Symbol
| ACDC
|
Location
| 7p15.3
|
Name
|
Amyloidosis cutis dyschromica |
Corresponding gene
|
GPNMB
|
Main clinical features
|
primary cutaneous amyloidosis characterized by generalized hyperpigmentation mottled with small hypopigmented macules on the trunks and limbs
mean age of onset was 6 years (2–13 years)
skin dyschromia and the affected area gradually increased with age and then stabilized; with generalized hyperpigmentation mottled with small hypopigmented macules or patches distributed over the trunks and limbs in a symmetrical pattern |
Genetic determination
| autosomal recessive |
Function/system disorder
| dermatology |
Type
| disease
|
Gene mutation | Chromosome rearrangement | Effect | Comments |
|
---|
nonsense
|  
| truncated protein
| cause premature termination
| nonsense
|  
| truncated protein
| cause premature termination (PMID: 29336782)
| |