Details of Disease

General Information of Disease (ID: DISL4IGJ)

• Disease Name: Charcot-Marie-Tooth disease, demyelinating, type 1G
• Synonyms: CMT1G; Charcot-Marie-Tooth disease, demyelinating, type 1G; PMP2-related Charcot-Marie-Tooth disease type 1
• Definition: A rare autosomal dominant hereditary demyelinating motor and sensory neuropathy characterized by progressive distal muscle weakness and atrophy, distal sensory impairment, and decreased or absent reflexes in the affected limbs, with an onset in the first or second decade of life. Median motor nerve conduction velocities are typically less than 38 m/s. Patients often have foot deformities. Sural nerve biopsy shows decrease in myelinated fibers, myelin abnormalities, and onion bulb formation. Fatty replacement of muscle tissue predominantly affects the anterior and lateral compartment of the lower legs.
• Disease Hierarchy:
  DIS3BT2L: Charcot marie tooth disease
  DIS3HIWD: Autosomal dominant disease
  DISL4IGJ: Charcot-Marie-Tooth disease, demyelinating, type 1G
• Disease Identifiers:
  MONDO ID: MONDO_0033135
  UMLS CUI: C4748940
  OMIM ID: 618279
  MedGen ID: 1648290
  Orphanet ID: 476394

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
PMP2	OTKYV2NE	Strong	Autosomal dominant	[1]

References

• [1] Charcot-Marie-Tooth Neuropathy Type 1 C RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY. 1998 Aug 31 [updated 2015 Mar 26]. 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.