BDPLT16
MCID: BLD152
MIFTS: 37

Bleeding Disorder, Platelet-Type, 16 (BDPLT16)

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 16

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 16:

Name: Bleeding Disorder, Platelet-Type, 16 58
Platelet-Type Bleeding Disorder 16 12 30 6
Autosomal Dominant Thrombasthenia of Glanzmann and Naegeli 12 76
Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 58 13
Glanzmann Thrombasthenia, Autosomal Dominant 58 74
Autosomal Dominant Glanzmann Thrombasthenia 12 76
Bdplt16 58 76
Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant 58
Bleeding Disorder, Platelet-Type 16 76
Bleeding Disorder, Platelet Type 16 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
some patients show no bleeding abnormalities


HPO:

33
bleeding disorder, platelet-type, 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060691
OMIM 58 187800
ICD10 34 D69.4
MedGen 43 C1861195
UMLS 74 C1861195

Summaries for Bleeding Disorder, Platelet-Type, 16

OMIM : 58 BDPLT16 is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011). (187800)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 16, also known as platelet-type bleeding disorder 16, is related to fetal and neonatal alloimmune thrombocytopenia and thrombocytopenia. An important gene associated with Bleeding Disorder, Platelet-Type, 16 is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are NFAT and Cardiac Hypertrophy and MAPK-Erk Pathway. Affiliated tissues include bone, and related phenotypes are giant platelets and macrothrombocytopenia

Disease Ontology : 12 An inherited blood coagulation disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has material basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32.

UniProtKB/Swiss-Prot : 76 Bleeding disorder, platelet-type 16: An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities.

Related Diseases for Bleeding Disorder, Platelet-Type, 16

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, 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 17, show less)
# Related Disease Score Top Affiliating Genes
1 fetal and neonatal alloimmune thrombocytopenia 9.9 ITGA2B ITGB3
2 thrombocytopenia 9.9 ITGA2B ITGB3
3 autosomal dominant macrothrombocytopenia 9.8 ITGA2B ITGB3
4 thrombocytopenia due to platelet alloimmunization 9.8 ITGA2B ITGB3
5 inherited blood coagulation disease 9.8 ITGA2B ITGB3
6 blood coagulation disease 9.8 ITGA2B ITGB3
7 primary thrombocytopenia 9.8 ITGA2B ITGB3
8 autoimmune disease of blood 9.8 ITGA2B ITGB3
9 von willebrand disease, type 2 9.8 ITGA2B ITGB3
10 thrombasthenia 9.8 ITGA2B ITGB3
11 thrombocytopenic purpura, autoimmune 9.8 ITGA2B ITGB3
12 purpura 9.8 ITGA2B ITGB3
13 glanzmann thrombasthenia 9.7 ITGA2B ITGB3
14 blood platelet disease 9.7 ITGA2B ITGB3
15 bernard-soulier syndrome 9.7 ITGA2B ITGB3
16 essential thrombocythemia 9.6 ITGA2B ITGB3
17 myocardial infarction 9.5 ITGA2B ITGB3

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 16:



Diseases related to Bleeding Disorder, Platelet-Type, 16

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 16

Human phenotypes related to Bleeding Disorder, Platelet-Type, 16:

33 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 giant platelets 33 very rare (1%) HP:0001902
2 macrothrombocytopenia 33 very rare (1%) HP:0040185
3 anemia 33 HP:0001903
4 petechiae 33 HP:0000967
5 impaired platelet aggregation 33 HP:0003540

Symptoms via clinical synopsis from OMIM:

58
Hematology:
macrothrombocytopenia
bleeding tendency, mild, mucocutaneous
platelet anisocytosis
variable platelet functional defects

Clinical features from OMIM:

187800

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 16

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 16

Genetic Tests for Bleeding Disorder, Platelet-Type, 16

Genetic tests related to Bleeding Disorder, Platelet-Type, 16:

# Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 16 30 ITGA2B ITGB3

Anatomical Context for Bleeding Disorder, Platelet-Type, 16

MalaCards organs/tissues related to Bleeding Disorder, Platelet-Type, 16:

