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GENATLAS PHENOTYPE
last update : 21-02-2018
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 (213 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
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein cause premature termination
    nonsense   truncated protein cause premature termination (PMID: 29336782)
    Remark(s)