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MT-TS1-pEDD

Previously: Mitochondrial PPK with hearing impairment

pEDD Gene: MT-TS1 Mitochondrial

Onset: Infancy

Pathway: Signalling molecules

Category Paper: pEDD Paper

Key Clinical Clues

Diffuse PPK with hearing impairment.

Additional Cutaneous Features

Diffuse PPK

Additional Extracutaneous Features

Hearing loss

References

Martin L, Toutain A, Guillen C et al. Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. Br J Dermatol 2000; 143:876-83.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer