mucopolysaccharidosis
Findings
No curated finding names mucopolysaccharidosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of autosomal recessive or X-linked inherited lysosomal storage disorders affecting the metabolism of mucopolysaccharides, resulting in the accumulation of mucopolysaccharides in the body. Signs and symptoms include organomegaly, mental retardation, abnormal skeletal development, heart disorders, hearing loss, and central nervous system deficiencies.
Definition from the Mondo Disease Ontology (MONDO:0019249), read 2026-09-29. CC BY 4.0.
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.
- ARSKHGNC:25239
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: mucopolysaccharidosis
- Also called
- Mucopolysaccharidoses