Mucopolysaccharidosis type VI

URI: https://gptkb.org/entity/Mucopolysaccharidosis_type_VI
GPTKB entity
Statements (35)
Predicate Object
gptkbp:instanceOf gptkb:genetic_disorder
gptkb:autosomal_recessive_disease
gptkb:lysosomal_storage_disease
gptkbp:accumulationOf dermatan sulfate
gptkbp:affects gptkb:skeletal_muscle
cardiovascular system
respiratory system
skeletal system
ocular system
gptkbp:alsoKnownAs gptkb:Maroteaux-Lamy_syndrome
gptkbp:category gptkb:mucopolysaccharidosis
gptkbp:deficiencyCauses gptkb:arylsulfatase_B
gptkbp:diagnosedBy genetic testing
enzyme assay
gptkbp:firstDescribed gptkb:Maurice_Lamy
gptkb:Pierre_Maroteaux
1963
gptkbp:ICD-10_code E76.2
gptkbp:inheritance autosomal recessive
gptkbp:mutationAssociatedWith gptkb:ARSB_gene
gptkbp:OMIM 253200
gptkbp:prevalence rare
gptkbp:symptom short stature
hepatosplenomegaly
joint stiffness
coarse facial features
corneal clouding
cardiac valve disease
dysostosis multiplex
gptkbp:treatment gptkb:enzyme_replacement_therapy
hematopoietic stem cell transplantation
gptkbp:bfsParent gptkb:ARSB
gptkb:MPS6
gptkbp:bfsLayer 7
https://www.w3.org/2000/01/rdf-schema#label Mucopolysaccharidosis type VI