mucopolysaccharidosis type 3
Findings
No curated finding names mucopolysaccharidosis type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A lysosomal disease characterized by progressive neurocognitive decline, severe intellectual deterioration, loss of functional abilities, and premature death.
Definition from the Mondo Disease Ontology (MONDO:0018937), read 2026-09-29. CC BY 4.0.
Features
105 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Central nervous system degenerationHPOHP:0007009
- Very frequent (80% to 99% of cases)
- Chronic otitis mediaHPOHP:0000389
- Very frequent (80% to 99% of cases)
- Coarse hairHPOHP:0002208
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Occasional (5% to 29% of cases)
- Very frequent (80% to 99% of cases)
- MalabsorptionHPOHP:0002024
- Very frequent (80% to 99% of cases)
- MucopolysacchariduriaHPOHP:0008155
- Very frequent (80% to 99% of cases)
- Progressive neurologic deteriorationHPOHP:0002344
- Very frequent (80% to 99% of cases)
- Severe intellectual disabilityHPOHP:0010864
- Very frequent (80% to 99% of cases)
- Sleep disturbanceHPOHP:0002360
- Very frequent (80% to 99% of cases)
- Urinary glycosaminoglycan excretionHPOHP:0003541
- Very frequent (80% to 99% of cases)
Show the remaining 93
- Abnormal clavicle morphologyHPOHP:0000889
- Frequent (30% to 79% of cases)
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Abnormal rib morphologyHPOHP:0000772
- Frequent (30% to 79% of cases)
- Abnormal skeletal morphologyHPOHP:0011842
- Frequent (30% to 79% of cases)
- Abnormal vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- AdenoiditisHPOHP:0031458
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGSNATHGNC:26527
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
Where it sits
Other names
7 names
Resolves to: mucopolysaccharidosis type 3
- Also called
- heparan sulphate sulfatase deficiencyMPS3MPSIIIMucopoly-saccharidosis type 3Mucopolysaccharidosis Type IIISanfilippo diseaseSanfilippo syndrome