Details of Disease

General Information of Disease (ID: DISJRS1V)

• Disease Name: Charcot-Marie-Tooth disease type 1B
• Synonyms: hereditary motor and sensory neuropathy 1; Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy; CMT 1B; Charcot-Marie-Tooth disease, demyelinating, type 1B; Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B; hereditary motor and sensory neuropathy 1B; Charcot-Marie-Tooth neuropathy, type 1B; HMSN1; HMSN 1B; Charcot Marie Tooth disease type 1B; Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy; Charcot-Marie-Tooth disease type 1 caused by mutation in MPZ; autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B; Charcot-Marie-Tooth disease, type 1B; HMSN IB; MPZ Charcot-Marie-Tooth disease type 1; Charcot-Marie-Tooth neuropathy type 1B; HMSN1B; CMT1B; hereditary motor and sensory neuropathy IB
• Definition: A sensorineural peripheral polyneuropathy affecting approximately 1 in 2,500 individuals, and is the most common inherited disorder of the peripheral nervous system. Autosomal dominant, autosomal recessive, and X-linked forms have been recognized.
• Disease Hierarchy:
  DIS56F9A: Charcot-Marie-Tooth disease type 1
  DISYWZTH: Charcot-Marie-Tooth disease dominant intermediate D
  DISJRS1V: Charcot-Marie-Tooth disease type 1B
• Disease Identifiers:
  MONDO ID: MONDO_0007307
  MESH ID: D002607
  UMLS CUI: C0270912
  OMIM ID: 118200
  MedGen ID: 124377
  Orphanet ID: 101082
  SNOMED CT ID: 42986003

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
TRPV4	TTKP2SU	Strong	Biomarker	[1]

This Disease Is Related to 9 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PMP22	OTXWYWCZ	Limited	Biomarker	[2]
SLC25A46	OTFEV9SV	Disputed	Biomarker	[3]
FIG4	OT501PY9	Strong	Biomarker	[4]
HOXD10	OT0NOWU2	Strong	Biomarker	[5]
LRSAM1	OTOKWR6C	Strong	Biomarker	[6]
MORC2	OT52A8BJ	Strong	Biomarker	[7]
MPZ	OTAR2YXH	Definitive	Autosomal dominant	[8]
MTMR2	OTNCYGBP	Definitive	Biomarker	[9]
SBF2	OTBB8NO8	Definitive	Biomarker	[9]

References

• [1] Axonal neuropathy-associated TRPV4 regulates neurotrophic factor-derived axonal growth.J Biol Chem. 2012 Feb 17;287(8):6014-24. doi: 10.1074/jbc.M111.316315. Epub 2011 Dec 20.
• [2] Ascorbic acid for Charcot-Marie-Tooth disease type 1A in children: a randomised, double-blind, placebo-controlled, safety and efficacy trial.Lancet Neurol. 2009 Jun;8(6):537-44. doi: 10.1016/S1474-4422(09)70108-5. Epub 2009 May 6.
• [3] Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder. Nat Genet. 2015 Aug;47(8):926-32. doi: 10.1038/ng.3354. Epub 2015 Jul 13.
• [4] Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature. 2007 Jul 5;448(7149):68-72. doi: 10.1038/nature05876. Epub 2007 Jun 17.
• [5] A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. Am J Hum Genet. 2004 Jul;75(1):92-6. doi: 10.1086/422015. Epub 2004 May 14.
• [6] Mutation in the gene encoding ubiquitin ligase LRSAM1 in patients with Charcot-Marie-Tooth disease. PLoS Genet. 2010 Aug 26;6(8):e1001081. doi: 10.1371/journal.pgen.1001081.
• [7] Hyperactivation of HUSH complex function by Charcot-Marie-Tooth disease mutation in MORC2.Nat Genet. 2017 Jul;49(7):1035-1044. doi: 10.1038/ng.3878. Epub 2017 Jun 5.
• [8] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
• [9] Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.Neuropathology. 2015 Jun;35(3):254-9. doi: 10.1111/neup.12179. Epub 2014 Nov 11.