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GENATLAS PHENOTYPE
last update : 09-09-2010
Symbol ALMS1
Location 2p13.1
Name Alström disease
Corresponding gene ALMS1
related resource Retinal Information Network
Other symbol(s) ALSTD, ALMS
Main clinical features
  • ciliopathy characterized by progressive sensory dysfunction
  • characterized by nephronophtisis, progressive visual impairment presenting in the first six months of life and advancing to a cone-rod dystrophy and to blindness in the secund decade
  • neurosensory degeneration, metabolic defects and cardiomyopathy
  • associated with diabetes mellitus secundary to insulin resistance, truncal obesity and acanthosis nigricans before 5 years, small external genitalia in males, short stature evident by the age of 8, neurosensory deafness late in the first decade, renal failure frequently developing during the third decade and unusual cause of death, finally a dilated cardiomyopathy occuring at any age and often improving spontaneously
  • Genetic determination autosomal recessive
    Function/system disorder ear
    kidney and urinary tract
    eye
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    nonsense   truncated protein  
    frameshift   truncated protein  
    Remark(s)