Hunter syndrome

Also known as: Mucopolysaccharidosis type II

X-linked lysosomal storage disorder with valve thickening and cardiomyopathy.

Medical specialty: Cardiology
Subspecialty: Cardiology / Genetic cardiology
Sex & age distribution: Male: affected, nearly all; Female: carriers rarely affected; Children: yes, early childhood
Gene(s) involved: IDS

Etiology & mechanism

IDS deficiency causes glycosaminoglycan storage.

Gene(s) involved (1)

IDS

Symptoms & signs (7)

cardiomyopathycoarse facieshearing losshepatosplenomegalyshort statureskeletal dysplasiavalve regurgitation

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.