCER1G FCGR2A
2 integrin binding GO:0005178 9.5 ITGA2 SRC SYK
3 SH2 domain binding GO:0042169 9.37 SRC SYK
4 IgG binding GO:0019864 9.26 FCER1G FCGR2A
5 Toll-like receptor binding GO:0035325 8.96 CD36 SYK
6 phosphotyrosine residue binding GO:0001784 8.8 PLCG2 SYK VAV1

Sources for Bleeding Disorder, Platelet-Type, 11

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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