MCID: MYH015
MIFTS: 42

Myh-9 Related Disease

Categories: Blood diseases, Ear diseases, Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Myh-9 Related Disease

MalaCards integrated aliases for Myh-9 Related Disease:

Name: Myh-9 Related Disease 11 14
Myh9-Related Disease 24 58
Myh9-Related Syndromic Thrombocytopenia 58
Myh9-Related Disorder 58
Myh9-Related Syndrome 58
Sebastian Syndrome 71
Myh9-Rd 58

Characteristics:


Inheritance:

Myh9-Related Disease: Autosomal dominant 58

Prevelance:

Myh9-Related Disease: 1-9/1000000 (Italy, Europe) 58

Age Of Onset:

Myh9-Related Disease: Adolescent,Adult,Childhood,Infancy,Neonatal 58

GeneReviews:

24
Penetrance Penetrance is complete for the following congenital findings:...

Classifications:

Orphanet: 58  
Rare renal diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis
Rare haematological diseases


External Ids:

Disease Ontology 11 DOID:0060651
ICD10 31 D69.4
ICD10 via Orphanet 32 D69.4
UMLS via Orphanet 72 C1854520
Orphanet 58 ORPHA182050
UMLS 71 C1854520

Summaries for Myh-9 Related Disease

Orphanet: 58 MYH9-related disease (MYH9-RD) is an inherited giant platelet disorder with a complex phenotype characterized by congenital thrombocytopenia and possible subsequent manifestations of sensorineural hearing loss, presenile cataracts, elevation of liver enzymes, and/or progressive nephropathy often leading to end-stage renal disease (ESRD). Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly and Sebastian syndrome, previously described as distinct disorders, represent some of the different clinical presentations of MYH9-RD.

MalaCards based summary: Myh-9 Related Disease, also known as myh9-related disease, is related to macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss and qualitative platelet defect. An important gene associated with Myh-9 Related Disease is MYH9 (Myosin Heavy Chain 9), and among its related pathways/superpathways are ERK Signaling and Response to elevated platelet cytosolic Ca2+. Affiliated tissues include liver, neutrophil and bone marrow, and related phenotypes are congenital thrombocytopenia and sensorineural hearing impairment

Disease Ontology: 11 A blood platelet disease that has material basis in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract.

GeneReviews: NBK2689

Related Diseases for Myh-9 Related Disease

Diseases related to Myh-9 Related Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 65)
# Related Disease Score Top Affiliating Genes
1 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss 32.5 TUBB1 MYH9
2 qualitative platelet defect 30.2 GP1BA ANKRD26
3 deafness, autosomal dominant 17 30.2 MYH9 MYH7B MYH14 MYH10
4 thrombocytopenia due to platelet alloimmunization 29.9 MPL GP9 GP1BA ANKRD26
5 autosomal dominant macrothrombocytopenia 29.4 TUBB1 GP1BB GP1BA GFI1B ACTN1
6 blood platelet disease 28.6 NBEAL2 MYH9 MPL GP9 GP1BB GP1BA
7 thrombocytopenia 28.3 TUBB1 SLFN14 NBEAL2 MYH9 MPL GP9
8 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
9 sensorineural hearing loss 10.6
10 cataract 10.5
11 end stage renal disease 10.4
12 ankrd26-related thrombocytopenia 10.2 MYH9 ANKRD26
13 glomerulonephritis 10.2
14 rare genetic deafness 10.2
15 fetal and neonatal alloimmune thrombocytopenia 10.1 GP1BB GP1BA
16 thrombocytopenic purpura, autoimmune 10.1
17 ataxia with vitamin e deficiency 10.1
18 focal segmental glomerulosclerosis 10.1
19 purpura 10.1
20 primary thrombocytopenia 10.0 MPL GP1BA
21 myelofibrosis 10.0
22 aortic aneurysm, familial thoracic 1 10.0
23 aortic aneurysm 10.0
24 bleeding disorder, platelet-type, 17 10.0 NBEAL2 GFI1B
25 acute kidney failure 10.0
26 retinal disease 10.0
27 leukemia, chronic lymphocytic 2 10.0
28 leiomyoma, uterine 10.0
29 leukemia, chronic lymphocytic 10.0
30 thrombophilia due to thrombin defect 10.0
31 down syndrome 10.0
32 wiskott-aldrich syndrome 10.0
33 thrombocytopenia 6 10.0
34 thrombosis 10.0
35 alport syndrome 10.0
36 nephrotic syndrome 10.0
37 neutropenia 10.0
38 mood disorder 10.0
39 kidney disease 10.0
40 sudden sensorineural hearing loss 10.0
41 thrombasthenia 9.9 GP9 GP1BA
42 bernard-soulier syndrome, type a2, autosomal dominant 9.9 TUBB1 GP1BA GFI1B
43 bleeding disorder, platelet-type, 8 9.9 NBEAL2 GP1BB
44 nonaka myopathy 9.9 MYH2 ACTN1
45 autosomal dominant nonsyndromic deafness 9.9 MYH9 MYH7B MYH14
46 sialuria 9.9 SLFN14 ACTN1
47 myeloproliferative syndrome, transient 9.9 MPL GP1BA
48 radioulnar synostosis 9.8 NBEAL2 MPL GFI1B ANKRD26
49 bleeding disorder, platelet-type, 18 9.8 SLFN14 NBEAL2
50 thrombocytopenia-absent radius syndrome 9.8 NBEAL2 MPL GP1BB ANKRD26

