Symbol
| WND
|
Location
| 13q14.3
|
Name
|
Wilson disease |
Other name(s)
|
hepatolenticular degeneration |
Corresponding gene
|
ATP7B
|
Other symbol(s)
| WD
|
Main clinical features
|
progressive accumulation of copper in liver and brain, resulting in chronic liver disease and neurological impairment
with a reduced sweat production but unaltered sweat copper concentration |
Genetic determination
| autosomal recessive |
Function/system disorder
| metabolism/metal |
Type
| disease
|
Name
| copper binding P-type ATPase 2 (ATP7B)
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
missense
|  
|  
| mutation H1069Q(His 1069Gln), or Met645Arg, the most frequent in caucasians (30p100) causing mild form
| nonsense
|  
| abnormal protein/loss of function
| causing severe phenotypic expression (Leu 1120ter or Gln 111ter)
| abnormal splicing
|  
| unknown
| 1708-1G>A
| frameshift
|  
|  
| associated with severe phenotype
| missense
|  
|  
| C271 stop, prevalent mutation (19p100)
| |
Genotype/Phenotype correlations
|
frameshift and nonsense mutations are associated with a severe phenotype
missense mutation associated to milder form |