Details of Disease

General Information of Disease (ID: DIS98MAN)

• Disease Name: Charcot-Marie-Tooth disease dominant intermediate B
• Synonyms: Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M; Charcot-Marie-Tooth neuropathy, dominant Intermediate B, with neutropenia; Di-CMTB; Charcot-Marie-Tooth disease, axonal, type 2M; Charcot-Marie-Tooth disease, dominant Intermediate B, with neutropenia; Charcot-Marie-Tooth neuropathy, axonal, type 2M; Cmtdi1; DNM2-related intermediate Charcot-Marie-Tooth neuropathy; Charcot-Marie-Tooth disease, dominant intermediate B; Charcot-Marie-Tooth neuropathy, dominant Intermediate B; autosomal dominant intermediate Charcot-Marie-Tooth disease type B; DI-CMTB; Charcot-Marie-Tooth disease dominant intermediate type B; DNM2 Charcot-Marie-Tooth disease; CMTDIB; Charcot-Marie-Tooth neuropathy dominant intermediate B; Charcot-Marie-Tooth disease caused by mutation in DNM2; Charcot-Marie-Tooth disease, axonal type 2M; Charcot-Marie-Tooth disease, dominant Intermediate type B; CMTDI1
• Definition: Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 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 demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.
• Disease Hierarchy:
  DIS3BT2L: Charcot marie tooth disease
  DIS6XNC1: Autosomal dominant intermediate Charcot-Marie-Tooth disease
  DIS98MAN: Charcot-Marie-Tooth disease dominant intermediate B
• Disease Identifiers:
  MONDO ID: MONDO_0011674
  MESH ID: C564703
  UMLS CUI: C1847902
  OMIM ID: 606482
  MedGen ID: 338346
  Orphanet ID: 100044
  SNOMED CT ID: 765745007

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
DNM2	TTVRA5G	Limited	CausalMutation	[1]
DNM2	TTVRA5G	Strong	Autosomal dominant	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DNM2	OTUYU2U3	Strong	Autosomal dominant	[2]

References

• [1] Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w.
• [2] Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet. 2001 Oct;69(4):883-8. doi: 10.1086/323743. Epub 2001 Aug 28.