Details of Disease

General Information of Disease (ID: DIS7PXQ7)

• Disease Name: Charcot-Marie-Tooth disease type 4B2
• Synonyms: Charcot-Marie-Tooth disease, type 4B2; CMT 4B2; Charcot-Marie-Tooth neuropathy, type 4B2; Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma; Charcot Marie Tooth disease type 4B2; Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma; Charcot-Marie-Tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4B2; CMT4B2; Charcot-Marie-Tooth disease type 4B2; SBF2 Charcot-Marie-Tooth disease type 4; Charcot-Marie-Tooth disease type 4 caused by mutation in SBF2; Charcot-Marie-Tooth neuropathy type 4B2; autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2
• Definition: Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.
• Disease Hierarchy:
  DISM8IZN: Charcot-Marie-Tooth disease type 4
  DIS7PXQ7: Charcot-Marie-Tooth disease type 4B2
• Disease Identifiers:
  MONDO ID: MONDO_0011475
  MESH ID: C535421
  UMLS CUI: C1858278
  OMIM ID: 604563
  MedGen ID: 346869
  Orphanet ID: 99956
  SNOMED CT ID: 715800000

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
MTM1	TTY2TCU	Strong	Biomarker	[1]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MTMR2	OTNCYGBP	Strong	Biomarker	[2]
SBF2	OTBB8NO8	Definitive	Autosomal recessive	[3]

References

• [1] Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.Hum Mol Genet. 2003 Feb 1;12(3):349-56. doi: 10.1093/hmg/ddg030.
• [2] An In Vitro Model of Charcot-Marie-Tooth Disease Type 4B2 Provides Insight Into the Roles of MTMR13 and MTMR2 in Schwann Cell Myelination.ASN Neuro. 2018 Jan-Dec;10:1759091418803282. doi: 10.1177/1759091418803282.
• [3] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.