|
Disease name
|
데제린-소타스 증후군
Dejerine-Sottas syndrome
|
|
|
Marker gene
|
|
Gene symbol
|
Chromosome location
|
Protein name
|
|
EGR2
|
10q21.2 |
Early growth response protein 2 |
|
MPZ
|
1q23.3 |
Myelin protein P0 |
|
PMP22
|
17p12 |
Peripheral myelin protein 22 |
|
|
|
Inheritance
|
|
산발성, 상염색체 우성, 상염색체 열성 |
|
|
Age of onset
|
|
신생아기, 영아기 |
|
|
ICD 10 code
|
|
G60.0 |
|
|
MIM number
|
|
145900
|
|
|
Synonym
|
|
Charcot-Marie-Tooth disease type 3 |
|
HMSN 3 |
|
Hereditary motor and sensory neuropathy type 3 |
|
Hypertrophic neuropathy of infancy |
|
|
Summary
|
|
under development. |
|