Disease name

샤르코-마리-투스 병
 Charcot-Marie-Tooth disease

Marker gene

Gene symbol Chromosome location Protein name
LMNA 1q22 Prelamin-A/C
TRPV4 12q24.11 Transient receptor potential cation channel subfamily V member 4
EGR2 10q21.2 Early growth response protein 2
MPZ 1q23.3 Myelin protein P0
GJB1 Xq13.1 Gap junction beta-1 protein
PRPS1 Xq22.3 Ribose-phosphate pyrophosphokinase 1
DNM2 19p13.2 Dynamin-2
FGD4 12p11.21 FYVE, RhoGEF and PH domain-containing protein 4
GARS 7p15 Glycyl-tRNA synthetase
GDAP1 8q21.11 Ganglioside-induced differentiation-associated protein 1
HSPB1 7q11.23 Heat shock protein beta-1
HSPB8 12q24.23 Heat shock protein beta-8
KIF1B 1p36.22 Kinesin-like protein KIF1B
LITAF 16p13.3-p12 Lipopolysaccharide-induced tumor necrosis factor-alpha factor
MFN2 1p36.22 Mitofusin-2
MTMR2 11q21 Myotubularin-related protein 2
NDRG1 8q24.22 Protein NDRG1
NEFL 8p21.2 Neurofilament light polypeptide
PMP22 17p12-p11.2 Peripheral myelin protein 22
PRX 19q13.13-13.2 Periaxin
RAB7A 3q21.3 Ras-related protein Rab-7a
SBF2 11p15.4 Myotubularin-related protein 13
SH3TC2 5q32 SH3 domain and tetratricopeptide repeats-containing protein 2
YARS 1p35.1 Tyrosyl-tRNA synthetase, cytoplasmic

Prevalence

1-5 / 10 000

Inheritance

X 연관 우성, 상염색체 우성, X 연관 열성, 상염색체 열성

Age of onset

다양함

ICD 10 code

G60.0

Synonym

CMT
Charcot-Marie-Tooth hereditary neuropathy

Summary

This term does not characterize a disease