Details of Disease

General Information of Disease (ID: DIS0SF7F)

• Disease Name: Charcot-Marie-Tooth disease type 4C
• Synonyms: Charcot-Marie-Tooth neuropathy, type 4C; Charcot Marie Tooth disease type 4C; Charcot-Marie-Tooth disease, type 4C; Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C; CMT 4C; CMT4C; autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth disease type 4C; Charcot-Marie-Tooth neuropathy type 4C; Charcot-Marie-Tooth disease type 4 caused by mutation in SH3TC2; SH3TC2 Charcot-Marie-Tooth disease type 4
• Definition: Charcot-Marie-Tooth disease type 4C (CMT4C) is a subtype of Charcot-Marie-Tooth type 4 characterized by childhood or adolescent-onset of a relatively mild, demyelinating sensorimotor neuropathy that contrasts with a severe, rapidly progressing, early-onset scoliosis, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and often foot deformity). A wide spectrum of nerve conduction velocities are observed and cranial nerve involvement and kyphoscoliosis have also been reported.
• Disease Hierarchy:
  DISM8IZN: Charcot-Marie-Tooth disease type 4
  DIS0SF7F: Charcot-Marie-Tooth disease type 4C
• Disease Identifiers:
  MONDO ID: MONDO_0011113
  MESH ID: C535423
  UMLS CUI: C1866636
  OMIM ID: 601596
  MedGen ID: 356581
  Orphanet ID: 99949
  SNOMED CT ID: 715797002

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KIF20A	OTXOQHE0	Strong	Genetic Variation	[1]
RAB11A	OTC4FW0J	Strong	Altered Expression	[2]
SH3TC2	OTJ6XY2A	Definitive	Autosomal recessive	[3]

References

• [1] The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C.Int J Mol Med. 2003 Jan;11(1):45-7.
• [2] Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.Biochim Biophys Acta. 2016 Jul;1862(7):1279-90. doi: 10.1016/j.bbadis.2016.04.003. Epub 2016 Apr 9.
• [3] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.