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
Data Licensing
For inquiries, contact:

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

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

Name: Bleeding Disorder, Platelet-Type, 16 57 73
Platelet-Type Bleeding Disorder 16 11 28 5
Glanzmann Thrombasthenia-Like with Macrothrombocytopenia 1 57 73
Bdplt16 57 73
Autosomal Dominant Thrombasthenia of Glanzmann and Naegeli 11
Bleeding Disorder, Platelet-Type, 16, Autosomal Dominant 57
Glanzmann Thrombasthenia, Autosomal Dominant 71
Autosomal Dominant Glanzmann Thrombasthenia 11
Bleeding Disorder, Platelet Type 16 38

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
some patients show no bleeding abnormalities


Classifications:



External Ids:

Disease Ontology 11 DOID:0060691
OMIM® 57 187800
OMIM Phenotypic Series 57 PS231200
ICD10 31 D69.4
UMLS 71 C1861195

Summaries for Bleeding Disorder, Platelet-Type, 16

OMIM®: 57 Platelet-type bleeding disorder-16 (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) (Updated 24-Oct-2022)

MalaCards based summary: Bleeding Disorder, Platelet-Type, 16, also known as platelet-type bleeding disorder 16, is related to glanzmann thrombasthenia 2 and bleeding disorder, platelet-type, 24. An important gene associated with Bleeding Disorder, Platelet-Type, 16 is ITGA2B (Integrin Subunit Alpha 2b), and among its related pathways/superpathways are Complement cascade and Autophagy pathway. Affiliated tissues include bone marrow, bone and blood and bone marrow, and related phenotypes are macrothrombocytopenia and giant platelets

Disease Ontology: 11 A blood platelet 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: 73 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 Bleeding Disorder, Platelet-Type, 24

Diseases related to Bleeding Disorder, Platelet-Type, 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 28)
# Related Disease Score Top Affiliating Genes
1 glanzmann thrombasthenia 2 9.8 ITGB3 EFCAB13-DT
2 bleeding disorder, platelet-type, 24 9.8 ITGB3 EFCAB13-DT
3 fetal and neonatal alloimmune thrombocytopenia 9.8 ITGB3 ITGA2B
4 autosomal dominant macrothrombocytopenia 9.8 ITGB3 ITGA2B
5 malignant gastric germ cell tumor 9.8 ITGB3 ITGA2B
6 heparin-induced thrombocytopenia 9.8 ITGB3 ITGA2B
7 gastric teratoma 9.8 ITGB3 ITGA2B
8 acquired thrombocytopenia 9.7 ITGB3 ITGA2B
9 bleeding disorder, platelet-type, 18 9.7 ITGB3 ITGA2B
10 primary thrombocytopenia 9.7 ITGB3 ITGA2B
11 myeloproliferative syndrome, transient 9.7 ITGB3 ITGA2B
12 coronary thrombosis 9.7 ITGB3 ITGA2B
13 thrombosis 9.7 ITGB3 ITGA2B
14 thrombocytopenia due to platelet alloimmunization 9.7 ITGB3 ITGA2B
15 myelitis 9.7 ITGB3 ITGA2B
16 thrombocytopenic purpura, autoimmune 9.7 ITGB3 ITGA2B
17 purpura 9.7 ITGB3 ITGA2B
18 blood coagulation disease 9.7 ITGB3 ITGA2B
19 acute megakaryocytic leukemia 9.7 ITGB3 ITGA2B
20 bernard-soulier syndrome 9.7 ITGB3 ITGA2B
21 blood platelet disease 9.6 ITGB3 ITGA2B
22 erythroleukemia 9.6 ITGB3 ITGA2B
23 essential thrombocythemia 9.6 ITGB3 ITGA2B
24 arteriosclerosis 9.5 ITGB3 ITGA2B
25 thrombasthenia 9.5 ITGB3 ITGA2B EFCAB13-DT
26 glanzmann thrombasthenia 1 9.5 ITGB3 ITGA2B EFCAB13-DT
27 thrombocytopenia 9.5 ITGB3 ITGA2B EFCAB13-DT
28 arrhythmogenic right ventricular cardiomyopathy 9.4 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:

30 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrothrombocytopenia 30 Very rare (1%) HP:0040185
2 giant platelets 30 Very rare (1%) HP:0001902
3 platelet anisocytosis 30 Very rare (1%) HP:0032438
4 anemia 30 HP:0001903
5 petechiae 30 HP:0000967
6 impaired platelet aggregation 30 HP:0003540

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Hematology:
macrothrombocytopenia
platelet anisocytosis
bleeding tendency, mild, mucocutaneous
variable platelet functional defects

Clinical features from OMIM®:

187800 (Updated 24-Oct-2022)

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 28 ITGA2B

Anatomical Context for Bleeding Disorder, Platelet-Type, 16

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

MalaCards : Bone Marrow, Bone
ODiseA: Blood And Bone Marrow

Publications for Bleeding Disorder, Platelet-Type, 16

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

# Title Authors PMID Year
1
Glanzmann thrombasthenia-like syndromes associated with Macrothrombocytopenias and mutations in the genes encoding the αIIbβ3 integrin. 57 5
22102273 2011
2
Heterozygous ITGA2B R995W mutation inducing constitutive activation of the αIIbβ3 receptor affects proplatelet formation and causes congenital macrothrombocytopenia. 57 5
21454453 2011
3
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. 57 5
9834222 1998
4
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. 57 5
1638023 1992
5
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
6
Familial association of thrombopathia and antihemophilic factor (AHF, factor VIII) deficiency. 57
4537881 1972

Variations for Bleeding Disorder, Platelet-Type, 16

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

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ITGA2B NM_000419.5(ITGA2B):c.3077G>A (p.Arg1026Gln) SNV Pathogenic
50232 rs879255514 GRCh37: 17:42449775-42449775
GRCh38: 17:44372407-44372407
2 ITGA2B NM_000419.5(ITGA2B):c.2929C>T (p.Arg977Ter) SNV Pathogenic
953019 rs79657230 GRCh37: 17:42452041-42452041
GRCh38: 17:44374673-44374673
3 ITGB3 NM_000212.3(ITGB3):c.709_710del (p.Ser237fs) MICROSAT Pathogenic
996178 rs746626039 GRCh37: 17:45363718-45363719
GRCh38: 17:47286352-47286353
4 EFCAB13-DT, ITGB3 NM_000212.3(ITGB3):c.2248C>T (p.Arg750Ter) SNV Pathogenic
13564 rs121918450 GRCh37: 17:45384950-45384950
GRCh38: 17:47307584-47307584
5 ITGA2B NM_000419.5(ITGA2B):c.3092_3093dup (p.Glu1032fs) DUP Pathogenic
953020 rs2048504826 GRCh37: 17:42449758-42449759
GRCh38: 17:44372390-44372391
6 ITGB3 NM_000212.3(ITGB3):c.992A>G (p.Asn331Ser) SNV Pathogenic
1684352 GRCh37: 17:45367099-45367099
GRCh38: 17:47289733-47289733
7 ITGA2B NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) SNV Pathogenic
50233 rs766503255 GRCh37: 17:42449776-42449776
GRCh38: 17:44372408-44372408
8 ITGA2B NM_000419.5(ITGA2B):c.1772A>C (p.Asp591Ala) SNV Likely Pathogenic
627020 rs778608263 GRCh37: 17:42457163-42457163
GRCh38: 17:44379795-44379795
9 ITGB3 NM_000212.3(ITGB3):c.719G>A (p.Arg240Gln) SNV Likely Pathogenic
13553 rs121918444 GRCh37: 17:45363730-45363730
GRCh38: 17:47286364-47286364
10 ITGB3 NM_000212.3(ITGB3):c.1699C>T (p.Gln567Ter) SNV Likely Pathogenic
374015 rs1057518837 GRCh37: 17:45376682-45376682
GRCh38: 17:47299316-47299316
11 ITGB3 NM_000212.3(ITGB3):c.749A>G (p.Asp250Gly) SNV Likely Pathogenic
374016 rs1057518838 GRCh37: 17:45363760-45363760
GRCh38: 17:47286394-47286394
12 ITGA2B NM_000419.5(ITGA2B):c.1142C>T (p.Thr381Ile) SNV Uncertain Significance
1030779 rs2048614738 GRCh37: 17:42460929-42460929
GRCh38: 17:44383561-44383561
13 ITGA2B NM_000419.5(ITGA2B):c.1752+5G>A SNV Uncertain Significance
1030780 rs530915748 GRCh37: 17:42457365-42457365
GRCh38: 17:44379997-44379997
14 ITGA2B NM_000419.5(ITGA2B):c.1879-14A>G SNV Uncertain Significance
1684323 GRCh37: 17:42456092-42456092
GRCh38: 17:44378724-44378724
15 ITGA2B NM_000419.5(ITGA2B):c.2982del (p.Ile995fs) DEL Uncertain Significance
1695976 GRCh37: 17:42451800-42451800
GRCh38: 17:44374432-44374432
16 ITGA2B NM_000419.5(ITGA2B):c.580G>A (p.Asp194Asn) SNV Uncertain Significance
1697247 GRCh37: 17:42462698-42462698
GRCh38: 17:44385330-44385330
17 ITGA2B NM_000419.5(ITGA2B):c.3020G>T (p.Gly1007Val) SNV Uncertain Significance
1697251 GRCh37: 17:42451762-42451762
GRCh38: 17:44374394-44374394
18 ITGA2B NM_000419.5(ITGA2B):c.2198C>T (p.Ala733Val) SNV Uncertain Significance
1698808 GRCh37: 17:42454446-42454446
GRCh38: 17:44377078-44377078
19 ITGB3 NM_000212.3(ITGB3):c.1960G>A (p.Glu654Lys) SNV Uncertain Significance
225395 rs70940817 GRCh37: 17:45377890-45377890
GRCh38: 17:47300524-47300524
20 ITGA2B NM_000419.5(ITGA2B):c.1558A>C (p.Met520Leu) SNV Uncertain Significance
1703871 GRCh37: 17:42457656-42457656
GRCh38: 17:44380288-44380288
21 ITGA2B NM_000419.5(ITGA2B):c.590A>G (p.Tyr197Cys) SNV Uncertain Significance
1339143 GRCh37: 17:42462688-42462688
GRCh38: 17:44385320-44385320
22 ITGA2B NM_000419.5(ITGA2B):c.2965G>A (p.Ala989Thr) SNV Uncertain Significance
417951 rs78165611 GRCh37: 17:42451817-42451817
GRCh38: 17:44374449-44374449
23 ITGA2B NM_000419.5(ITGA2B):c.1043G>A (p.Arg348Gln) SNV Uncertain Significance
417956 rs1060499614 GRCh37: 17:42461028-42461028
GRCh38: 17:44383660-44383660