42
Bone

Publications for Bleeding Disorder, Platelet-Type, 16

Articles related to Bleeding Disorder, Platelet-Type, 16:

(showing 8, show less)
# Title Authors Year
1
Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. ( 23253071 )
2013
2
Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. ( 22102273 )
2011
3
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. ( 21454453 )
2011
4
L718P mutation in the membrane-proximal cytoplasmic tail of beta 3 promotes abnormal alpha IIb beta 3 clustering and lipid microdomain coalescence, and associates with a thrombasthenia-like phenotype. ( 20081061 )
2010
5
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. ( 19336737 )
2009
6
A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the alphaIIbbeta3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. ( 18065693 )
2008
7
R to Q amino acid substitution in the GFFKR sequence of the cytoplasmic domain of the integrin IIb subunit in a patient with a Glanzmann's thrombasthenia-like syndrome. ( 9834222 )
1998
8
A defect of platelet aggregation associated with an abnormal distribution of glycoprotein IIb-IIIa complexes within the platelet: the cause of a lifelong bleeding disorder. ( 1638023 )
1992

Variations for Bleeding Disorder, Platelet-Type, 16

UniProtKB/Swiss-Prot genetic disease variations for Bleeding Disorder, Platelet-Type, 16:

76 (showing 3, show less)
# Symbol AA change Variation ID SNP ID
1 ITGA2B p.Arg1026Gln VAR_030468 rs879255514
2 ITGA2B p.Arg1026Trp VAR_069919 rs766503255
3 ITGB3 p.Asp749His VAR_069924 rs398122372

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 16:

6 (showing 16, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 ITGB3 NM_000212.2(ITGB3): c.2245G> C (p.Asp749His) single nucleotide variant Pathogenic rs398122372 GRCh37 Chromosome 17, 45384947: 45384947
2 ITGB3 NM_000212.2(ITGB3): c.2245G> C (p.Asp749His) single nucleotide variant Pathogenic rs398122372 GRCh38 Chromosome 17, 47307581: 47307581
3 ITGB3 NM_000212.2(ITGB3): c.2134+1G> C single nucleotide variant Pathogenic rs398122373 GRCh37 Chromosome 17, 45380207: 45380207
4 ITGB3 NM_000212.2(ITGB3): c.2134+1G> C single nucleotide variant Pathogenic rs398122373 GRCh38 Chromosome 17, 47302841: 47302841
5 ITGB3 NM_000212.2(ITGB3): c.2231T> C (p.Leu744Pro) single nucleotide variant Pathogenic rs398122374 GRCh37 Chromosome 17, 45384933: 45384933
6 ITGB3 NM_000212.2(ITGB3): c.2231T> C (p.Leu744Pro) single nucleotide variant Pathogenic rs398122374 GRCh38 Chromosome 17, 47307567: 47307567
7 ITGA2B NM_000419.4(ITGA2B): c.3077G> A (p.Arg1026Gln) single nucleotide variant Pathogenic rs879255514 GRCh37 Chromosome 17, 42449775: 42449775
8 ITGA2B NM_000419.4(ITGA2B): c.3077G> A (p.Arg1026Gln) single nucleotide variant Pathogenic rs879255514 GRCh38 Chromosome 17, 44372407: 44372407
9 ITGA2B NM_000419.4(ITGA2B): c.3076C> T (p.Arg1026Trp) single nucleotide variant Pathogenic rs766503255 GRCh37 Chromosome 17, 42449776: 42449776
10 ITGA2B NM_000419.4(ITGA2B): c.3076C> T (p.Arg1026Trp) single nucleotide variant Pathogenic rs766503255 GRCh38 Chromosome 17, 44372408: 44372408
11 ITGB3 NM_000212.2(ITGB3): c.1960G> A (p.Glu654Lys) single nucleotide variant Uncertain significance rs70940817 GRCh38 Chromosome 17, 47300524: 47300524
12 ITGB3 NM_000212.2(ITGB3): c.1960G> A (p.Glu654Lys) single nucleotide variant Uncertain significance rs70940817 GRCh37 Chromosome 17, 45377890: 45377890
13 ITGA2B NM_000419.4(ITGA2B): c.2965G> A (p.Ala989Thr) single nucleotide variant Uncertain significance rs78165611 GRCh37 Chromosome 17, 42451817: 42451817
14 ITGA2B NM_000419.4(ITGA2B): c.2965G> A (p.Ala989Thr) single nucleotide variant Uncertain significance rs78165611 GRCh38 Chromosome 17, 44374449: 44374449
15 ITGA2B NM_000419.4(ITGA2B): c.1043G> A (p.Arg348Gln) single nucleotide variant Uncertain significance rs1060499614 GRCh37 Chromosome 17, 42461028: 42461028
16 ITGA2B NM_000419.4(ITGA2B): c.1043G> A (p.Arg348Gln) single nucleotide variant Uncertain significance rs1060499614 GRCh38 Chromosome 17, 44383660: 44383660

