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Alström syndrome

Disease definition

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ORPHA:64

  • Synonym(s): -
  • Prevalence: 1-9 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal, Childhood, Adolescent, Adult
  • ICD-10: Q87.8
  • OMIM: 203800
  • UMLS: C0268425
  • MeSH: D056769
  • GARD: 5787
  • MedDRA: 10068783

Detailed information

Professionals

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.