MCID: ATS208
MIFTS: 27

Autosomal Dominant Macrothrombocytopenia

Categories: Blood diseases, Rare diseases, Genetic diseases

Aliases & Classifications for Autosomal Dominant Macrothrombocytopenia

MalaCards integrated aliases for Autosomal Dominant Macrothrombocytopenia:

Name: Autosomal Dominant Macrothrombocytopenia 59

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant macrothrombocytopenia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 59 ORPHA140957
ICD10 via Orphanet 34 D69.4

Summaries for Autosomal Dominant Macrothrombocytopenia

MalaCards based summary : Autosomal Dominant Macrothrombocytopenia is related to bernard-soulier syndrome and bleeding disorder, platelet-type, 15. An important gene associated with Autosomal Dominant Macrothrombocytopenia is TUBB1 (Tubulin Beta 1 Class VI), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Sertoli-Sertoli Cell Junction Dynamics. Related phenotype is hematopoietic system.

Related Diseases for Autosomal Dominant Macrothrombocytopenia

Diseases in the Autosomal Dominant Macrothrombocytopenia family:

Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related

Diseases related to Autosomal Dominant Macrothrombocytopenia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 bernard-soulier syndrome 27.5 GP1BA GP1BB ITGA2B ITGB3 MYH9
2 bleeding disorder, platelet-type, 15 11.2
3 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 11.1
4 bleeding disorder, platelet-type, 17 11.0
5 macrothrombocytopenia, autosomal dominant, tubb1-related 11.0
6 thrombocytopenia due to platelet alloimmunization 10.1 ITGA2B MYH9
7 bleeding disorder, platelet-type, 16 9.9 ITGA2B ITGB3
8 autoimmune disease of blood 9.9 ITGA2B ITGB3
9 coronary thrombosis 9.7 GP1BA ITGB3
10 myh-9 related disease 9.7 GP1BA MYH9 TUBB1
11 arteritic anterior ischemic optic neuropathy 9.7 GP1BA ITGB3
12 hemorrhagic disease 9.6 ITGA2B ITGB3 MYH9
13 infective endocarditis 9.6 GP1BA ITGB3
14 ischemic optic neuropathy 9.5 GP1BA ITGB3
15 thrombocytopenia-absent radius syndrome 9.4 ACTN1 GP1BA
16 thrombocytopenic purpura, autoimmune 9.3 GP1BA ITGA2B ITGB3
17 thrombasthenia 9.3 GP1BA ITGA2B ITGB3
18 glanzmann thrombasthenia 9.2 GP1BA ITGA2B ITGB3
19 purpura 9.2 GP1BA ITGA2B ITGB3
20 primary thrombocytopenia 8.9 GP1BA ITGA2B ITGB3 MYH9
21 fetal and neonatal alloimmune thrombocytopenia 8.8 GP1BA GP1BB ITGA2B ITGB3
22 inherited blood coagulation disease 8.8 GP1BA GP1BB ITGA2B ITGB3
23 blood coagulation disease 8.8 GP1BA GP1BB ITGA2B ITGB3
24 blood platelet disease 8.4 GP1BA GP1BB ITGA2B ITGB3 MYH9
25 thrombocytopenia 8.4 GP1BA GP1BB ITGA2B ITGB3 MYH9

Graphical network of the top 20 diseases related to Autosomal Dominant Macrothrombocytopenia:



Diseases related to Autosomal Dominant Macrothrombocytopenia

Symptoms & Phenotypes for Autosomal Dominant Macrothrombocytopenia

MGI Mouse Phenotypes related to Autosomal Dominant Macrothrombocytopenia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.1 GP1BA GP1BB ITGA2B ITGB3 MYH9 TUBB1

Drugs & Therapeutics for Autosomal Dominant Macrothrombocytopenia

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Macrothrombocytopenia

Genetic Tests for Autosomal Dominant Macrothrombocytopenia

Anatomical Context for Autosomal Dominant Macrothrombocytopenia

Publications for Autosomal Dominant Macrothrombocytopenia

Articles related to Autosomal Dominant Macrothrombocytopenia:

(show all 11)
# Title Authors Year
1
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin I+IIbI^3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. ( 29380037 )
2018
2
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. ( 28064200 )
2016
3
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. ( 24069336 )
2013
4
[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders]. ( 19489439 )
2009
5
Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis. ( 12010687 )
2002
6
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. ( 11222377 )
2001
7
Nonmuscle myosin heavy chain IIA mutations define a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly and Fechtner, Sebastian, Epstein, and Alport-like syndromes. ( 11590545 )
2001
8
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
2001
9
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. ( 11776386 )
2001
10
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. ( 10914687 )
2000
11
Platelet kinetics in autosomal dominant macrothrombocytopenia. ( 9626983 )
1998

Variations for Autosomal Dominant Macrothrombocytopenia

Expression for Autosomal Dominant Macrothrombocytopenia

Search GEO for disease gene expression data for Autosomal Dominant Macrothrombocytopenia.