Graphical network of the top 20 diseases related to Myh-9 Related Disease:



Diseases related to Myh-9 Related Disease

Symptoms & Phenotypes for Myh-9 Related Disease

Human phenotypes related to Myh-9 Related Disease:

58 30 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 congenital thrombocytopenia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001905
2 sensorineural hearing impairment 58 30 Frequent (33%) Frequent (79-30%)
HP:0000407
3 proteinuria 58 30 Frequent (33%) Frequent (79-30%)
HP:0000093
4 nephropathy 58 30 Frequent (33%) Frequent (79-30%)
HP:0000112
5 renal insufficiency 58 30 Frequent (33%) Frequent (79-30%)
HP:0000083
6 elevated hepatic transaminase 58 30 Frequent (33%) Frequent (79-30%)
HP:0002910
7 bruising susceptibility 58 30 Frequent (33%) Frequent (79-30%)
HP:0000978
8 prolonged bleeding time 58 30 Frequent (33%) Frequent (79-30%)
HP:0003010
9 menorrhagia 58 30 Frequent (33%) Frequent (79-30%)
HP:0000132
10 nephritis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000123
11 spontaneous, recurrent epistaxis 58 30 Frequent (33%) Frequent (79-30%)
HP:0004406
12 giant platelets 58 30 Frequent (33%) Frequent (79-30%)
HP:0001902
13 presenile cataracts 58 30 Frequent (33%) Frequent (79-30%)
HP:0007819
14 neutrophil inclusion bodies 58 30 Frequent (33%) Frequent (79-30%)
HP:0008264
15 myocardial infarction 58 30 Very rare (1%) Very rare (<4-1%)
HP:0001658
16 increased mean platelet volume 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Myh-9 Related Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.77 ANKRD26 GFI1B GP1BA GP1BB MPL MYH10
2 hematopoietic system MP:0005397 9.32 GFI1B GP1BA GP1BB GP9 MPL MYH7B

Drugs & Therapeutics for Myh-9 Related Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Exploratory Phase II Dose Escalation Study of Eltrombopag in MYH9 Related Disease Completed NCT01133860 Phase 2 eltrombopag

Search NIH Clinical Center for Myh-9 Related Disease

Genetic Tests for Myh-9 Related Disease

Anatomical Context for Myh-9 Related Disease

Organs/tissues related to Myh-9 Related Disease:

MalaCards : Liver, Neutrophil, Bone Marrow, Kidney, Tongue, Endothelial, Bone

Publications for Myh-9 Related Disease

Articles related to Myh-9 Related Disease:

