Heparan sulfate storage with prominent neurodegeneration.
- Specialty
- Neurology
- Subspecialty
- Neurology / Metabolic disease
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, early childhood
- Gene(s) involved
- GNS, HGSNAT, NAGLU, SGSH
- Alternative names & eponyms
- Sanfilippo syndrome
Etiology & mechanism
SGSH, NAGLU, HGSNAT, GNS mutations.
Gene(s) involved (4)
Symptoms & signs (3)
In plain terms, someone with Mucopolysaccharidosis type III 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
2 shared
Sanfilippo syndrome
hyperactivity, sleep disturbance
1 shared
Angelman syndrome
sleep disturbance
1 shared
Fibromyalgia syndrome
sleep disturbance
1 shared
Fragile X syndrome
hyperactivity
1 shared
Long COVID neurological syndrome
sleep disturbance
1 shared
Opsoclonus–myoclonus syndrome
sleep disturbance
1 shared
Postural orthostatic tachycardia syndrome
sleep disturbance
1 shared
Rape trauma syndrome
sleep disturbance
1 shared
Resistance to thyroid hormone
hyperactivity
1 shared
Smith–Magenis syndrome
sleep disturbance
Shares genes with
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