Details of Disease

General Information of Disease (ID: DISYWZTH)

• Disease Name: Charcot-Marie-Tooth disease dominant intermediate D
• Synonyms: MPZ-related intermediate Charcot-Marie-Tooth neuropathy; Di-Cmtd; Charcot Marie Tooth disease dominant intermediate 3; Charcot-Marie-Tooth disease, dominant intermediate D; Charcot-Marie-Tooth neuropathy, dominant Intermediate D; CMTDID; Charcot-Marie-Tooth disease dominant intermediate type D; autosomal dominant intermediate Charcot-Marie-Tooth disease type D; Charcot-Marie-Tooth neuropathy dominant intermediate D; DI-CMTD; Charcot-Marie-Tooth disease, dominant Intermediate type D; MPZ Charcot-Marie-Tooth disease; Charcot-Marie-Tooth disease caused by mutation in MPZ
• Definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both axonal degeneration and demyelination without onion bulbs in nerve biopsies. It presents with usual Charcot-Marie-Tooth disease clinical features of variable severity (progressive muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings in some of the families include debilitating neuropathic pain and mild postural/kinetic upper limb tremor.
• Disease Hierarchy:
  DIS3BT2L: Charcot marie tooth disease
  DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease
  DISYWZTH: Charcot-Marie-Tooth disease dominant intermediate D
• Disease Identifiers:
  MONDO ID: MONDO_0011909
  MESH ID: C564333
  UMLS CUI: C1843075
  OMIM ID: 607791
  MedGen ID: 334318
  Orphanet ID: 100046
  SNOMED CT ID: 765747004

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
MPZ	OTAR2YXH	Supportive	Autosomal dominant	[1]

References

• [1] Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 1999 Aug;67(2):174-9. doi: 10.1136/jnnp.67.2.174.