Features include always present findings: Distal amyotrophy, Distal muscle weakness, and Fiber type grouping; and common findings: Abnormal foot morphology, Hearing loss (hearing impairment), Mildly elevated creatine kinase, and Hoarse voice and others. 12 total HPO annotations.

MYH14 encodes myosin heavy chain 14 (1,995 aa). Cellular myosin that appears to play a role in cytokinesis, cell shape, and specialized functions such as secretion and capping Highest expression in Skin Sun Exposed Lower leg (109.7 TPM) and Muscle Skeletal (106.9 TPM).

Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome is associated with mutations in the MYH14 gene on chromosome 19.

The MYH14 protein participates in Smooth muscle/non-muscle myosin II, p-T19-MRLC-Smooth muscle/non-muscle myosin II, and p-T19,S20-MRLC-smooth muscle/non-muscle myosin II pathways.

MYH14 is classified as a druggable target with score 5.8.

Genetic testing for MYH14 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 5 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome.

290 publications have been identified in PubMed for peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome. Kisho has analyzed 135 by research type. Research spans Basic Science / Preclinical (34%), Review / Meta-Analysis (29%), and Case Report / Case Series (15%).