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PedAM

Pediatric Disease Annotations & Medicines




Disease neuritis
Phenotype C0002736|amyotrophic lateral sclerosis
Sentences 1
PubMedID- 26316708 The importance of optn was first raised after discovering disease-causing mutations in primary open-angle glaucoma.38 in addition, optn may be involved in neurofibrillary tangles and dystrophic neuritis that leads to alzheimer’s disease, amyotrophic lateral sclerosis, parkinson’s disease, creutzfeldt–jakob disease, and glial cytoplasmic inclusions that lead to a rare neurological disorder called multiple system atropy.39 although the exact role of optn in paget’s disease of bone pathogenesis is unknown yet, interaction between optn and tank-binding kinase 1 may suggest a connection with the immune system.

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