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giant axonal neuropathy 2

Disease Summary
Associated Targets (1)
Tbio

1


GARD Rare
Mondo Description Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.
Uniprot Description An autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment with lower extremity muscle weakness and atrophy after the second decade. Clinical features include foot deformities apparent in childhood, and cardiomyopathy in severely affected individuals. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation.
Mondo Term and Equivalent IDs
MONDO:0012411:  giant axonal neuropathy 2
GARD:0012447: 
Orphanet:401964: 
UMLS:C1864695: 
UMLS:CN226146: