Details of Disease | DrugMAP

General Information of Disease (ID: DIS3H1TR)

Disease Name	Giant axonal neuropathy 1
Synonyms	GAN1; giant axonal neuropathy 1, autosomal recessive; neuropathy, giant axonal; giant axonal neuropathy 1; giant axonal neuropathy-1; giant axonal neuropathy caused by mutation in GAN; giant axonal neuropathy caused by mutation in gan; gan giant axonal neuropathy; gan; GAN giant axonal neuropathy; giant axonal neuropathy type 1
Definition	Giant axonal neuropathy (GAN) is a degenerative disorder that is characterized by a progressive motor and sensitive peripheral and central nervous system neuropathy.
Disease Hierarchy	DIS17IIR: Giant axonal neuropathy DIS3H1TR: Giant axonal neuropathy 1
Disease Identifiers	MONDO ID MONDO_0009749 MESH ID D056768 UMLS CUI C1850386 OMIM ID 256850 MedGen ID 376775 Orphanet ID 643

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAN	TT6WNG2	Definitive	Autosomal recessive	[1]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[2]
MAP1S	OT5WUD4C	Strong	Biomarker	[3]
PRPH	OT6VUH78	Strong	Altered Expression	[4]
GAN	OT055MEP	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	The instability of the BTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test.Acta Neuropathol Commun. 2014 Apr 24;2:47. doi: 10.1186/2051-5960-2-47.
3	Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.Hum Mol Genet. 2006 May 1;15(9):1451-63. doi: 10.1093/hmg/ddl069. Epub 2006 Mar 24.
4	Intermediate filament protein accumulation in motor neurons derived from giant axonal neuropathy iPSCs rescued by restoration of gigaxonin.Hum Mol Genet. 2015 Mar 1;24(5):1420-31. doi: 10.1093/hmg/ddu556. Epub 2014 Nov 4.