BDPLT24
MCID: BLD174
MIFTS: 17

Bleeding Disorder, Platelet-Type, 24 (BDPLT24)

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

Aliases & Classifications for Bleeding Disorder, Platelet-Type, 24

MalaCards integrated aliases for Bleeding Disorder, Platelet-Type, 24:

Name: Bleeding Disorder, Platelet-Type, 24 57 6
Glanzmann Thrombasthenia-Like with Macrothrombocytopenia 2 57
Bleeding Disorder, Platelet-Type, 24, Autosomal Dominant 57
Bdplt24 57

Classifications:



External Ids:

OMIM® 57 619271
OMIM Phenotypic Series 57 PS231200

Summaries for Bleeding Disorder, Platelet-Type, 24

OMIM® : 57 Platelet-type bleeding disorder-24 (BDPLT24) 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). For a discussion of genetic heterogeneity of Glanzmann thrombasthenia-like with macrothrombocytopenia, see 187800. (619271) (Updated 20-May-2021)

MalaCards based summary : Bleeding Disorder, Platelet-Type, 24, also known as glanzmann thrombasthenia-like with macrothrombocytopenia 2, is related to glanzmann thrombasthenia 2 and thrombasthenia. An important gene associated with Bleeding Disorder, Platelet-Type, 24 is ITGB3 (Integrin Subunit Beta 3).

Related Diseases for Bleeding Disorder, Platelet-Type, 24

Graphical network of the top 20 diseases related to Bleeding Disorder, Platelet-Type, 24:



Diseases related to Bleeding Disorder, Platelet-Type, 24

Symptoms & Phenotypes for Bleeding Disorder, Platelet-Type, 24

Clinical features from OMIM®:

619271 (Updated 20-May-2021)

Drugs & Therapeutics for Bleeding Disorder, Platelet-Type, 24

Search Clinical Trials , NIH Clinical Center for Bleeding Disorder, Platelet-Type, 24

Genetic Tests for Bleeding Disorder, Platelet-Type, 24

Anatomical Context for Bleeding Disorder, Platelet-Type, 24

Publications for Bleeding Disorder, Platelet-Type, 24

Articles related to Bleeding Disorder, Platelet-Type, 24:

# Title Authors PMID Year
1
Identification of the integrin β3 L718P mutation in a pedigree with autosomal dominant thrombocytopenia with anisocytosis. 57 6
23253071 2013
2
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. 57 6
20081061 2010
3
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. 57 6
19336737 2009
4
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. 6 57
18065693 2008
5
Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. 57
22102273 2011
6
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 57
21454453 2011

Variations for Bleeding Disorder, Platelet-Type, 24

ClinVar genetic disease variations for Bleeding Disorder, Platelet-Type, 24:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFCAB13-DT , ITGB3 NM_000212.2(ITGB3):c.2245G>C (p.Asp749His) SNV Pathogenic 50227 rs398122372 GRCh37: 17:45384947-45384947
GRCh38: 17:47307581-47307581
2 ITGB3 NM_000212.2(ITGB3):c.2134+1G>C SNV Pathogenic 50228 rs398122373 GRCh37: 17:45380207-45380207
GRCh38: 17:47302841-47302841
3 EFCAB13-DT , ITGB3 NM_000212.2(ITGB3):c.2231T>C (p.Leu744Pro) SNV Pathogenic 50229 rs398122374 GRCh37: 17:45384933-45384933
GRCh38: 17:47307567-47307567

Expression for Bleeding Disorder, Platelet-Type, 24

Search GEO for disease gene expression data for Bleeding Disorder, Platelet-Type, 24.

Pathways for Bleeding Disorder, Platelet-Type, 24

GO Terms for Bleeding Disorder, Platelet-Type, 24

Sources for Bleeding Disorder, Platelet-Type, 24

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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