MCID: BLD122
MIFTS: 33

Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

Categories: Genetic diseases, Blood diseases, Rare diseases

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

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

Name: Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 54 13
Autosomal Dominant Thrombasthenia of Glanzmann and Naegeli 12 71
Autosomal Dominant Glanzmann Thrombasthenia 12 71
Platelet-Type Bleeding Disorder 16 12 29
Glanzmann Thrombasthenia, Autosomal Dominant 69
Bleeding Disorder, Platelet-Type 16 71
Bdplt16 71

Characteristics:

OMIM:

54
Miscellaneous:
some patients show no bleeding abnormalities

Inheritance:
autosomal dominant


HPO:

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


Classifications:



External Ids:

OMIM 54 187800
Disease Ontology 12 DOID:0060691
ICD10 33 D69.4
MedGen 40 C1861195

Summaries for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

OMIM : 54
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, Autosomal Dominant, also known as autosomal dominant thrombasthenia of glanzmann and naegeli, is related to atrial fibrillation, familial, 18 and fetal hydantoin syndrome, and has symptoms including anemia, petechiae and giant platelets. An important gene associated with Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant is ITGB3 (Integrin Subunit Beta 3), and among its related pathways/superpathways are Development Angiotensin activation of ERK and MAPK-Erk Pathway.

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 : 71 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, Autosomal Dominant

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



Diseases related to Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

Symptoms via clinical synopsis from OMIM:

54

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


Clinical features from OMIM:

187800

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

32
id Description HPO Frequency HPO Source Accession
1 anemia 32 HP:0001903
2 petechiae 32 HP:0000967
3 giant platelets 32 HP:0001902
4 impaired platelet aggregation 32 HP:0003540
5 macrothrombocytopenia 32 HP:0040185

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

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

Genetic Tests for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

id Genetic test Affiliating Genes
1 Platelet-Type Bleeding Disorder 16 29

Anatomical Context for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

Publications for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

Variations for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

71
id Symbol AA change Variation ID SNP ID
1 ITGA2B p.Arg1026Gln VAR_030468 rs879255514
2 ITGA2B p.Arg1026Trp VAR_069919
3 ITGB3 p.Asp749His VAR_069924 rs398122372

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

6
id 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.2134+1G> C single nucleotide variant Pathogenic rs398122373 GRCh37 Chromosome 17, 45380207: 45380207
3 ITGB3 NM_000212.2(ITGB3): c.2231T> C (p.Leu744Pro) single nucleotide variant Pathogenic rs398122374 GRCh37 Chromosome 17, 45384933: 45384933
4 ITGA2B NM_000419.4(ITGA2B): c.3077G> A (p.Arg1026Gln) single nucleotide variant Pathogenic rs879255514 GRCh37 Chromosome 17, 42449775: 42449775
5 ITGA2B NM_000419.4(ITGA2B): c.3076C> T (p.Arg1026Trp) single nucleotide variant Pathogenic rs766503255 GRCh37 Chromosome 17, 42449776: 42449776

Expression for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

Pathways for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

(show all 27)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.38 ITGA2B ITGB3
2
Show member pathways
12.35 ITGA2B ITGB3
3
Show member pathways
12.33 ITGA2B ITGB3
4
Show member pathways
12.27 ITGA2B ITGB3
5
Show member pathways
12.25 ITGA2B ITGB3
6 12.17 ITGA2B ITGB3
7
Show member pathways
11.99 ITGA2B ITGB3
8
Show member pathways
11.88 ITGA2B ITGB3
9
Show member pathways
11.81 ITGA2B ITGB3
10
Show member pathways
11.74 ITGA2B ITGB3
11 11.69 ITGA2B ITGB3
12
Show member pathways
11.67 ITGA2B ITGB3
13
Show member pathways
11.62 ITGA2B ITGB3
14 11.6 ITGA2B ITGB3
15 11.56 ITGA2B ITGB3
16 11.56 ITGA2B ITGB3
17
Show member pathways
11.47 ITGA2B ITGB3
18 11.44 ITGA2B ITGB3
19 11.36 ITGA2B ITGB3
20 11.29 ITGA2B ITGB3
21 11.16 ITGA2B ITGB3
22 11.08 ITGA2B ITGB3
23 11.02 ITGA2B ITGB3
24 10.94 ITGA2B ITGB3
25 10.69 ITGA2B ITGB3
26 10.39 ITGA2B ITGB3
27 9.95 ITGA2B ITGB3

GO Terms for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

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

id 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, Autosomal Dominant according to GeneCards Suite gene sharing:

id 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, Autosomal Dominant according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 8.62 ITGA2B ITGB3

Sources for Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....