Details of Disease

General Information of Disease (ID: DISUUDF2)

• Disease Name: Charcot-Marie-Tooth disease dominant intermediate F
• Synonyms: GNB4-related intermediate Charcot-Marie-Tooth neuropathy; DI-CMTF; Charcot-Marie-Tooth disease, dominant intermediate F; Charcot-Marie-Tooth disease dominant intermediate type F; Charcot-Marie-Tooth disease, dominant Intermediate type F; CMTDIF; autosomal dominant intermediate Charcot-Marie-Tooth disease type F
• Definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F is a rare hereditary motor and sensory neuropathy disorder characterized by the typical CMT phenotype (slowly progressive distal muscle atrophy and weakness in upper and lower limbs, distal sensory loss in extremities, reduced or absent deep tendon reflexes and foot deformities) with nerve biopsy demonstrating demyelinating and axonal changes and nerve conduction velocities varying from the demyelinating to axonal range.|Not in the OMIM series.
• Disease Hierarchy:
  DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease
  DISUUDF2: Charcot-Marie-Tooth disease dominant intermediate F
• Disease Identifiers:
  MONDO ID: MONDO_0014074
  UMLS CUI: C4749463
  OMIM ID: 615185
  MedGen ID: 1666273
  Orphanet ID: 352670
  SNOMED CT ID: 770759001

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
GNB4	OTC1GPHA	Strong	Autosomal dominant	[1]

References

• [1] Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot-Marie-Tooth disease. Am J Hum Genet. 2013 Mar 7;92(3):422-30. doi: 10.1016/j.ajhg.2013.01.014. Epub 2013 Feb 21.