You are using an outdated browser. Please upgrade your browser to improve your experience.

mucopolysaccharidosis type 6

Disease Summary
Associated Targets (1)
Tbio

1


Explore Associated Targets
Mondo Description Mucopolysaccharidosis type 6 (MPS 6) is a lysosomal storage disease with progressive multisystem involvement, associated with a deficiency of arylsulfatase B (ASB) leading to the accumulation of dermatan sulfate.
Uniprot Description An autosomal recessive lysosomal storage disease characterized by intracellular accumulation of dermatan sulfate. Clinical features can include abnormal growth, short stature, stiff joints, skeletal malformations, corneal clouding, hepatosplenomegaly, and cardiac abnormalities. A wide variation in clinical severity is observed.
Disease Ontology Description A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase.
Mondo Term and Equivalent IDs
MONDO:0009661:  mucopolysaccharidosis type 6
GARD:0007095: 
MESH:D009087: 
NCIT:C61264: 
Orphanet:583: 
SCTID:69463008: 
UMLS:C0026709: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)