Autosomal Dominant Macrothrombocytopenia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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.

Sources

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:

(showing 52, show less)

#	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	hemophilia b	9.7	GP1BB GP1BA
42	thrombosis	9.7	ITGB3 ITGA2B 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	essential thrombocythemia	9.7	ITGB3 ITGA2B GP1BA
48	arrhythmogenic right ventricular cardiomyopathy	9.6	ITGB3 ITGA2B ACTN1
49	arteriosclerosis	9.6	ITGB3 ITGA2B GP1BA
50	fetal and neonatal alloimmune thrombocytopenia	9.5	ITGB3 ITGA2B GP1BB GP1BA
51	acquired thrombocytopenia	9.5	ITGB3 ITGA2B GP1BB GP1BA
52	blood coagulation disease	9.5	ITGB3 ITGA2B GP1BB GP1BA

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

Sources

Symptoms & Phenotypes for Autosomal Dominant Macrothrombocytopenia

MGI Mouse Phenotypes related to Autosomal Dominant Macrothrombocytopenia:

⁴⁵ (showing 1, show less)

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

Sources

Drugs & Therapeutics for Autosomal Dominant Macrothrombocytopenia

Search Clinical Trials, NIH Clinical Center for Autosomal Dominant Macrothrombocytopenia

Sources

Genetic Tests for Autosomal Dominant Macrothrombocytopenia

Sources

Anatomical Context for Autosomal Dominant Macrothrombocytopenia

Organs/tissues related to Autosomal Dominant Macrothrombocytopenia:

MalaCards : Neutrophil, Myeloid

Sources

Publications for Autosomal Dominant Macrothrombocytopenia

Articles related to Autosomal Dominant Macrothrombocytopenia:

(showing 26, show less)

#	Title	Authors	PMID	Year
1	A novel frameshift GP1BB mutation causes autosomal dominant macrothrombocytopenia with decreased vWF receptor expression but normal platelet aggregation. ⁶²	Dunstan-Harrison C...Ledgerwood EC	33813986	2022
2	DIAPH1 Mutation as a Novel Cause of Autosomal Dominant Macrothrombocytopenia and Hearing Loss. ⁶²	Karki NR...Kutlar A	32594080	2021
3	Autosomal dominant macrothrombocytopenia caused by a rare GPIBB variant: The importance of DNA sequencing. ⁶²	De Kesel PM...Devreese KMJ	31793234	2020
4	αIIbβ3 variants in ten families with autosomal dominant macrothrombocytopenia: Expanding the mutational and clinical spectrum. ⁶²	Morais S...Lima M	33276370	2020
5	A novel germline mutation in GP1BA gene N-terminal domain in monoallelic Bernard-Soulier syndrome. ⁶²	Trizuljak J...Doubek M	30332551	2018
6	ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia. ⁶²	Faleschini M...Noris P	30351444	2018
7	A novel heterozygous ITGB3 p.T720del inducing spontaneous activation of integrin αIIbβ3 in autosomal dominant macrothrombocytopenia with aggregation dysfunction. ⁶²	Miyashita N...Teshima T	29380037	2018
8	Eltrombopag to Treat Thrombocytopenia During Last Month of Pregnancy in a Woman With MYH9-Related Disease: A Case Report. ⁶²	Favier R...Rigouzzo A	28795988	2018
9	Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. ⁶²	Sivapalaratnam S...Turro E	28064200	2017
10	ACTN1 rod domain mutation associated with congenital macrothrombocytopenia. ⁶²	Yasutomi M...Ohshima Y	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	Gueguen P...Ferec C	24069336	2013
12	Dominant inheritance of a novel integrin beta3 mutation associated with a hereditary macrothrombocytopenia and platelet dysfunction in two Italian families. ⁶²	Gresele P...Savoia A	19336737	2009
13	[Autosomal dominant macrothrombocytopenia with leukocyte inclusion bodies and MYH9 disorders]. ⁶²	Kunishima S	19489439	2009
14	[May-Hegglin anomaly: past and present--novel diagnostic test and new concept of the disease]. ⁶²	Kunishima S	19227191	2009
15	Acute myeloid leukemia in a child with hereditary thrombocytopenia. ⁶²	Rheingold SR	16276527	2007
16	Sebastian platelet syndrome: a hereditary macrothrombocytopenia. ⁶²	Rodriguez V...White JG	14601703	2003
17	[May-Hegglin anomaly--from genome research to clinical laboratory]. ⁶²	Kunishima S	14560660	2003
18	Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. ⁶²	Kunishima S...Saito H	12533692	2003
19	Autosomal dominant macrothrombocytopenia with ineffective thrombopoiesis. ⁶²	Fabris F...Girolami A	12010687	2002
20	Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome. ⁶²	Savoia A...Iolascon A	11222377	2001
21	Mutations in the NMMHC-A gene cause autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly/Sebastian syndrome). ⁶²	Kunishima S...Saito H	11159552	2001
22	Identification of six novel MYH9 mutations and genotype-phenotype relationships in autosomal dominant macrothrombocytopenia with leukocyte inclusions. ⁶²	Kunishima S...Saito H	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	Toren A...Greinacher A	11071640	2000
24	Mutation of MYH9, encoding non-muscle myosin heavy chain A, in May-Hegglin anomaly. ⁶²	Kelley MJ...Korczak JF	10973260	2000
25	Autosomal dominant macrothrombocytopenia with leukocyte inclusions (May-Hegglin anomaly) is linked to chromosome 22q12-13. ⁶²	Kelley MJ...Korczak JF	10914687	2000
26	Platelet kinetics in autosomal dominant macrothrombocytopenia. ⁶²	Erslev AJ...Martinez J	9626983	1998

