MCID: BLD124
MIFTS: 37

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 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
Bleeding Diathesis Due to a Collagen Receptor Defect 53 25 59
Platelet-Type Bleeding Disorder 11 12 29 6
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 hereditary hemorrhagic telangiectasia and hemorrhage, intracerebral, and has symptoms including abdominal pain, angina pectoris and chest pain. An important gene associated with Bleeding Disorder, Platelet-Type, 11 is GP6 (Glycoprotein VI Platelet). 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 : 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 1467)
# 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 omsk hemorrhagic fever 12.3
5 hemorrhagic fever with renal syndrome 12.3
6 argentine hemorrhagic fever 12.2
7 telangiectasia, hereditary hemorrhagic, type 1 12.2
8 juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 12.2
9 hemorrhagic fever 12.2
10 acute hemorrhagic leukoencephalitis 12.2
11 telangiectasia, hereditary hemorrhagic, type 2 12.2
12 marburg hemorrhagic fever 12.2
13 bolivian hemorrhagic fever 12.2
14 ebola hemorrhagic fever 12.2
15 hemorrhagic cystitis 12.2
16 dengue hemorrhagic fever 12.2
17 venezuelan hemorrhagic fever 12.2
18 alkhurma hemorrhagic fever 12.1
19 lujo hemorrhagic fever 12.1
20 hemorrhagic destruction of the brain, subependymal calcification, and cataracts 12.1
21 viral hemorrhagic fever 12.1
22 korean hemorrhagic fever 12.1
23 telangiectasia, hereditary hemorrhagic, type 5 12.1
24 telangiectasia, hereditary hemorrhagic, type 4 12.1
25 brazilian hemorrhagic fever 12.1
26 hemorrhagic disease 12.0
27 hemorrhagic shock and encephalopathy syndrome 12.0
28 chapare hemorrhagic fever 12.0
29 acute hemorrhagic conjunctivitis 12.0
30 whitewater arroyo hemorrhagic fever 11.9
31 balkan hemorrhagic fever 11.9
32 cerebral hemorrhage 11.9
33 acute hemorrhagic encephalitis 11.9
34 pontine hemorrhage 11.9
35 diffuse alveolar hemorrhage 11.9
36 cerebral amyloid angiopathy, app-related 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, cst3-related 11.9
41 dengue disease 11.8
42 telangiectasia, hereditary hemorrhagic, type 3 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 retinal arteries, tortuosity of 11.6
49 brain small vessel disease with or without ocular anomalies 11.6
50 darier-white disease 11.6

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

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, icterus, nausea and vomiting, pain, pelvic pain, pruritus, sciatica, syncope, polydipsia, chronic pain, muscle weakness, petechiae of skin, vertigo/dizziness, bloody nipple discharge, gastrointestinal gas, blood in stool, symptoms, easy bleeding

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

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:

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

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
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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