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Disease Giant Axonal Neuropathy

Name Giant Axonal Neuropathy
Synonyms Axonal Neuropathy, Giant | Axonal Neuropathy, Giant (GAN) | GAN | GAN1 | Giant Axonal Neuropathy 1 | GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE | Giant Axonal Neuropathy 1 (GAN1) | Giant Axonal Neuropathy (GAN) | Neuropathy, Giant Axonal | Neuropathy, Giant Axonal, Autosomal Recessive | Neuropathy, Giant Axonal (GAN)
Definition 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).
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D056768
OMIM® ID 256850

Top ↑ Ancestors

1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes
2. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neurodegenerative Diseases Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes
3. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes
4. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Neuromuscular Diseases Has associated chemicals Has associated genes Has associated exposure references Peripheral Nervous System Diseases Has associated chemicals Has associated genes Polyneuropathies Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Nervous System Malformations Has associated chemicals Has associated genes Has associated exposure references Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Heredodegenerative Disorders, Nervous System Has associated chemicals Has associated genes Hereditary Sensory and Motor Neuropathy Has associated chemicals Has associated genes Giant Axonal Neuropathy Has associated chemicals Has associated genes

Top ↑ Descendants

Giant Axonal Neuropathy Has associated chemicals Has associated genes
  Giant Axonal Neuropathy, Autosomal Dominant Has associated chemicals Has associated genes