Details of Disease | DrugMAP

General Information of Disease (ID: DISGLJ7M)

Disease Name	Charcot-Marie-Tooth disease type 4D
Synonyms	Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D; Charcot-Marie-Tooth disease, type 4D; NMSL; Charcot-Marie-Tooth neuropathy, type 4D; neuropathy, hereditary motor and sensory, Lom type; hereditary motor ABD sensory neuropathy Lom type; HMSN Lom type; Charcot-Marie-Tooth disease type 4D; HMSN-Lom; hereditary motor and sensory neuropathy, Lom type; HMSN, Lom type; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D; HMSNL; NDRG1 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4 caused by mutation in NDRG1; HMSN4D; CMT4D; Charcot-Marie-Tooth neuropathy type 4D
Definition	Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.
Disease Hierarchy	DISM8IZN: Charcot-Marie-Tooth disease type 4 DISGLJ7M: Charcot-Marie-Tooth disease type 4D
Disease Identifiers	MONDO ID MONDO_0011085 MESH ID C535716 UMLS CUI C1832334 OMIM ID 601455 MedGen ID 371304 Orphanet ID 99950 SNOMED CT ID 715798007

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
NDRG1	OTVO66BO	Definitive	Autosomal recessive	[1]
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References

1	N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am J Hum Genet. 2000 Jul;67(1):47-58. doi: 10.1086/302978. Epub 2000 May 30.