(show top 50) (show all 145)
# Title Authors PMID Year
1
Megakaryocyte migration defects due to nonmuscle myosin IIA mutations underlie thrombocytopenia in MYH9-related disease. 62 24
32315395 2020
2
MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy. 62 24
31384439 2019
3
MYH9: Structure, functions and role of non-muscle myosin IIA in human disease. 62 24
29679756 2018
4
Diagnosis of inherited platelet disorders on a blood smear: a tool to facilitate worldwide diagnosis of platelet disorders. 62 24
28457011 2017
5
Nonmuscle Myosin Heavy Chain IIA Mutation Predicts Severity and Progression of Sensorineural Hearing Loss in Patients With MYH9-Related Disease. 62 24
26226608 2016
6
R705H mutation of MYH9 is associated with MYH9-related disease and not only with non-syndromic deafness DFNA17. 62 24
24890873 2015
7
Cochlear implantation is safe and effective in patients with MYH9-related disease. 62 24
24980457 2014
8
MYH9-related disease: a novel prognostic model to predict the clinical evolution of the disease based on genotype-phenotype correlations. 62 24
24186861 2014
9
Apparent genotype-phenotype mismatch in a patient with MYH9-related disease: when the exception proves the rule. 62 24
23925420 2013
10
A new feature of the MYH9-related syndrome: chronic transaminase elevation. 62 24
22806255 2013
11
Alteration of liver enzymes is a feature of the MYH9-related disease syndrome. 62 24
22558294 2012
12
Eltrombopag for the treatment of the inherited thrombocytopenia deriving from MYH9 mutations. 62 24
20844233 2010
13
Heavy chain myosin 9-related disease (MYH9 -RD): neutrophil inclusions of myosin-9 as a pathognomonic sign of the disorder. 62 24
20174760 2010
14
MYH9-related disease: May-Hegglin anomaly, Sebastian syndrome, Fechtner syndrome, and Epstein syndrome are not distinct entities but represent a variable expression of a single illness. 62 24
12792306 2003
15
FLNA variants associated with disorders of platelet number or function. 24
32299270 2020
16
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial. 24
31273088 2020
17
Validation of the ISTH/SSC bleeding assessment tool for inherited platelet disorders: A communication from the Platelet Physiology SSC. 24
31750621 2020
18
Malta (MYH9 Associated Elastin Aggregation) Syndrome: Germline Variants in MYH9 Cause Rare Sweat Duct Proliferations and Irregular Elastin Aggregations. 24
31125547 2019
19
Eltrombopag in preparation for surgery in patients with severe MYH9-related thrombocytopenia. 24
31034630 2019
20
Mutation in GNE is associated with severe congenital thrombocytopenia. 24
29941673 2018
21
Bleeding risk of surgery and its prevention in patients with inherited platelet disorders. 24
28385783 2017
22
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia. 24
28064200 2017
23
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
24
Analysis of 339 pregnancies in 181 women with 13 different forms of inherited thrombocytopenia. 24
24763399 2014
25
Platelet diameters in inherited thrombocytopenias: analysis of 376 patients with all known disorders. 24
24990887 2014
26
Mutation spectrum and genotype-phenotype correlations in a large French cohort of MYH9-Related Disorders. 24
25077172 2014
27
Somatic mosaicism in MYH9 disorders: the need to carefully evaluate apparently healthy parents. 24
24611568 2014
28
Normal neutrophil myosin IIA localization in an immunofluorescence analysis can rule out MYH9 disorders. 24
24106837 2013
29
Patients with Epstein-Fechtner syndromes owing to MYH9 R702 mutations develop progressive proteinuric renal disease. 24
20200500 2010
30
Germinal mosaicism in MYH9 disorders: a family with two affected siblings of normal parents. 24
19208103 2009
31
MYH9-related platelet disorders. 24
19408192 2009
32
Renin-angiotensin system blockade is effective in reducing proteinuria of patients with progressive nephropathy caused by MYH9 mutations (Fechtner-Epstein syndrome). 24
18503011 2008
33
Identification and characterization of the first large deletion of the MYH9 gene associated with MYH9 disorders. 24
18284620 2008
34
First description of somatic mosaicism in MYH9 disorders. 24
15667538 2005
35
Immunofluorescence analysis of neutrophil nonmuscle myosin heavy chain-A in MYH9 disorders: association of subcellular localization with MYH9 mutations. 24
12533692 2003
36
Human nonsyndromic hereditary deafness DFNA17 is due to a mutation in nonmuscle myosin MYH9. 24
11023810 2000
37
In vitro and in vivo effects of desmopressin on platelet function. 24
10509036 1999
38
Avatrombopag improves thrombocytopenia in MYH9-related disorder following eltrombopag treatment failure. 62
35791514 2022
39
Post-Kidney Transplant Brief Psychosis in a Patient With MYH9-Related Disease: A Case Report. 62
36369142 2022
40
A gain-of-function variant in the Wiskott-Aldrich syndrome gene is associated with a MYH9-related disease-like syndrome. 62
35404999 2022
41
Defective VWF secretion due to expression of MYH9-RD E1841K mutant in endothelial cells disrupts hemostasis. 62
35764499 2022
42
Reduced platelet forces underlie impaired hemostasis in mouse models of MYH9-related disease. 62
35584211 2022
43
Characterization of Sensorineural Hearing Loss in Patients With MYH9-Related Disease: A Systematic Review. 62
35147601 2022
44
"MYH9 mutation and squamous cell cancer of the tongue in a young adult: a novel case report". 62
35125114 2022
45
Lower Leg Hyperpigmentation in MYH9-Related Disorder. 62
35180070 2022
46
MYH9-related Disease Caused by an R1165C Mutation in a Child With Previous Diagnosis of Immune Thrombocytopenic Purpura. 62
34310475 2021
47
Immunoglobulin A nephropathy in a patient with an MYH9 -related disorder. 62
34383333 2021
48
[Gene analysis and clinical features of MYH9-related disease]. 62
34711031 2021
49
[Clinical and genetic features of seven children with MYH9-related disease]. 62
34711033 2021
50
Individualized Bleeding Risk Assessment through Thromboelastography: A Case Report of May-Hegglin Anomaly in Preterm Twin Neonates. 62
34682143 2021

Variations for Myh-9 Related Disease

Expression for Myh-9 Related Disease

Search GEO for disease gene expression data for Myh-9 Related Disease.

