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GENATLAS PHENOTYPE

last update : 14-09-2013

Symbol	MPS6
Location	5q13-q14.1
Name	mucopolysaccharidosis, type VI
Other name(s)	Maroteaux-Lamy syndrome
Corresponding gene	ARSB
Main clinical features	striking osseous and corneal changes (like those of MPS I) without intellectual impairment until late, only (or predominantly) chondroitin sulfate B excretion in the urine severity variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism classic form has severe physical changes, including hydrocephalus due to meningeal involvement, leading to death in the teens as a rule the mildest form characterized by short stature, corneal clouding, Legg-Perthes-like disease of the hips, and aortic stenosis azurophilic cytoplasmic inclusions in polymorphonuclear leukocytes, increased urinary excretion of chondroitin sulfate, fibroblasts had only 2 to 3p100 residual arylsulfatase B activity
Genetic determination	autosomal recessive
Function/system disorder	metabolism/lysosomal
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense			45 identified mutations predominantly non recurrent missense mutations

Remark(s)