Details of Disease | DrugMAP

General Information of Disease (ID: DISPT2N2)

Disease Name	Charcot-Marie-Tooth disease type 4G
Synonyms	Charcot-Marie-Tooth disease, autosomal recessive, type 4G; neuropathy, hereditary motor and sensory, Russe type; Charcot-Marie-Tooth disease, type 4G; Charcot-Marie-Tooth neuropathy, type 4G; HMSNR; hereditary motor and sensory neuropathy Russe type; CMT4G; hereditary motor and sensory neuropathy, Russe type; HK1 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth neuropathy type 4G; Charcot-Marie-Tooth disease type 4 caused by mutation in HK1; autosomal recessive Charcot-Marie-Tooth disease type 4G
Definition	Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies.
Disease Hierarchy	DISM8IZN: Charcot-Marie-Tooth disease type 4 DISVNBSJ: Motor peripheral neuropathy DIS30PPZ: Disorder of glycolysis DISPT2N2: Charcot-Marie-Tooth disease type 4G
Disease Identifiers	MONDO ID MONDO_0011534 MESH ID C535813 UMLS CUI C1854449 OMIM ID 605285 MedGen ID 343122 Orphanet ID 99953 SNOMED CT ID 715799004

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HK1	DEDMAGE	Supportive	Autosomal recessive	[1]
HK1	DEDMAGE	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HK1	OTMPHE8O	Supportive	Autosomal recessive	[1]
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References

1	A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy -- Russe (HMSNR). Eur J Hum Genet. 2009 Dec;17(12):1606-14. doi: 10.1038/ejhg.2009.99. Epub 2009 Jun 17.
2	Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017 Feb 23;542(7642):433-438. doi: 10.1038/nature21062. Epub 2017 Jan 25.