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

73
# Symbol AA change Variation ID SNP ID
1 ITGA2B p.Arg1026Gln VAR_030468 rs879255514
2 ITGA2B p.Arg1026Trp VAR_069919 rs766503255

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 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 ITGB3 ITGA2B
2
Show member pathways
12.01 ITGB3 ITGA2B
3 11.87 ITGB3 ITGA2B
4
Show member pathways
11.83 ITGB3 ITGA2B
5
Show member pathways
11.82 ITGB3 ITGA2B
6
Show member pathways
11.77 ITGB3 ITGA2B
7
Show member pathways
11.75 ITGB3 ITGA2B
8
Show member pathways
11.69 ITGB3 ITGA2B
9
Show member pathways
11.61 ITGB3 ITGA2B
10 11.52 ITGB3 ITGA2B
11 11.5 ITGA2B ITGB3
12
Show member pathways
11.42 ITGB3 ITGA2B
13 11.28 ITGB3 ITGA2B
14 11.11 ITGB3 ITGA2B
15 11.11 ITGB3 ITGA2B
16 11.03 ITGB3 ITGA2B
17 10.91 ITGB3 ITGA2B
18 10.82 ITGB3 ITGA2B
19 10.66 ITGB3 ITGA2B
20 10.28 ITGB3 ITGA2B
21 9.88 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 integrin complex GO:0008305 9.26 ITGB3 ITGA2B
2 platelet alpha granule membrane GO:0031092 8.92 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 cell-matrix adhesion GO:0007160 9.46 ITGB3 ITGA2B
2 integrin-mediated signaling pathway GO:0007229 9.26 ITGB3 ITGA2B
3 cell adhesion mediated by integrin GO:0033627 8.92 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 integrin binding GO:0005178 9.26 ITGB3 ITGA2B
2 extracellular matrix binding GO:0050840 8.92 ITGB3 ITGA2B

Sources for Bleeding Disorder, Platelet-Type, 16

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....