Sources

Genes for Autosomal Dominant Macrothrombocytopenia

Genes related to Autosomal Dominant Macrothrombocytopenia (9 elite genes):

(showing 9, show less)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	358.26	Causative germline mutation ⁵⁸ GeneCards inferred via : Summaries (show sections)	18849486
2	ACTN1	Actinin Alpha 1	Protein Coding	350	Causative germline mutation ⁵⁸	23434115
3	GFI1B	Growth Factor Independent 1B Transcriptional Repressor	Protein Coding	350	Causative germline mutation ⁵⁸	23927492
4	GP1BA	Glycoprotein Ib Platelet Subunit Alpha	Protein Coding	350	Causative germline mutation ⁵⁸	21933849
5	GP1BB	Glycoprotein Ib Platelet Subunit Beta	Protein Coding	350	Causative germline mutation ⁵⁸	28064200
6	ITGA2B	Integrin Subunit Alpha 2b	Protein Coding	350	Causative germline mutation ⁵⁸	21454453
7	ITGB3	Integrin Subunit Beta 3	Protein Coding	350	Causative germline mutation ⁵⁸	18065693 19336737
8	TPM4	Tropomyosin 4	Protein Coding	350	Causative germline mutation (loss of function) ⁵⁸	28134622
9	TRPM7	Transient Receptor Potential Cation Channel Subfamily M Member 7	Protein Coding	350	Causative germline mutation ⁵⁸	27020697

Sources

Variations for Autosomal Dominant Macrothrombocytopenia

Sources

Expression for Autosomal Dominant Macrothrombocytopenia

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

Sources

Pathways for Autosomal Dominant Macrothrombocytopenia

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

(showing 16, show less)

#	Super pathways	Score	Top Affiliating Genes
1	Disease ⁶⁶ Show member pathways Infectious disease ⁶⁶	13.42	TUBB1 TPM4 ITGB3 ITGA2B GP1BB GP1BA
2	Sertoli-Sertoli Cell Junction Dynamics ⁶⁴ Show member pathways Epithelial Tight Junctions ⁶⁴ Germ Cell-Sertoli Cell Junction Dynamics ⁶⁴	12.52	ACTN1 ITGA2B ITGB3 TUBB1
3	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	12.49	TUBB1 ITGB3 ITGA2B GP1BB GP1BA ACTN1
4	Focal adhesion ⁷⁴	11.93	ITGB3 ITGA2B ACTN1
5	L1CAM interactions ⁶⁶ Show member pathways CHL1 interactions ⁶⁶ Neurofascin interactions ⁶⁶ NrCAM interactions ⁶⁶ Recycling pathway of L1 ⁶⁶	11.86	TUBB1 ITGB3 ITGA2B
6	Hematopoietic Stem Cells and Lineage-specific Markers ⁶⁵	11.5	ITGB3 ITGA2B GP1BA
7	Signaling events mediated by PTP1B ⁶¹	11.22	ITGB3 ITGA2B
8	Beta3 integrin cell surface interactions ⁶¹	11.14	ITGB3 ITGA2B
9	Heparin-induced Thrombocytopenia Pathway, Adverse Drug Reaction ⁶⁰	11.1	ITGB3 ITGA2B
10	Platelet Aggregation Inhibitor Pathway, Pharmacodynamics ⁶⁰	11.04	ITGB3 ITGA2B GP1BB
11	Arf6 signaling events ⁶¹	11.03	ITGB3 ITGA2B
12	MFAP5 effect on permeability and motility of endothelial cells via cytoskeleton rearrangement ⁷⁴ Show member pathways MFAP5-mediated ovarian cancer cell motility and invasiveness ⁷⁴	10.99	ITGB3 ACTN1
13	Platelet Adhesion to exposed collagen ⁶⁶ Show member pathways GP1b-IX-V activation signalling ⁶⁶	10.91	GP1BB GP1BA
14	Integrin signaling ⁶⁶ Show member pathways GRB2:SOS provides linkage to MAPK signaling for Integrins ⁶⁶ p130Cas linkage to MAPK signaling for integrins ⁶⁶ Platelet Aggregation (Plug Formation) ⁶⁶	10.91	ITGB3 ITGA2B GP1BB GP1BA
15	Signal transduction by L1 ⁶⁶	10.69	ITGB3 ITGA2B
16	Ephrin B reverse signaling ⁶¹	10.58	ITGB3 ITGA2B

Sources

GO Terms for Autosomal Dominant Macrothrombocytopenia

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

(showing 4, show less)

#	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:

(showing 8, show less)

#	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:

(showing 2, show less)

#	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

Sources for Autosomal Dominant Macrothrombocytopenia

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: ATS208 MIFTS: 26	Autosomal Dominant Macrothrombocytopenia Categories: Blood diseases, Genetic diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Tissues Related diseases Publications Collapse all tables