Pathways for Myh-9 Related Disease

Pathways related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.58 TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
2
Show member pathways
13.05 TUBB1 MPL GP9 GP1BB GP1BA ACTN1
3
Show member pathways
13.04 TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
4
Show member pathways
12.83 MYH9 MYH7B MYH2 MYH14 MYH10
5
Show member pathways
12.77 MYH9 MYH2 MYH14 MYH10 ACTN1
6
Show member pathways
12.69 MYH10 MYH14 MYH2 MYH7B MYH9
7
Show member pathways
12.37 MYH9 MYH14 MYH10 ACTN1
8
Show member pathways
12.32 MYH9 MYH2 MYH14 MYH10 ACTN1
9 12.28 MYH9 MYH14 MYH10 ACTN1
10
Show member pathways
12.03 MYH10 MYH14 MYH2 MYH7B MYH9
11
Show member pathways
11.95 TUBB1 MYH9 MYH7B MYH2 MYH14 MYH10
12
Show member pathways
11.9 MYH9 MYH2 MYH14 MYH10 ACTN1
13 11.85 GP9 GP1BB GP1BA
14
Show member pathways
11.6 MPL GP9 GP1BB GP1BA
15
Show member pathways
11.53 MYH9 MYH14 MYH10
16
Show member pathways
11.01 GP9 GP1BB GP1BA
17 10.9 MYH9 MYH7B MYH2 MYH14 MYH10

GO Terms for Myh-9 Related Disease

Cellular components related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stress fiber GO:0001725 10.01 MYH9 MYH14 MYH10 ACTN1
2 brush border GO:0005903 9.91 MYH9 MYH14 ACTN1
3 actomyosin GO:0042641 9.85 MYH9 MYH14 MYH10
4 glycoprotein Ib-IX-V complex GO:1990779 9.8 GP9 GP1BB GP1BA
5 myosin II filament GO:0097513 9.73 MYH10 MYH14 MYH9
6 myosin II complex GO:0016460 9.65 MYH9 MYH7B MYH2 MYH14 MYH10
7 myosin complex GO:0016459 9.63 MYH9 MYH7B MYH2 MYH14 MYH10
8 myosin filament GO:0032982 9.32 MYH9 MYH7B MYH2 MYH14 MYH10

Biological processes related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 release of sequestered calcium ion into cytosol GO:0051209 9.93 GP9 GP1BB GP1BA
2 actomyosin structure organization GO:0031032 9.91 MYH9 MYH14 MYH10
3 blood coagulation GO:0007596 9.89 GP9 GP1BB GP1BA
4 platelet activation GO:0030168 9.88 GP1BB GP1BA ACTN1
5 megakaryocyte development GO:0035855 9.85 GP9 GP1BB GP1BA
6 actin filament-based movement GO:0030048 9.8 MYH10 MYH14 MYH9
7 positive regulation of platelet activation GO:0010572 9.73 GP9 GP1BB GP1BA
8 blood coagulation, intrinsic pathway GO:0007597 9.63 GP9 GP1BB GP1BA
9 hemostasis GO:0007599 9.58 GP9 GP1BB GP1BA
10 platelet formation GO:0030220 9.5 TUBB1 NBEAL2 MYH9 ACTN1
11 platelet aggregation GO:0070527 9.23 TUBB1 MYH9 MPL GP1BA ACTN1

Molecular functions related to Myh-9 Related Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calmodulin binding GO:0005516 9.97 MYH9 MYH2 MYH14 MYH10
2 actin filament binding GO:0051015 9.93 ACTN1 MYH10 MYH14 MYH2 MYH7B MYH9
3 nucleotide binding GO:0000166 9.87 TUBB1 SLFN14 MYH9 MYH7B MYH2 MYH14
4 actin binding GO:0003779 9.86 MYH9 MYH7B MYH2 MYH14 MYH10 ACTN1
5 cytoskeletal motor activity GO:0003774 9.43 MYH9 MYH7B MYH2 MYH14 MYH10
6 microfilament motor activity GO:0000146 9.32 MYH9 MYH7B MYH2 MYH14 MYH10

Sources for Myh-9 Related Disease

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 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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