Details of Disease | DrugMAP

General Information of Disease (ID: DIS27OAR)

Disease Name	Hereditary motor and sensory neuropathy type 6
Synonyms	CMT6; Charcot-Marie-Tooth disease type 6; hereditary motor and sensory neuropathy type 6; peripheral neuropathy and optic atrophy
Disease Hierarchy	DISR0X2K: Hereditary motor and sensory neuropathy DIS27OAR: Hereditary motor and sensory neuropathy type 6
Disease Identifiers	MONDO ID MONDO_0019551 MESH ID C562851 UMLS CUI C0393807 OMIM ID 601152 MedGen ID 140747 Orphanet ID 90120 SNOMED CT ID 128203003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MFN2	OTPYN8A3	Supportive	Autosomal dominant	[1]
SLC25A46	OTFEV9SV	Supportive	Autosomal dominant	[2]
KIF1B	OTI1XQTO	Strong	Genetic Variation	[3]
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References

1	Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol. 2006 Feb;59(2):276-81. doi: 10.1002/ana.20797.
2	Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
3	Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders.Biochim Biophys Acta. 2009 May;1787(5):518-28. doi: 10.1016/j.bbabio.2009.02.024. Epub 2009 Mar 5.