Expression for Bleeding Disorder, Platelet-Type, 16

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 16.

Pathways for Bleeding Disorder, Platelet-Type, 16

Pathways related to Bleeding Disorder, Platelet-Type, 16 according to GeneCards Suite gene sharing:

(showing 35, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.4 ITGA2B ITGB3
2
Show member pathways
12.36 ITGA2B ITGB3
3
Show member pathways
12.35 ITGA2B ITGB3
4
Show member pathways
12.3 ITGA2B ITGB3
5
Show member pathways
12.28 ITGA2B ITGB3
6 12.2 ITGA2B ITGB3
7
Show member pathways
12.02 ITGA2B ITGB3
8
Show member pathways
11.95 ITGA2B ITGB3
9
Show member pathways
11.91 ITGA2B ITGB3
10
Show member pathways
11.83 ITGA2B ITGB3
11
Show member pathways
11.8 ITGA2B ITGB3
12
Show member pathways
11.77 ITGA2B ITGB3
13
Show member pathways
11.76 ITGA2B ITGB3
14 11.75 ITGA2B ITGB3
15 11.69 ITGA2B ITGB3
16
Show member pathways
11.67 ITGA2B ITGB3
17
Show member pathways
11.62 ITGA2B ITGB3
18 11.6 ITGA2B ITGB3
19 11.56 ITGA2B ITGB3
20 11.56 ITGA2B ITGB3
21
Show member pathways
11.47 ITGA2B ITGB3
22 11.44 ITGA2B ITGB3
23 11.36 ITGA2B ITGB3
24 11.32 ITGA2B ITGB3
25 11.25 ITGA2B ITGB3
26 11.16 ITGA2B ITGB3
27 11.14 ITGA2B ITGB3
28 11.08 ITGA2B ITGB3
29 11.02 ITGA2B ITGB3
30 11 ITGA2B ITGB3
31 10.94 ITGA2B ITGB3
32 10.69 ITGA2B ITGB3
33 10.56 ITGA2B ITGB3
34 10.39 ITGA2B ITGB3
35 9.95 ITGA2B ITGB3

GO Terms for Bleeding Disorder, Platelet-Type, 16

Cellular components related to Bleeding Disorder, Platelet-Type, 16 according to GeneCards Suite gene sharing:

(showing 3, show less)
# Name GO ID Score Top Affiliating Genes
1 focal adhesion GO:0005925 9.16 ITGA2B ITGB3
2 integrin complex GO:0008305 8.96 ITGA2B ITGB3
3 platelet alpha granule membrane GO:0031092 8.62 ITGA2B ITGB3

Biological processes related to Bleeding Disorder, Platelet-Type, 16 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.32 ITGA2B ITGB3
2 platelet degranulation GO:0002576 9.26 ITGA2B ITGB3
3 cell-matrix adhesion GO:0007160 9.16 ITGA2B ITGB3
4 integrin-mediated signaling pathway GO:0007229 8.96 ITGA2B ITGB3
5 platelet aggregation GO:0070527 8.62 ITGA2B ITGB3

Molecular functions related to Bleeding Disorder, Platelet-Type, 16 according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.96 ITGA2B ITGB3
2 fibrinogen binding GO:0070051 8.62 ITGA2B ITGB3

Sources for Bleeding Disorder, Platelet-Type, 16

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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