MCID: MCR139
MIFTS: 20

Macrothrombocytopenia and Progressive Sensorineural Deafness malady

Genetic diseases, Nephrological diseases, Blood diseases, Rare diseases, Ear diseases categories
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Summaries for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Genetics Home Reference:21 MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).

MalaCards based summary: Macrothrombocytopenia and Progressive Sensorineural Deafness, also known as myh9-related disorder, is related to myh9-related disorders and myh9 related thrombocytopenia, and has symptoms including An important gene associated with Macrothrombocytopenia and Progressive Sensorineural Deafness is MYH9 (myosin, heavy chain 9, non-muscle). Affiliated tissues include eye and kidney.

Description from OMIM:46 600208

Aliases & Classifications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Sources:
46OMIM, 48Orphanet, 62UMLS, 26ICD10 via Orphanet
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Macrothrombocytopenia and Progressive Sensorineural Deafness, Aliases & Descriptions:

Name: Macrothrombocytopenia and Progressive Sensorineural Deafness 46
Myh9-Related Disorder 48 62
Myh9-Related Disease 48 62
 
Myh9-Related Syndromic Thrombocytopenia 48
Myh9-Related Syndrome 48
Myh9-Rd 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
myh9-related disorder:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000; Age of onset: Variable; Age of death: Normal


External Ids:

OMIM46 600208
ICD10 via Orphanet26 D69.4

Related Diseases for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Diseases related to Macrothrombocytopenia and Progressive Sensorineural Deafness via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1myh9-related disorders10.7
2myh9 related thrombocytopenia10.4
3cataract10.1
4myelofibrosis10.1

Symptoms for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Symptoms by clinical synopsis from OMIM:

600208

Clinical features from OMIM:

600208

HPO human phenotypes related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

(show all 9)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 abnormality of the urinary system HP:0000079
3 progressive sensorineural hearing impairment HP:0000408
4 abnormality of the eye HP:0000478
5 bruising susceptibility HP:0000978
6 thrombocytopenia HP:0001873
7 abnormal bleeding HP:0001892
8 giant platelets HP:0001902
9 prolonged bleeding time HP:0003010

Drugs & Therapeutics for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Drug clinical trials:

Search ClinicalTrials for Macrothrombocytopenia and Progressive Sensorineural Deafness

Search NIH Clinical Center for Macrothrombocytopenia and Progressive Sensorineural Deafness

Genetic Tests for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Anatomical Context for Macrothrombocytopenia and Progressive Sensorineural Deafness

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MalaCards organs/tissues related to Macrothrombocytopenia and Progressive Sensorineural Deafness:

32
Eye, Kidney

Animal Models for Macrothrombocytopenia and Progressive Sensorineural Deafness or affiliated genes

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Publications for Macrothrombocytopenia and Progressive Sensorineural Deafness

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Variations for Macrothrombocytopenia and Progressive Sensorineural Deafness

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UniProtKB/Swiss-Prot genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

64
id Symbol AA change Variation ID SNP ID
1MYH9p.Asp1424AsnVAR_018316

Clinvar genetic disease variations for Macrothrombocytopenia and Progressive Sensorineural Deafness:

6 (show all 12)
id Gene Name Type Significance SNP ID Assembly Location
1MYH9NM_002473.4(MYH9): c.5797C> T (p.Arg1933Ter)single nucleotide variantPathogenicrs80338835GRCh37Chr 22, 36678800: 36678800
2MYH9NM_002473.4(MYH9): c.5521G> A (p.Glu1841Lys)single nucleotide variantPathogenicrs80338834GRCh37Chr 22, 36680520: 36680520
3MYH9NM_002473.4(MYH9): c.3493C> T (p.Arg1165Cys)single nucleotide variantPathogenicrs80338829GRCh37Chr 22, 36691115: 36691115
4MYH9NM_002473.4(MYH9): c.4270G> C (p.Asp1424His)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
5MYH9NM_002473.4(MYH9): c.2104C> T (p.Arg702Cys)single nucleotide variantPathogenicrs80338826GRCh37Chr 22, 36702031: 36702031
6MYH9NM_002473.4(MYH9): c.2114G> A (p.Arg705His)single nucleotide variantPathogenicrs80338828GRCh37Chr 22, 36702021: 36702021
7MYH9NM_002473.4(MYH9): c.2105G> A (p.Arg702His)single nucleotide variantPathogenicrs80338827GRCh37Chr 22, 36702030: 36702030
8MYH9NM_002473.4(MYH9): c.4270G> A (p.Asp1424Asn)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106
9MYH9NM_002473.4(MYH9): c.287C> T (p.Ser96Leu)single nucleotide variantPathogenicrs121913657GRCh37Chr 22, 36744995: 36744995
10MYH9MYH9, 18-BP DEL, NT228deletionPathogenic
11MYH9NM_002473.4(MYH9): c.3494G> T (p.Arg1165Leu)single nucleotide variantPathogenicrs80338830GRCh37Chr 22, 36691114: 36691114
12MYH9NM_002473.4(MYH9): c.4270G> T (p.Asp1424Tyr)single nucleotide variantPathogenicrs80338831GRCh37Chr 22, 36688106: 36688106

Expression for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Expression patterns in normal tissues for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Pathways for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Compounds for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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GO Terms for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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Products for genes affiliated with Macrothrombocytopenia and Progressive Sensorineural Deafness

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  • Antibodies
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Sources for Macrothrombocytopenia and Progressive Sensorineural Deafness

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet