Pediatrics · Pediatrics / Pediatric metabolism
Sanfilippo syndrome
also: Mucopolysaccharidosis type III
Lysosomal storage disease with severe neurodegeneration.
- Specialty
- Pediatrics
- Subspecialty
- Pediatrics / Pediatric metabolism
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, onset 2–6 years
- Gene(s) involved
- GNS, HGSNAT, NAGLU, SGSH
- Alternative names & eponyms
- Mucopolysaccharidosis type III
Etiology & mechanism
Deficiency of heparan sulfate degradation enzymes.
Gene(s) involved (4)
Symptoms & signs (5)
In plain terms, someone with Sanfilippo 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
2 shared
Mucopolysaccharidosis type III
hyperactivity, sleep disturbance
2 shared
Smith–Magenis syndrome
behavioral problems, sleep disturbance
1 shared
Angelman syndrome
sleep disturbance
1 shared
Cerebral folate deficiency syndrome
developmental regression
1 shared
Dravet syndrome
developmental regression
1 shared
Farber syndrome
developmental regression
1 shared
Fibromyalgia syndrome
sleep disturbance
1 shared
Fragile X syndrome
hyperactivity
1 shared
Leigh syndrome
developmental regression
1 shared
Lennox–Gastaut syndrome
behavioral problems
Shares genes with
Loading…
Loading…