Details of Disease | DrugMAP

General Information of Disease (ID: DISUVC3Y)

Disease Name	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
Synonyms	Charcot-Marie-Tooth Disease, Type 6C; neuropathy, hereditary motor and sensory, type VIc, with optic atrophy; CMT6C; HMSN6C; HMSN 6C; CMT 6C
Disease Hierarchy	DIS27OAR: Hereditary motor and sensory neuropathy type 6 DISUVC3Y: Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy
Disease Identifiers	MONDO ID MONDO_0032792 UMLS CUI C5193137 OMIM ID 618511 MedGen ID 1680245

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
PDXK	TTXI3KF	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PDXK	OT40AJ5J	Strong	Autosomal recessive	[1]
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References

1	PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1.