BDPLT16
MCID: BLD152
MIFTS: 36

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 57
Platelet-Type Bleeding Disorder 16 12 29 6
Autosomal Dominant Thrombasthenia of Glanzmann and Naegeli 12 75
Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 57 13
Glanzmann Thrombasthenia, Autosomal Dominant 57 73
Autosomal Dominant Glanzmann Thrombasthenia 12 75
Bdplt16 57 75
Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant 57
Bleeding Disorder, Platelet-Type 16 75
Bleeding Disorder, Platelet Type 16 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
some patients show no bleeding abnormalities


HPO:

32
bleeding disorder, platelet-type, 16:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 187800
Disease Ontology 12 DOID:0060691
ICD10 33 D69.4
MedGen 42 C1861195
UMLS 73 C1861195

Summaries for Bleeding Disorder, Platelet-Type, 16

OMIM : 57 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 anemia and petechiae

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 : 75 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:

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

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

Symptoms via clinical synopsis from OMIM:

57
Hematology:
macrothrombocytopenia
bleeding tendency, mild, mucocutaneous
platelet anisocytosis
variable platelet functional defects


Clinical features from OMIM:

187800

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 petechiae 32 HP:0000967
3 anisocytosis 32 HP:0011273
4 giant platelets 32 HP:0001902
5 macrothrombocytopenia 32 HP:0040185
6 impaired platelet aggregation 32 HP:0003540

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 29 ITGA2B ITGB3

Anatomical Context for Bleeding Disorder, Platelet-Type, 16

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

41
Bone

Publications for Bleeding Disorder, Platelet-Type, 16

Variations for Bleeding Disorder, Platelet-Type, 16

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

75
# 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 (show all 16)
# 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:

(show all 35)
# 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
11.82 ITGA2B ITGB3
11
Show member pathways
11.8 ITGA2B ITGB3
12
Show member pathways
11.77 ITGA2B ITGB3
13 11.75 ITGA2B ITGB3
14
Show member pathways
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:

# 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:

# 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:

# 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 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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