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Summary
MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME MPSPS
617303
OMIM = Online Medalian Inheritance of Men
12q24.31
very rare
autosomal recessive
mutation in the VPS33A gene
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
laboratory finding
Heparan sulfate plasma
Glycosaminoglycans, total urine
Literature
Stevenson RE,et al.Allan-Herndon syndrome. I. Clinical studiesAm J Hum Genet473446-4531990
Schwartz CE,et al.Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) geneAm J Hum Genet77141-532005
Vaurs-Barriere C,et alPelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjectsAnn Neurol651114-1182009