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
Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 57 29 13
Platelet-Type Bleeding Disorder 16 12 29 6
Autosomal Dominant Thrombasthenia of Glanzmann and Naegeli 12 74
Glanzmann Thrombasthenia, Autosomal Dominant 57 72
Autosomal Dominant Glanzmann Thrombasthenia 12 74
Bdplt16 57 74
Thrombasthenia of Glanzmann and Naegeli, Autosomal Dominant 57
Bleeding Disorder, Platelet-Type 16 74
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:

Disease Ontology 12 DOID:0060691
ICD10 33 D69.4
MedGen 42 C1861195
UMLS 72 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 bleeding disorder, platelet-type, 16, autosomal dominant, 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. 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 : 74 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, 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
Bleeding Disorder, Platelet-Type, 22

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 9.8 ITGB3 ITGA2B
2 thrombocytopenia 9.8 ITGB3 ITGA2B
3 autosomal dominant macrothrombocytopenia 9.8 ITGB3 ITGA2B
4 thrombocytopenia due to platelet alloimmunization 9.7 ITGB3 ITGA2B
5 primary thrombocytopenia 9.7 ITGB3 ITGA2B
6 inherited blood coagulation disease 9.7 ITGB3 ITGA2B
7 blood coagulation disease 9.7 ITGB3 ITGA2B
8 autoimmune disease of blood 9.7 ITGB3 ITGA2B
9 von willebrand disease, type 2 9.7 ITGB3 ITGA2B
10 thrombasthenia 9.7 ITGB3 ITGA2B
11 thrombocytopenic purpura, autoimmune 9.6 ITGB3 ITGA2B
12 purpura 9.6 ITGB3 ITGA2B
13 blood platelet disease 9.6 ITGB3 ITGA2B
14 glanzmann thrombasthenia 9.5 ITGB3 ITGA2B
15 bernard-soulier syndrome 9.5 ITGB3 ITGA2B
16 essential thrombocythemia 9.4 ITGB3 ITGA2B
17 myocardial infarction 9.2 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

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

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 giant platelets 32 very rare (1%) HP:0001902
2 macrothrombocytopenia 32 very rare (1%) HP:0040185
3 platelet anisocytosis 32 very rare (1%) HP:0032438
4 anemia 32 HP:0001903
5 petechiae 32 HP:0000967
6 impaired platelet aggregation 32 HP:0003540

Symptoms via clinical synopsis from OMIM:

57
Hematology:
macrothrombocytopenia
platelet anisocytosis
bleeding tendency, mild, mucocutaneous
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 29 ITGA2B ITGB3
2 Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 29

Anatomical Context for Bleeding Disorder, Platelet-Type, 16

Publications for Bleeding Disorder, Platelet-Type, 16

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

# Title Authors PMID Year
1
Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. 8 71
23253071 2013
2
Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. 8 71
22102273 2011
3
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 8 71
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. 8 71
20081061 2010
5
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. 8 71
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. 8 71
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. 8 71
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. 8 71
1638023 1992
9
Glanzmann thrombasthenia: deficient binding of von Willebrand factor to thrombin-stimulated platelets. 8
6310559 1982
10
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. 8
4537881 1972

Variations for Bleeding Disorder, Platelet-Type, 16

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

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

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

74
# 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

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 ITGB3 ITGA2B
2
Show member pathways
12.36 ITGB3 ITGA2B
3
Show member pathways
12.35 ITGB3 ITGA2B
4
Show member pathways
12.3 ITGB3 ITGA2B
5
Show member pathways
12.28 ITGB3 ITGA2B
6 12.2 ITGB3 ITGA2B
7
Show member pathways
11.95 ITGB3 ITGA2B
8
Show member pathways
11.91 ITGB3 ITGA2B
9
Show member pathways
11.85 ITGB3 ITGA2B
10
Show member pathways
11.81 ITGB3 ITGA2B
11
Show member pathways
11.8 ITGB3 ITGA2B
12
Show member pathways
11.77 ITGB3 ITGA2B
13
Show member pathways
11.77 ITGB3 ITGA2B
14 11.75 ITGB3 ITGA2B
15 11.69 ITGB3 ITGA2B
16
Show member pathways
11.67 ITGB3 ITGA2B
17
Show member pathways
11.62 ITGB3 ITGA2B
18 11.6 ITGB3 ITGA2B
19 11.57 ITGB3 ITGA2B
20 11.56 ITGB3 ITGA2B
21
Show member pathways
11.47 ITGB3 ITGA2B
22 11.44 ITGB3 ITGA2B
23 11.36 ITGB3 ITGA2B
24 11.32 ITGB3 ITGA2B
25 11.24 ITGB3 ITGA2B
26 11.16 ITGB3 ITGA2B
27 11.14 ITGB3 ITGA2B
28 11.08 ITGB3 ITGA2B
29 11.02 ITGB3 ITGA2B
30 11 ITGB3 ITGA2B
31 10.94 ITGB3 ITGA2B
32 10.69 ITGB3 ITGA2B
33 10.56 ITGB3 ITGA2B
34 10.39 ITGB3 ITGA2B
35 9.95 ITGB3 ITGA2B

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 ITGB3 ITGA2B
2 integrin complex GO:0008305 8.96 ITGB3 ITGA2B
3 platelet alpha granule membrane GO:0031092 8.62 ITGB3 ITGA2B

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 ITGB3 ITGA2B
2 platelet degranulation GO:0002576 9.26 ITGB3 ITGA2B
3 integrin-mediated signaling pathway GO:0007229 9.16 ITGB3 ITGA2B
4 cell-matrix adhesion GO:0007160 8.96 ITGB3 ITGA2B
5 platelet aggregation GO:0070527 8.62 ITGB3 ITGA2B

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 ITGB3 ITGA2B
2 fibrinogen binding GO:0070051 8.62 ITGB3 ITGA2B

Sources for Bleeding Disorder, Platelet-Type, 16

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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