Features include always present findings: Epicanthus, Flexion contracture, Low muscle tone (hypotonia), and Hypoalbuminemia and others; and very common findings: Coarse facial features, Macroglossia, Nephrotic syndrome, and Increased circulating IgM level and others. 64 total HPO annotations.

VPS33A function has not been fully characterized.

Mucopolysaccharidosis-plus syndrome is caused by mutations in the VPS33A gene on chromosome 12.

Genetic testing for VPS33A is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 17 always present features, 10 very common features, 27 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for mucopolysaccharidosis-plus syndrome.

4 publications have been identified in PubMed for mucopolysaccharidosis-plus syndrome. Research spans Basic Science / Preclinical (50%), Review / Meta-Analysis (25%), and Gene Therapy / Novel Therapeutics (25%).

Recent Publications

• Cyske Z (2025). [PMID: 40758165](https://pubmed.ncbi.nlm.nih.gov/40758165/). *Journal of applied genetics*. [Basic Science / Preclinical]

• Terawaki S (2025). [PMID: 40822349](https://pubmed.ncbi.nlm.nih.gov/40822349/). *iScience*. [Basic Science / Preclinical]

• Cyske Z (2025). [PMID: 41310305](https://pubmed.ncbi.nlm.nih.gov/41310305/). *Mammalian genome : official journal of the International Mammalian Genome Society*. [Gene Therapy / Novel Therapeutics]

• Cyske Z (2024). [PMID: 39273517](https://pubmed.ncbi.nlm.nih.gov/39273517/). *International journal of molecular sciences*. [Review / Meta-Analysis]