MCID: ATS208
MIFTS: 26

Autosomal Dominant Macrothrombocytopenia

Categories: Blood diseases, Genetic diseases, Rare diseases
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Aliases & Classifications for Autosomal Dominant Macrothrombocytopenia

MalaCards integrated aliases for Autosomal Dominant Macrothrombocytopenia:

Name: Autosomal Dominant Macrothrombocytopenia 58

Characteristics:


Inheritance:

Autosomal dominant 58

Prevelance:

<1/1000000 (Worldwide) 58

Classifications:

Orphanet: 58  
Rare haematological diseases


External Ids:

ICD10 via Orphanet 32 D69.4
Orphanet 58 ORPHA140957

Summaries for Autosomal Dominant Macrothrombocytopenia

Orphanet: 58 This syndrome is characterized by congenital thrombocytopenia associated with the presence of large platelets.

MalaCards based summary: Autosomal Dominant Macrothrombocytopenia is related to qualitative platelet defect and bernard-soulier syndrome, type a2, autosomal dominant. An important gene associated with Autosomal Dominant Macrothrombocytopenia is TUBB1 (Tubulin Beta 1 Class VI), and among its related pathways/superpathways are Disease and Sertoli-Sertoli Cell Junction Dynamics. Affiliated tissues include neutrophil and myeloid, and related phenotype is hematopoietic system.

Related Diseases for Autosomal Dominant Macrothrombocytopenia

Diseases in the Autosomal Dominant Macrothrombocytopenia family:

Autosomal Dominant Macrothrombocytopenia Tubb1-Related

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

(show top 50) (show all 53)
# Related Disease Score Top Affiliating Genes
1 qualitative platelet defect 30.3 ITGA2B GP1BA
2 bernard-soulier syndrome, type a2, autosomal dominant 30.0 TUBB1 GP1BA GFI1B
3 thrombasthenia 29.6 ITGB3 ITGA2B GP1BA
4 blood platelet disease 29.6 ITGB3 ITGA2B GP1BB GP1BA
5 thrombocytopenia due to platelet alloimmunization 29.6 ITGB3 ITGA2B GP1BA
6 myh-9 related disease 29.4 TUBB1 GP1BB GP1BA GFI1B ACTN1
7 glanzmann thrombasthenia 1 29.0 TUBB1 ITGB3 ITGA2B GP1BB GP1BA
8 thrombocytopenia 29.0 TUBB1 ITGB3 ITGA2B GP1BB GP1BA GFI1B
9 bernard-soulier syndrome 28.7 TUBB1 ITGB3 ITGA2B GP1BB GP1BA GFI1B
10 bleeding disorder, platelet-type, 15 11.4
11 autosomal dominant macrothrombocytopenia tubb1-related 11.4
12 bleeding disorder, platelet-type, 17 11.2
13 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
14 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 10.3
15 cataract 10.3
16 acrokeratoderma, hereditary papulotranslucent 10.0 GP1BB GP1BA
17 sitosterolemia 1 10.0
18 sensorineural hearing loss 10.0
19 glomerular disease 10.0
20 twin-reversed arterial perfusion sequence 10.0
21 childhood acute megakaryoblastic leukemia 10.0 ITGA2B GP1BA
22 pseudo-von willebrand disease 10.0 GP1BB GP1BA
23 stormorken syndrome 10.0 TUBB1 GP1BB
24 bleeding disorder, platelet-type, 11 10.0 ITGA2B GP1BA
25 carotid artery thrombosis 10.0 ITGA2B GP1BA
26 infective endocarditis 9.9 ITGA2B GP1BA
27 acute erythroid leukemia 9.9 ITGA2B GFI1B
28 bleeding disorder, platelet-type, 16 9.9 ITGB3 ITGA2B
29 malignant gastric germ cell tumor 9.9 ITGB3 ITGA2B
30 heparin-induced thrombocytopenia 9.9 ITGB3 ITGA2B
31 gastric teratoma 9.9 ITGB3 ITGA2B
32 bleeding disorder, platelet-type, 18 9.9 ITGB3 ITGA2B
33 jacobsen syndrome 9.9 GP1BB GP1BA GFI1B
34 gray platelet syndrome 9.9 ITGA2B GFI1B
35 von willebrand's disease 9.8 ITGA2B GP1BB GP1BA
36 hemorrhagic disease 9.8 ITGA2B GP1BA
37 myelitis 9.8 ITGB3 ITGA2B
38 primary thrombocytopenia 9.7 ITGB3 ITGA2B GP1BA
39 myeloproliferative syndrome, transient 9.7 ITGB3 ITGA2B GP1BA
40 coronary thrombosis 9.7 ITGB3 ITGA2B GP1BA
41 thrombosis 9.7 ITGB3 ITGA2B GP1BA
42 hemophilia b 9.7 GP1BB GP1BA
43 thrombocytopenic purpura, autoimmune 9.7 ITGB3 ITGA2B GP1BA
44 purpura 9.7 ITGB3 ITGA2B GP1BA
45 acute megakaryocytic leukemia 9.7 ITGB3 ITGA2B GP1BA
46 amegakaryocytic thrombocytopenia, congenital 9.7 TUBB1 ITGA2B GP1BA GFI1B
47 erythroleukemia 9.7 ITGB3 ITGA2B GP1BA
48 essential thrombocythemia 9.7 ITGB3 ITGA2B GP1BA
49 arrhythmogenic right ventricular cardiomyopathy 9.6 ITGB3 ITGA2B ACTN1
50 arteriosclerosis 9.6 ITGB3 ITGA2B GP1BA

