X-linked lysosomal storage disorder with valve thickening and cardiomyopathy.
- 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
- Alternative names & eponyms
- Mucopolysaccharidosis type II
Etiology & mechanism
IDS deficiency causes glycosaminoglycan storage.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Hunter 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.
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Shares symptoms with
4 shared
Hurler syndrome
cardiomyopathy, coarse facies, hearing loss, hepatosplenomegaly
3 shared
Hajdu–Cheney syndrome
coarse facies, hearing loss, short stature
2 shared
Börjeson–Forssman–Lehmann syndrome
coarse facies, short stature
2 shared
Coffin–Lowry syndrome
coarse facies, short stature
2 shared
Costello syndrome
coarse facies, short stature
2 shared
Maroteaux–Lamy syndrome
hepatosplenomegaly, short stature
2 shared
Marshall syndrome
hearing loss, short stature
2 shared
MERRF syndrome
hearing loss, short stature
2 shared
Mucopolysaccharidosis type II with neurological involvement
hearing loss, hepatosplenomegaly
2 shared
Mucopolysaccharidosis type IV with neurological involvement
short stature, skeletal dysplasia
Shares genes with
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