Details of Disease | DrugMAP

General Information of Disease (ID: DISD2ZGX)

Disease Name	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Synonyms	peripheral neuropathy, myopathy, hoarseness, and hearing loss; PNMHH; peripheral neuropathy-myopathy-hoarseness-deafness syndrome
Disease Hierarchy	DISFMEP5: Autosomal dominant distal myopathy DIS4M3WN: Neuronopathy, distal hereditary motor, autosomal dominant DISD2ZGX: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Disease Identifiers	MONDO ID MONDO_0013711 UMLS CUI C3280556 OMIM ID 614369 MedGen ID 482186 Orphanet ID 397744

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MYH14	OT1TZEJK	Strong	Autosomal dominant	[1]
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References

1	A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14. Hum Mutat. 2011 Jun;32(6):669-77. doi: 10.1002/humu.21488. Epub 2011 Apr 7.