Lysosomal Storage Disorder
Gene: ARSB
Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal.
Well established gene-disease association.Created: 7 Apr 2021, 8:53 a.m. | Last Modified: 7 Apr 2021, 8:53 a.m.
Panel Version: 0.73
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Publications
Tag treatable tag was added to gene: ARSB. Tag clinical trial tag was added to gene: ARSB.
Gene: arsb has been classified as Green List (High Evidence).
Phenotypes for gene: ARSB were changed from to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661
Publications for gene: ARSB were set to
Mode of inheritance for gene: ARSB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: ARSB was added gene: ARSB was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ARSB was set to Unknown