Alström syndrome

Also known as: Alström–Hallgren syndrome

Ciliopathy with childhood obesity, blindness, deafness, cardiomyopathy and diabetes.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, infancy
Gene(s) involved: ALMS1

Etiology & mechanism

ALMS1 dysfunction of cilia and centrosomes.

Gene(s) involved (1)

ALMS1

Symptoms & signs (10)

dilated cardiomyopathyfatty liverhearing losshypertriglyceridemianystagmusobesityphotophobiaprogressive vision lossrenal failuretype 2 diabetes

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