Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus (ACPHD) is an autosomal recessive disorder caused by loss-of-function mutations in DNAJC3. It encodes ER protein which serves to attenuate late phases of ER stress. ACPHD is characterized by juvenile-onset diabetes and central and peripheral neurodegeneration, including ataxia, upper-motor-neuron damage, peripheral neuropathy, hearing loss, and cerebral atrophy.
