Details of Disease | DrugMAP

General Information of Disease (ID: DISB51V1)

Disease Name	Charcot-Marie-Tooth disease type 1F
Synonyms	Charcot-Marie-Tooth neuropathy, type 1F; CMT 1F; Charcot Marie Tooth disease type 1F; Charcot-Marie-Tooth disease, demyelinating, type 1F; NEFL Charcot-Marie-Tooth disease type 1; Charcot-Marie-Tooth neuropathy type 1F; Charcot-Marie-Tooth disease, type 1F; CMT1F; Charcot-Marie-Tooth disease type 1 caused by mutation in NEFL
Definition	A form of CMT1, with a variable clinical presentation that can range from severe impairment with onset in childhood to mild impairment appearing during adulthood. CMT1F is characterized by a progressive peripheral motor and sensory neuropathy with distal paresis in the lower limbs that varies from mild weakness to complete paralysis of the distal muscle groups, absent tendon reflexes and reduced nerve conduction. CMT1F represents the ''demyelinating'' form of CMT2E and is caused by mutations in the NEFL gene (8p21.2)..
Disease Hierarchy	DIS56F9A: Charcot-Marie-Tooth disease type 1 DISB51V1: Charcot-Marie-Tooth disease type 1F
Disease Identifiers	MONDO ID MONDO_0011902 MESH ID C537987 UMLS CUI C1843164 OMIM ID 607734 MedGen ID 334337 Orphanet ID 101085 SNOMED CT ID 719980006

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
NEFL	OTQESJV4	Strong	Autosomal recessive	[1]
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References

1	A novel duplication/insertion mutation of NEFL in a patient with Charcot-Marie-Tooth disease. Am J Med Genet A. 2006 May 1;140(9):1021-5. doi: 10.1002/ajmg.a.31242.