Details of Disease

General Information of Disease (ID: DISTREJ7)

• Disease Name: Charcot-Marie-Tooth disease type 1C
• Synonyms: Charcot Marie Tooth disease type 1C; Charcot-Marie-Tooth neuropathy, type 1C; CMT 1C; CMT, slow nerve conduction type C; neuropathy, hereditary motor and sensory, type 1C; HMSN 1C; Charcot-Marie-Tooth disease, demyelinating, type 1C; HMSN IC; CMT slow nerve conduction type C; Charcot-Marie-Tooth disease type 1 caused by mutation in LITAF; Charcot-Marie-Tooth disease, type 1C; CMT1C; neuropathy hereditary motor and sensory type 1C; HMSN1C; Charcot-Marie-Tooth neuropathy type 1C; LITAF Charcot-Marie-Tooth disease type 1
• Definition: Any Charcot-Marie-Tooth disease type 1 in which the cause of the disease is a mutation in the LITAF gene.
• Disease Hierarchy:
  DIS56F9A: Charcot-Marie-Tooth disease type 1
  DISTREJ7: Charcot-Marie-Tooth disease type 1C
• Disease Identifiers:
  MONDO ID: MONDO_0010995
  MESH ID: C537984
  UMLS CUI: C0270913
  OMIM ID: 601098
  MedGen ID: 75728
  Orphanet ID: 101083
  SNOMED CT ID: 4183003

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
RNMT	TTG45HY	Strong	Biomarker	[1]
TSG101	TTHU7JA	Strong	Genetic Variation	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LITAF	OTT5JX1F	Strong	Autosomal dominant	[3]

References

• [1] Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.Mol Biol Cell. 2013 Jun;24(11):1619-37, S1-3. doi: 10.1091/mbc.E12-07-0544. Epub 2013 Apr 10.
• [2] SIMPLE interacts with NEDD4 and TSG101: evidence for a role in lysosomal sorting and implications for Charcot-Marie-Tooth disease.J Neurosci Res. 2005 Oct 1;82(1):43-50. doi: 10.1002/jnr.20628.
• [3] Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet. 2002 Jan;70(1):244-50. doi: 10.1086/337943. Epub 2001 Nov 16.