Details of Disease

General Information of Disease (ID: DISUOVV5)

• Disease Name: Charcot-Marie-Tooth disease type 4F
• Synonyms: Charcot-Marie-Tooth disease, demyelinating, type 4F; Charcot-Marie-Tooth disease type 4 caused by mutation in Prx; PRX Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4 caused by mutation in PRX; Prx Charcot-Marie-Tooth disease type 4; CMT4F; Charcot-Marie-Tooth disease, type 4F
• Definition: Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones.
• Disease Hierarchy:
  DISM8IZN: Charcot-Marie-Tooth disease type 4
  DISUOVV5: Charcot-Marie-Tooth disease type 4F
• Disease Identifiers:
  MONDO ID: MONDO_0013959
  UMLS CUI: C3540453
  OMIM ID: 614895
  MedGen ID: 761704
  Orphanet ID: 99952

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
PRX	OT34Z10B	Strong	Autosomal recessive	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.