Terminology Service for NFDI4Health

Giant Axonal Neuropathy

Go to external page http://purl.obolibrary.org/obo/NCIT_C84728


A rare inherited disorder affecting the neurofilaments. It is caused by mutations in the GAN gene. It is characterized by the presence of abnormally large nerve cell axons. Signs and symptoms include difficulty walking, sensory disturbances, lack of motor coordination and abnormal reflexes in the limbs. [ ]

Term info

Label

Giant Axonal Neuropathy

Synonyms
  • Giant Axonal Neuropathy
Preferred Name

Giant Axonal Neuropathy

Semantic Type

Disease or Syndrome

UMLS CUI

C1850386

code

C84728