Details of Disease

General Information of Disease (ID: DIS56F9A)

Disease Name Charcot-Marie-Tooth disease type 1
Synonyms Charcot-Marie-Tooth type 1; autosomal dominant demyelinating Charcot-Marie-Tooth disease; Charcot-Marie-Tooth neuropathy type 1; CMT1; hereditary motor and sensory neuropathy type 1
Definition
Charcot-Marie-Tooth disease type 1 (CMT1) is a group of autosomal dominant demyelinating peripheral neuropathies characterized by distal weakness and atrophy, sensory loss, foot deformities, and slow nerve conduction velocity.
Disease Hierarchy
DIS3BT2L: Charcot marie tooth disease
DIS56F9A: Charcot-Marie-Tooth disease type 1
Disease Identifiers
MONDO ID
MONDO_0019011
MESH ID
D002607
UMLS CUI
C0751036
MedGen ID
155486
Orphanet ID
65753
SNOMED CT ID
398040009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
GJB1 TTSJIRP Strong Genetic Variation [1]
RNMT TTG45HY Strong Genetic Variation [2]
TRPV4 TTKP2SU Strong Biomarker [3]
------------------------------------------------------------------------------------
This Disease Is Related to 13 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC25A46 OTFEV9SV Disputed Biomarker [4]
EGR2 OTAVQ78J moderate CausalMutation [5]
MPZ OTAR2YXH moderate Biomarker [6]
FIG4 OT501PY9 Strong Biomarker [7]
HOXD10 OT0NOWU2 Strong Biomarker [8]
KIF1B OTI1XQTO Strong Biomarker [9]
LITAF OTT5JX1F Strong Biomarker [10]
LRSAM1 OTOKWR6C Strong Biomarker [11]
MAD2L1BP OT2O2IUJ Strong Biomarker [9]
MORC2 OT52A8BJ Strong Biomarker [12]
PMP2 OTKYV2NE Strong Genetic Variation [13]
PMP22 OTXWYWCZ Strong Biomarker [14]
PXMP2 OTYHX5MI Strong Genetic Variation [15]
------------------------------------------------------------------------------------
⏷ Show the Full List of 13 DOT(s)

References

1 Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.J Neurol. 2001 May;248(5):410-5. doi: 10.1007/s004150170183.
2 PMP22 Thr118Met is not a clinically relevant CMT1 marker.J Neurol. 2000 Sep;247(9):696-700. doi: 10.1007/s004150070113.
3 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.
4 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.
5 Survey of variation in human transcription factors reveals prevalent DNA binding changes.Science. 2016 Mar 25;351(6280):1450-1454. doi: 10.1126/science.aad2257. Epub 2016 Mar 24.
6 A nonsense mutation in myelin protein zero causes congenital hypomyelination neuropathy through altered P0 membrane targeting and gain of abnormal function.Hum Mol Genet. 2019 Jan 1;28(1):124-132. doi: 10.1093/hmg/ddy336.
7 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.
8 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.
9 Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies.Hum Mutat. 1999;13(1):11-28. doi: 10.1002/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A.
10 A novel LITAF/SIMPLE mutation within a family with a demyelinating form of Charcot-Marie-Tooth disease.J Neurol Sci. 2014 Aug 15;343(1-2):183-6. doi: 10.1016/j.jns.2014.05.029. Epub 2014 May 22.
11 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.
12 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.
13 De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Brain. 2016 Jun;139(Pt 6):1649-56. doi: 10.1093/brain/aww055. Epub 2016 Mar 23.
14 PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1.Muscle Nerve. 2015 Jul;52(1):69-75. doi: 10.1002/mus.24550. Epub 2015 Mar 31.
15 Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative, quantitative, genotypical, and familial analysis of 175 patients.Spine (Phila Pa 1976). 2007 Oct 15;32(22):2502-8. doi: 10.1097/BRS.0b013e3181573d4e.