Cardiology · Cardiology / Genetic cardiology
Hurler syndrome
also: Hurler–Scheie syndrome; Mucopolysaccharidosis type I
Lysosomal storage disorder with valve disease and coronary narrowing.
- Specialty
- Cardiology
- Subspecialty
- Cardiology / Genetic cardiology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- IDUA
- Alternative names & eponyms
- Hurler–Scheie syndrome; Mucopolysaccharidosis type I
Etiology & mechanism
IDUA deficiency causes glycosaminoglycan accumulation.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Hurler syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
4 shared
Hunter syndrome
cardiomyopathy, coarse facies, hearing loss, hepatosplenomegaly
3 shared
Maroteaux–Lamy syndrome
corneal clouding, hepatosplenomegaly, valve thickening
3 shared
Sly syndrome
coarse facies, dysostosis multiplex, hepatosplenomegaly
2 shared
Hajdu–Cheney syndrome
coarse facies, hearing loss
2 shared
Hurler–Scheie syndrome
coarse facies, corneal clouding
2 shared
Mucopolysaccharidosis type II with neurological involvement
hearing loss, hepatosplenomegaly
2 shared
Zimmermann–Laband syndrome
coarse facies, hepatosplenomegaly
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Alström syndrome
hearing loss
1 shared
Anomalous left coronary artery from pulmonary artery
mitral regurgitation
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