Pathways for Autosomal Dominant Macrothrombocytopenia

Pathways related to Autosomal Dominant Macrothrombocytopenia according to GeneCards Suite gene sharing:

(show all 26)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ACTN1 GP1BA GP1BB ITGA2B ITGB3
2
Show member pathways
12.5 ACTN1 ITGA2B ITGB3 MYH9 TUBB1
3
Show member pathways
12.36 ACTN1 ITGB3 MYH9
4
Show member pathways
12.32 ACTN1 ITGB3 MYH9
5 12.26 ACTN1 ITGA2B ITGB3 MYH9
6 12.25 ACTN1 ITGA2B MYH9
7
Show member pathways
12.15 ACTN1 ITGA2B ITGB3
8
Show member pathways
11.92 ITGA2B ITGB3 TPM4
9
Show member pathways
11.73 GP1BA GP1BB ITGA2B ITGB3
10 11.7 GP1BA ITGA2B ITGB3
11 11.55 GP1BA GP1BB ITGA2B ITGB3
12 11.5 ITGB3 MYH9
13
Show member pathways
11.44 ACTN1 ITGB3
14 11.37 ITGA2B ITGB3
15 11.3 ITGA2B ITGB3
16 11.27 ITGA2B ITGB3
17 11.26 ITGA2B ITGB3 MYH9
18 11.25 GP1BB ITGA2B ITGB3
19
Show member pathways
11.25 GP1BA GP1BB ITGA2B ITGB3
20 11.18 ACTN1 ITGB3
21 11.09 ITGA2B ITGB3
22 10.98 ITGA2B ITGB3
23 10.91 GP1BA GP1BB ITGA2B ITGB3
24 10.85 ITGA2B ITGB3
25 10.59 GP1BA GP1BB
26 10.43 GP1BA GP1BB

GO Terms for Autosomal Dominant Macrothrombocytopenia

Cellular components related to Autosomal Dominant Macrothrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.8 ACTN1 GP1BA ITGA2B ITGB3 MYH9 TPM4
2 actin filament GO:0005884 9.43 ACTN1 TPM4
3 brush border GO:0005903 9.4 ACTN1 MYH9
4 cortical cytoskeleton GO:0030863 9.37 MYH9 TPM4
5 stress fiber GO:0001725 9.33 ACTN1 MYH9 TPM4
6 platelet alpha granule membrane GO:0031092 9.32 ITGA2B ITGB3
7 integrin complex GO:0008305 9.13 ITGA2B ITGB3 MYH9
8 focal adhesion GO:0005925 9.02 ACTN1 ITGA2B ITGB3 MYH9 TPM4

Biological processes related to Autosomal Dominant Macrothrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 9.61 GP1BA GP1BB ITGB3
2 cell adhesion GO:0007155 9.55 GP1BA GP1BB ITGA2B ITGB3 MYH9
3 platelet degranulation GO:0002576 9.5 ACTN1 ITGA2B ITGB3
4 regulation of megakaryocyte differentiation GO:0045652 9.48 GP1BA ITGA2B
5 hemostasis GO:0007599 9.46 GP1BA GP1BB
6 integrin-mediated signaling pathway GO:0007229 9.43 ITGA2B ITGB3 MYH9
7 platelet formation GO:0030220 9.4 ACTN1 MYH9
8 blood coagulation, intrinsic pathway GO:0007597 9.37 GP1BA GP1BB
9 platelet activation GO:0030168 9.26 ACTN1 GP1BA GP1BB ITGB3
10 platelet aggregation GO:0070527 9.02 ACTN1 GP1BA ITGA2B ITGB3 MYH9

Molecular functions related to Autosomal Dominant Macrothrombocytopenia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.56 GP1BB ITGA2B ITGB3 TPM4
2 actin binding GO:0003779 9.33 ACTN1 MYH9 TPM4
3 extracellular matrix binding GO:0050840 8.96 ITGA2B ITGB3
4 actin filament binding GO:0051015 8.8 ACTN1 MYH9 TPM4

Sources for Autosomal Dominant Macrothrombocytopenia

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
Content
Loading form....