DISEASE: Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Entry
H02817 Disease
Name
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Description
Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) is a rare autosomal dominant neuromuscular disorder with complex phenotypes. A mutation in MYH14 gene, which encodes a member of the nonmuscle myosin heavy-chain II family, has been reported in the families of this disease.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Disorders of nerve root, plexus or peripheral nerves
Hereditary neuropathy
8C20 Hereditary motor and sensory neuropathy
H02817 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06546 IgSF CAM signaling
H02817 Peripheral neuropathy, myopathy, hoarseness, and hearing loss
