Details of Disease

General Information of Disease (ID: DISOA8G6)

• Disease Name: Charcot-Marie-Tooth disease type 1E
• Synonyms: CMT 1E; Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant; Charcot-Marie-Tooth disease, demyelinating, type 1E; Charcot Marie Tooth disease type 1E; Charcot-Marie-Tooth disease and deafness; Charcot-Marie-Tooth disease demyelinating type 1E; Charcot-Marie-Tooth disease-deafness syndrome; autosomal dominant Charcot-Marie-Tooth neuropathy and deafness; Charcot-Marie-Tooth disease-deafness; CMT1E; Charcot-Marie-Tooth disease, type 1E
• Definition: A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
• Disease Hierarchy:
  DIS56F9A: Charcot-Marie-Tooth disease type 1
  DISOA8G6: Charcot-Marie-Tooth disease type 1E
• Disease Identifiers:
  MONDO ID: MONDO_0007311
  MESH ID: C566136
  UMLS CUI: C3495591
  OMIM ID: 118300
  MedGen ID: 501212
  Orphanet ID: 90658

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PMP22	OTXWYWCZ	Strong	Autosomal dominant	[1]

References

• [1] A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet. 1999 Jun;64(6):1580-93. doi: 10.1086/302420.