Details of Disease | DrugMAP

General Information of Disease (ID: DISVZMQ8)

Disease Name	Charcot-Marie-Tooth disease type 2E
Synonyms	CMT 2E; Charcot Marie Tooth disease type 2E; Charcot-Marie-Tooth disease, axonal, type 2E; Charcot-Marie-Tooth neuropathy, type 2E; Charcot-Marie-Tooth disease type 2 caused by mutation in NEFL; NEFL Charcot-Marie-Tooth disease type 2; CMT2E; Charcot-Marie-Tooth neuropathy type 2E; autosomal dominant Charcot-Marie-Tooth disease type 2E; Charcot-Marie-Tooth disease, type 2E
Definition	Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.
Disease Hierarchy	DISR30O9: Charcot-Marie-Tooth disease type 2 DISVZMQ8: Charcot-Marie-Tooth disease type 2E
Disease Identifiers	MONDO ID MONDO_0011894 MESH ID C537994 UMLS CUI C1843225 OMIM ID 607684 MedGen ID 375127 Orphanet ID 99939 SNOMED CT ID 717012004

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	Supportive	Autosomal dominant	[1]
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References

1	Charcot-Marie-Tooth Neuropathy Type 2 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Sep 24 [updated 2016 Apr 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.