Mucopolysaccharidosis-plus Syndrome; Mpsps

Description

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).

Clinical Features

Top most frequent phenotypes and symptoms related to Mucopolysaccharidosis-plus Syndrome; Mpsps

  • Global developmental delay
  • Motor delay
  • Abnormal facial shape
  • Myopathy
  • Spasticity
  • Anemia
  • Flexion contracture
  • Epicanthus
  • Hepatomegaly
  • Hyperreflexia
And another 55 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Mucopolysaccharidosis-plus Syndrome; Mpsps Recommended genes panels

Panel Name, Specifity and genes Tested/covered
VPS33A.

By Fulgent Genetics Fulgent Genetics in United States.

VPS33A
Specificity
100 %
Genes
100 %

Alternate names

Mucopolysaccharidosis-plus Syndrome; Mpsps Is also known as ;mucopolysaccharidosis-like plus disease.



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