TERMIUM Plus®

The Government of Canada’s terminology and linguistic data bank.

ALSTROM SYNDROME [1 record]

Record 1 2019-11-28

English

Subject field(s)
  • Human Diseases - Various
  • Genetics
CONT

Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic, and renal dysfunction. ... Alström syndrome is caused by mutations in ALMS1, a large gene comprised of 23 exons and coding for a protein of 4,169 amino acids.

French

Domaine(s)
  • Maladies humaines diverses
  • Génétique
CONT

Le syndrome d'Alström est une maladie multisystémique caractérisée par une dystrophie des cônes et des bâtonnets, une surdité, une obésité, une résistance à l'insuline et une hyperinsulinémie, un diabète de type 2, une cardiomyopathie dilatée (CMD) et une insuffisance hépatique et rénale progressive.

Spanish

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