Details of Disease

General Information of Disease (ID: DIS60YTM)

• Disease Name: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
• Synonyms: CMT2 due to KIF5A mutation
• Definition: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation is a rare form of axonal peripheral sensorimotor neuropathy characterized by classical CMT2 signs and symptoms (progressive weakness and atrophy of distal limb muscles, mild sensory deficits of position, vibration and pain/temperature, pes cavus, and symmetrically absent or reduced muscle and sensory action potentials with relatively preserved nerve conduction velocities in neurophysiological studies) as well as pyramidal tract involvement (spasticity, hyperreflexia). Spasticity and pain may be the presenting symptoms.
• Disease Hierarchy:
  DISR30O9: Charcot-Marie-Tooth disease type 2
  DIS60YTM: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
• Disease Identifiers:
  MONDO ID: MONDO_0017940
  UMLS CUI: C4707173
  MedGen ID: 1633598
  Orphanet ID: 324611
  SNOMED CT ID: 764730007

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KIF5A	TTCJPAH	Supportive	Autosomal dominant	[1]
KIF5A	TTCJPAH	Strong	GermlineCausalMutation	[1]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIF5A	OT3ETTI6	Supportive	Autosomal dominant	[1]

References

• [1] Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2. Clin Genet. 2012 Aug;82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21.