Details of Disease | DrugMAP

General Information of Disease (ID: DIS4WGVV)

Disease Name	Giant axonal neuropathy 2
Synonyms	GAN2; autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons; giant axonal neuropathy 2, autosomal dominant; DCAF8 giant axonal neuropathy; giant axonal neuropathy caused by mutation in DCAF8; HMSN2 with giant axons; giant axonal neuropathy type 2; CMT2 with giant axons; autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
Definition	Any giant axonal neuropathy in which the cause of the disease is a mutation in the DCAF8 gene.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DIS17IIR: Giant axonal neuropathy DIS4WGVV: Giant axonal neuropathy 2
Disease Identifiers	MONDO ID MONDO_0012411 MESH ID C566444 UMLS CUI C1864695 OMIM ID 610100 MedGen ID 400593 Orphanet ID 401964

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DCAF8	OT3VFSLG	Supportive	Autosomal dominant	[1]
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References

1	Ubiquitin ligase defect by DCAF8 mutation causes HMSN2 with giant axons. Neurology. 2014 Mar 11;82(10):873-8. doi: 10.1212/WNL.0000000000000206. Epub 2014 Feb 5.