Multisystem Proteinopathy

Alias:

Inclusion Body Myopathy with Early-Onset Paget Disease and Frontotemporal Dementia

Inclusion Body Myopathy with Early-Onset Paget Disease of Bone and/or Frontotemporal Dementia

Inclusion Body Myopathy with Paget Disease of Bone and/or Frontotemporal Dementia

Lower Motor Neuron Degeneration with Paget-Like Bone Disease

Muscular Dystrophy, Limb-Girdle, with Paget Disease of Bone

Pagetoid Amyotrophic Lateral Sclerosis

Pagetoid Neuroskeletal Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Multisystem Proteinopathy, also known as inclusion body myopathy with early-onset paget disease and frontotemporal dementia, is related to amyotrophic lateral sclerosis 21 and inclusion body myopathy with early-onset paget disease of bone with or without frontotemporal dementia 2, and has symptoms including back pain and hip pain. An important gene associated with Multisystem Proteinopathy is VCP (Valosin Containing Protein), and among its related pathways/superpathways are Regulation of degradation of deltaF508 CFTR in CF and Translational Control. Affiliated tissues include bone and brain, and related phenotypes are shRNA abundance <= 50% and Increased SMN2 exon 7 inclusion

Related ID：

MALACARDS：MLT177