Details of Disease

General Information of Disease (ID: DIS1S5NJ)

• Disease Name: Charcot-Marie-Tooth disease axonal type 2C
• Synonyms: Charcot-Marie-Tooth disease, axonal, type 2C; Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C; hereditary motor and sensory neuropathy, type 2C; Charcot Marie Tooth disease type 2C; CMT 2C; Charcot-Marie-Tooth disease type 2C; HMSN 2 C; hereditary motor and sensory neuropathy 2 C; Charcot-Marie-Tooth neuropathy, type 2C; HMSN 2C; hereditary motor and sensory neuropathy, type IIC; autosomal dominant Charcot-Marie-Tooth disease type 2C; HMSN2C; TRPV4 Charcot-Marie-Tooth disease type 2; CMT2C; autosomal cominant axonal Charcot-Marie-Tooth disease type 2C; hereditary motor and sensory neuropathy type IIc; Charcot-Marie-Tooth neuropathy type 2C; Charcot-Marie-Tooth disease type 2 caused by mutation in TRPV4
• Definition: Autosomal dominant Charcot-Marie-Tooth disease type 2C (CMT2C) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by the association of vocal cord anomalies, impairment of respiratory muscles and sensorineural hearing loss with the distal hands and feet weakness. Onset is between infancy and the 6th decade.
• Disease Hierarchy:
  DISR30O9: Charcot-Marie-Tooth disease type 2
  DISVNBSJ: Motor peripheral neuropathy
  DIS1S5NJ: Charcot-Marie-Tooth disease axonal type 2C
• Disease Identifiers:
  MONDO ID: MONDO_0011633
  MESH ID: C565261
  UMLS CUI: C1853710
  OMIM ID: 606071
  MedGen ID: 342947
  Orphanet ID: 99937
  SNOMED CT ID: 717010007

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
TRPV4	TTKP2SU	Limited	Biomarker	[1]
TRPV4	TTKP2SU	Strong	Autosomal dominant	[2]

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GDAP1	OTQE1O25	Strong	Genetic Variation	[3]
MAD2L1BP	OT2O2IUJ	Strong	Biomarker	[1]
TRPV4	OTPZKQLX	Strong	Autosomal dominant	[2]

References

• [1] Incidence and Clinical Features of TRPV4-Linked Axonal Neuropathies in a USA Cohort of Charcot-Marie-Tooth Disease Type 2.Neuromolecular Med. 2020 Mar;22(1):68-72. doi: 10.1007/s12017-019-08564-4. Epub 2019 Aug 29.
• [2] The gene for HMSN2C maps to 12q23-24: a region of neuromuscular disorders. Neurology. 2003 Apr 8;60(7):1151-6. doi: 10.1212/01.wnl.0000055900.30217.ea.
• [3] A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease.Neurogenetics. 2011 May;12(2):145-53. doi: 10.1007/s10048-011-0276-7. Epub 2011 Mar 2.