Related MeSH Hierarchy (6)
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Polyneuropathies » Hereditary Sensory and Motor Neuropathy » Giant Axonal Neuropathy
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Congenital Abnormalities » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Giant Axonal Neuropathy
Diseases [C] » Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] » Genetic Diseases, Inborn » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Giant Axonal Neuropathy
Diseases [C] » Nervous System Diseases [C10] » Nervous System Malformations » Hereditary Sensory and Motor Neuropathy » Giant Axonal Neuropathy
Diseases [C] » Nervous System Diseases [C10] » Neurodegenerative Diseases » Heredodegenerative Disorders, Nervous System » Hereditary Sensory and Motor Neuropathy » Giant Axonal Neuropathy
Diseases [C] » Nervous System Diseases [C10] » Neuromuscular Diseases » Peripheral Nervous System Diseases » Giant Axonal Neuropathy
Description
Rare autosomal recessive disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS). MeSH
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Phase 1 Indicated Drugs (1)
Organization Involved with Phase 1 Indications (1)
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UMLS Data
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