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).

Genes related to Mucopolysaccharidosis-plus Syndrome; Mpsps

VPS33A

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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