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  • ALMS1 gene

  • Alström Syndrome: for professionals

    Alström syndrome is a rare multisystemic disease due to pathogenic variants in the ALMS1 gene. It is characterised by early onset cone-rod dystrophy (usually in childhood), progressive sensorineural hearing loss, childhood-onset obesity and metabolic disorder, and dilated cardiomyopathy. Other features may be present as well.
  • Alström syndrome: for patients

    Alstrom syndrome is a rare multisystemic condition caused by mutations in the ALMS1 gene. It is characterised by progressive sight loss from cone-rod dystrophy, congenital heart problems, hearing loss, childhood-onset obesity, diabetes, kidney and liver dysfunction.

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