MCID: ATS208
MIFTS: 26

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 56

Characteristics:

Orphanet epidemiological data:

56
autosomal dominant macrothrombocytopenia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

Classifications:



External Ids:

Orphanet 56 ORPHA140957
ICD10 via Orphanet 34 D69.4

Summaries for Autosomal Dominant Macrothrombocytopenia

MalaCards based summary : Autosomal Dominant Macrothrombocytopenia is related to sebastian 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 28)
id Related Disease Score Top Affiliating Genes
1 sebastian syndrome 11.2
2 bleeding disorder, platelet-type, 15 11.1
3 bleeding disorder, platelet-type, 17 10.9
4 macrothrombocytopenia, autosomal dominant, tubb1-related 10.9
5 fechtner syndrome 10.8
6 may-hegglin anomaly 10.1
7 catecholaminergic polymorphic ventricular tachycardia 9.9 GP1BA MYH9 TUBB1
8 mental depression 9.9 ITGA2B MYH9
9 monocular exotropia 9.8 GP1BA ITGB3
10 hepatocellular adenoma 9.8 GP1BA ITGB3
11 joint disorders 9.7 GP1BA ITGB3
12 thrombocytopenia-absent radius syndrome 9.6 ACTN1 GP1BA
13 atrial fibrillation, familial, 18 9.6 ITGA2B ITGB3
14 c1 inhibitor deficiency 9.6 GP1BA ITGB3
15 autonomic peripheral neuropathy 9.6 ITGA2B ITGB3
16 perichondritis of auricle 9.4 ITGA2B ITGB3
17 essential thrombocythemia 9.2 GP1BA ITGA2B ITGB3
18 thrombocytopenic purpura, autoimmune 9.2 GP1BA ITGA2B ITGB3
19 thrombomodulin anomalies, familial 9.1 GP1BA ITGA2B ITGB3
20 bleeding disorder, platelet-type, 16, autosomal dominant 9.1 GP1BA ITGA2B ITGB3
21 partial sensory epilepsy 9.1 GP1BA ITGA2B ITGB3
22 retromolar area cancer 8.9 GP1BA ITGA2B ITGB3 MYH9
23 fetal hydantoin syndrome 8.8 GP1BA GP1BB ITGA2B ITGB3
24 ocular hyperemia 8.7 GP1BA GP1BB ITGA2B ITGB3
25 immunodeficiency 21 8.4 GP1BA GP1BB ITGA2B ITGB3 MYH9
26 myeloproliferative neoplasm 8.4 GP1BA GP1BB ITGA2B ITGB3 MYH9
27 tracheal cancer 8.4 GP1BA GP1BB ITGA2B ITGB3 MYH9
28 third branchial cleft anomaly 7.1 ACTN1 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:

44
id 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

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Phenotypic and Genotypic Identification and Characterization of MYH9-related Constitutional Thrombocytopenia Completed NCT00925236

Search 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:

id Title Authors Year
1
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. ( 28064200 )
2016
2
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. ( 24069336 )
2013
3
[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders]. ( 19489439 )
2009
4
Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis. ( 12010687 )
2002
5
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
6
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. ( 11222377 )
2001
7
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. ( 11776386 )
2001
8
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ( 11159552 )
2001
9
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. ( 10914687 )
2000
10
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 24)
id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.97 ACTN1 GP1BA GP1BB ITGA2B ITGB3
2
Show member pathways
12.55 ACTN1 ITGA2B ITGB3 MYH9 TUBB1
3
Show member pathways
12.34 ACTN1 ITGB3 MYH9
4
Show member pathways
12.32 ACTN1 ITGB3 MYH9
5 12.27 ACTN1 ITGA2B ITGB3 MYH9
6 12.23 ACTN1 ITGA2B MYH9
7
Show member pathways
12.13 ACTN1 ITGA2B ITGB3
8
Show member pathways
11.73 GP1BA GP1BB ITGA2B ITGB3
9 11.7 GP1BA ITGA2B ITGB3
10 11.55 GP1BA GP1BB ITGA2B ITGB3
11 11.49 ITGB3 MYH9
12
Show member pathways
11.43 ACTN1 ITGB3
13 11.35 ITGA2B ITGB3
14 11.28 ITGA2B ITGB3
15 11.25 ITGA2B ITGB3
16
Show member pathways
11.25 GP1BA GP1BB ITGA2B ITGB3
17 11.21 GP1BB ITGA2B ITGB3
18 11.16 ACTN1 ITGB3
19 11.07 ITGA2B ITGB3
20 10.96 ITGA2B ITGB3
21 10.91 GP1BA GP1BB ITGA2B ITGB3
22 10.83 ITGA2B ITGB3
23 10.59 GP1BA GP1BB
24 10.43 GP1BA GP1BB

GO Terms for Autosomal Dominant Macrothrombocytopenia

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

id 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:

id 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 hemostasis GO:0007599 9.46 GP1BA GP1BB
5 integrin-mediated signaling pathway GO:0007229 9.43 ITGA2B ITGB3 MYH9
6 platelet formation GO:0030220 9.4 ACTN1 MYH9
7 blood coagulation, intrinsic pathway GO:0007597 9.37 GP1BA GP1BB
8 platelet activation GO:0030168 9.26 ACTN1 GP1BA GP1BB ITGB3
9 platelet aggregation GO:0070527 9.02 ACTN1 GP1BA ITGA2B ITGB3 MYH9

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

id Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.43 ACTN1 MYH9 TPM4
2 identical protein binding GO:0042802 9.33 GP1BB ITGA2B ITGB3
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
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
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