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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.17 GFI1B GP1BA GP1BB ITGA2B ITGB3 TRPM7

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

Organs/tissues related to Autosomal Dominant Macrothrombocytopenia:

MalaCards : Neutrophil, Myeloid

Publications for Autosomal Dominant Macrothrombocytopenia

Articles related to Autosomal Dominant Macrothrombocytopenia:

(show all 26)
# Title Authors PMID Year
1
A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. 62
33813986 2022
2
DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss. 62
32594080 2021
3
Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant: The importance of DNA sequencing. 62
31793234 2020
4
αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. 62
33276370 2020
5
A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. 62
30332551 2018
6
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. 62
30351444 2018
7
A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. 62
29380037 2018
8
Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report. 62
28795988 2018
9
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 62
28064200 2017
10
ACTN1 rod domain mutation associated with congenital macrothrombocytopenia. 62
26453073 2016
11
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family. 62
24069336 2013
12
Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. 62
19336737 2009
13
[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders]. 62
19489439 2009
14
[May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. 62
19227191 2009
15
Acute myeloid leukemia in a child with hereditary thrombocytopenia. 62
16276527 2007
16
Sebastian platelet syndrome: a hereditary macrothrombocytopenia. 62
14601703 2003
17
[May-Hegglin anomaly--from genome research to clinical laboratory]. 62
14560660 2003
18
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 62
12533692 2003
19
Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis. 62
12010687 2002
20
Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. 62
11222377 2001
21
Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). 62
11159552 2001
22
Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. 62
11776386 2001
23
Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13. 62
11071640 2000
24
Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. 62
10973260 2000
25
Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. 62
10914687 2000
26
Platelet kinetics in autosomal dominant macrothrombocytopenia. 62
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 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.42 TUBB1 TPM4 ITGB3 ITGA2B GP1BB GP1BA
2
Show member pathways
12.52 ACTN1 ITGA2B ITGB3 TUBB1
3
Show member pathways
12.49 TUBB1 ITGB3 ITGA2B GP1BB GP1BA ACTN1
4 11.93 ITGB3 ITGA2B ACTN1
5
Show member pathways
11.86 TUBB1 ITGB3 ITGA2B
6 11.5 ITGB3 ITGA2B GP1BA
7 11.22 ITGB3 ITGA2B
8 11.14 ITGB3 ITGA2B
9 11.1 ITGB3 ITGA2B
10 11.04 ITGB3 ITGA2B GP1BB
11 11.03 ITGB3 ITGA2B
12
Show member pathways
10.99 ITGB3 ACTN1
13
Show member pathways
10.91 GP1BB GP1BA
14
Show member pathways
10.91 ITGB3 ITGA2B GP1BB GP1BA
15 10.69 ITGB3 ITGA2B
16 10.58 ITGB3 ITGA2B

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 focal adhesion GO:0005925 9.76 TPM4 ITGB3 ITGA2B ACTN1
2 integrin complex GO:0008305 9.56 ITGB3 ITGA2B
3 platelet alpha granule membrane GO:0031092 9.26 ITGB3 ITGA2B
4 glycoprotein Ib-IX-V complex GO:1990779 8.92 GP1BB GP1BA

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 9.72 ITGB3 GP1BB GP1BA
2 megakaryocyte development GO:0035855 9.71 GP1BB GP1BA
3 positive regulation of platelet activation GO:0010572 9.56 GP1BB GP1BA
4 platelet formation GO:0030220 9.54 TUBB1 ACTN1
5 platelet activation GO:0030168 9.5 ITGB3 GP1BB GP1BA ACTN1
6 blood coagulation, intrinsic pathway GO:0007597 9.46 GP1BB GP1BA
7 hemostasis GO:0007599 9.43 GP1BB GP1BA
8 platelet aggregation GO:0070527 9.1 TUBB1 ITGB3 GP1BA ACTN1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix binding GO:0050840 9.26 ITGB3 ITGA2B
2 integrin binding GO:0005178 9.1 ITGB3 ITGA2B ACTN1

Sources for Autosomal Dominant Macrothrombocytopenia

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
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