What is MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (MPSPS)?

very rare autosomal recessive mutation in the VPS33A gene

Which enzymes are involved?

Vacuolar protein sorting-associated protein 33A

Disease	MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (MPSPS)
OMIM	617303 OMIM = Online Mendelian Inheritance of Men
Protein (UniProt)	Vacuolar protein sorting-associated protein 33A
Gene locus	12q24.31
ICD
Summary	very rare autosomal recessive mutation in the VPS33A gene
Laboratory findings	Glycosaminoglycans, total inc (urine) Heparan sulfate inc (plasma)
Symptoms	anemia atrial septal defect cardiomyopathy cardiomyopathy, hypertrophic cerebral atrophy coarse facial features congenital heart defect contractures, joints developmental delay dysmorphism dysostosis multiplex early death hepatomegaly (large liver) hirsutism infections (respiratory tract/system) leukopenia macroglossia, large/protuding tongue nephrotic syndrome onset, infancy optic atrophy patent ductus venosus proteinuria respiratory insufficiency skeletal changes, skeletal abnormalities splenomegaly (large spleen) thrombopenia, thrombocytopenia