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GTR Home > Conditions/Phenotypes > Mucopolysaccharidosis-plus syndrome

Mucopolysaccharidosis-plus syndrome

Synonyms
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders

Summary

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., 607016). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017). [from OMIM]

Available tests

7 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MPSPS, VPS33A
    Summary: VPS33A core subunit of CORVET and HOPS complexes

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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