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MYH9

myosin heavy chain 9

HCNC Approved Symbol
MYH9 (HGNC:7579)
Genomic Coordinates
22:36,281,280 - 36,387,967 (22q12.3)
Synonyms
NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS, DFNA17
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
Deafness, autosomal dominant 17
603622AD
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
155100AD

Diagnosed Cases

16Patients

In total, 16 patients were diagnosed with a variant in the MYH9 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

Thrombocytopenia
 5 (31.3%)
Hearing loss
 4 (25.0%)
Proteinuria
 
2 (12.5%)
Large platelets
 
2 (12.5%)
Macrothrombocytopenia
 
2 (12.5%)