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Ontology Browser

Term:
Giant Axonal Neuropathy (DOID:9000462)
Annotations: Rat: (10) Mouse: (10) Human: (10) Chinchilla: (10) Bonobo: (10) Dog: (10) Squirrel: (10) Pig: (10)
Parent Terms Term With Siblings Child Terms
Alstrom syndrome  
Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy +   
Cardioneuromyopathy with Hyaline Masses and Nemaline Rods 
Charcot-Marie-Tooth disease +   
Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy 
distal hereditary motor neuronopathy type 7 +   
essential tremor 2  
Giant Axonal Neuropathy +   
Rare 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).
Hagemoser Weinstein Bresnick Syndrome 
Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive 
hereditary neuropathy with liability to pressure palsies  
Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance 
Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive  
hereditary spastic paraplegia +   
Neuropathy, Hereditary Thermosensitive 
Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive 
Refsum disease +   
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis  
Slowed Nerve Conduction Velocity, Autosomal Dominant  
SPOAN syndrome  
Tamari Goodman Syndrome 

Synonyms
Exact Synonyms: GAN ;   Giant Axonal Neuropathy (GAN)
Primary IDs: MESH:D056768
Alternate IDs: RDO:0007756
Xrefs: NCI:C84728 ;   OMIM:PS256850
Definition Sources: MESH:D056768

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