MCID: BLD124
MIFTS: 38

Bleeding Disorder, Platelet-Type, 11

Categories: Genetic diseases, Rare diseases, Blood diseases

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

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 11:

Name: Bleeding Disorder, Platelet-Type, 11 53 24 13 69
Glycoprotein Vi Deficiency 53 12 49 24 71
Gp Vi Deficiency 53 12 49 24 71
Bdplt11 53 12 49 24 71
Bleeding Diathesis Due to a Collagen Receptor Defect 49 24 55
Bleeding Diathesis Due to Glycoprotein Vi Deficiency 49 55
Platelet-Type Bleeding Disorder 11 12 28
Hemorrhage 41 69
Bleeding Disorder, Platelet-Type 11 71
Platelet-Type Bleeding Disorder-11 49

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
variable severity


HPO:

31
bleeding disorder, platelet-type, 11:
Onset and clinical course variable expressivity infantile onset
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 614201
Disease Ontology 12 DOID:0111057
ICD10 32 D69.8
ICD10 via Orphanet 33 D69.8
MedGen 39 C3280120

Summaries for Bleeding Disorder, Platelet-Type, 11

NIH Rare Diseases : 49 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. Last updated: 8/9/2017

MalaCards based summary : Bleeding Disorder, Platelet-Type, 11, also known as glycoprotein vi deficiency, is related to hereditary hemorrhagic telangiectasia and hemorrhage, intracerebral, 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). Affiliated tissues include skin.

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.

Genetics Home Reference : 24 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).

OMIM : 53 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 : 71 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

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

(show top 50) (show all 1453)
# Related Disease Score Top Affiliating Genes
1 hereditary hemorrhagic telangiectasia 12.3
2 hemorrhage, intracerebral 12.3
3 crimean-congo hemorrhagic fever 12.3
4 hemorrhagic fever with renal syndrome 12.3
5 omsk hemorrhagic fever 12.3
6 argentine hemorrhagic fever 12.2
7 telangiectasia, hereditary hemorrhagic, type 1 12.2
8 hemorrhagic fever 12.2
9 acute hemorrhagic leukoencephalitis 12.2
10 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.2
11 marburg hemorrhagic fever 12.2
12 bolivian hemorrhagic fever 12.2
13 telangiectasia, hereditary hemorrhagic, type 2 12.2
14 ebola hemorrhagic fever 12.2
15 hemorrhagic cystitis 12.2
16 dengue hemorrhagic fever 12.2
17 acute hemorrhagic conjunctivitis 12.2
18 venezuelan hemorrhagic fever 12.2
19 alkhurma hemorrhagic fever 12.1
20 lujo hemorrhagic fever 12.1
21 viral hemorrhagic fever 12.1
22 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.1
23 korean hemorrhagic fever 12.1
24 brazilian hemorrhagic fever 12.1
25 telangiectasia, hereditary hemorrhagic, type 5 12.1
26 hemorrhagic disease 12.0
27 hemorrhagic shock and encephalopathy syndrome 12.0
28 telangiectasia, hereditary hemorrhagic, type 3 12.0
29 telangiectasia, hereditary hemorrhagic, type 4 12.0
30 chapare hemorrhagic fever 12.0
31 whitewater arroyo hemorrhagic fever 11.9
32 balkan hemorrhagic fever 11.9
33 cerebral hemorrhage 11.9
34 acute hemorrhagic encephalitis 11.9
35 pontine hemorrhage 11.9
36 diffuse alveolar hemorrhage 11.9
37 vitamin k deficiency hemorrhagic disease 11.9
38 bilateral massive adrenal hemorrhage 11.9
39 hemorrhagic proctocolitis 11.9
40 cerebral amyloid angiopathy, app-related 11.9
41 cerebral amyloid angiopathy, cst3-related 11.8
42 dengue disease 11.8
43 antithrombin, familial hemorrhagic diathesis due to 11.7
44 hemorrhagic disease due to alpha-1-antitrypsin pittsburgh mutation 11.7
45 acquired aneurysmal subarachnoid hemorrhage 11.7
46 goodpasture syndrome 11.7
47 arteriovenous malformations of the brain 11.6
48 brain small vessel disease with or without ocular anomalies 11.6
49 gastric ulcer 11.6
50 leptospirosis 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 via clinical synopsis from OMIM:

53
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:

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

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


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

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 28 GP6

Anatomical Context for Bleeding Disorder, Platelet-Type, 11

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

38
Skin

Publications for Bleeding Disorder, Platelet-Type, 11

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

# Title Authors Year
1
[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:

71
# 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 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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