Details of Disease

General Information of Disease (ID: DISDOX5Z)

• Disease Name: Charcot-Marie-Tooth disease recessive intermediate C
• Synonyms: Charcot-Marie-Tooth disease, recessive intermediate C; Charcot-Marie-Tooth neuropathy, recessive Intermediate C; Charcot-Marie-Tooth disease recessive intermediate type C; RI-CMTC; autosomal recessive intermediate Charcot-Marie-Tooth disease type C; CMTRIC; Charcot-Marie-Tooth disease caused by mutation in PLEKHG5; RI-CMT type C; Charcot-Marie-Tooth disease, recessive Intermediate type C; PLEKHG5 Charcot-Marie-Tooth disease
• Definition: Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy.
• Disease Hierarchy:
  DIS3BT2L: Charcot marie tooth disease
  DIS468CE: Autosomal recessive intermediate Charcot-Marie-Tooth disease
  DISDOX5Z: Charcot-Marie-Tooth disease recessive intermediate C
• Disease Identifiers:
  MONDO ID: MONDO_0014154
  UMLS CUI: C3809309
  OMIM ID: 615376
  MedGen ID: 815639
  Orphanet ID: 369867

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
PLEKHG5	OTL0S21W	Strong	Autosomal recessive	[1]

References

• [1] PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease. Hum Mol Genet. 2013 Oct 15;22(20):4224-32. doi: 10.1093/hmg/ddt274. Epub 2013 Jun 17.