Overview Alström Syndrome Cone-rod dystrophy Supporting Organisation References Overview Gene (OMIM no.) ALMS1 (#606844) Function of gene/protein Protein: centrosome and...

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.

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.