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MPS VI - Maroteaux-Lamy syndrome

Stable Identifier
R-HSA-2206285
Type
Pathway
Species
Homo sapiens
Locations in the PathwayBrowser
Summation

Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, polydystrophic dwarfism; MIM:253200) is an autosomal recessive lysosomal storage disorder caused by a deficiency in arylsulfatase B (ARSB, N-acetyl-galactosamine 4-sulfatase; MIM:611542). It is named after two French physicians, Pierre Maroteaux and Maurice Emil Joseph Lamy. Maroteaux first described this disorder as a novel dysostosis associated with increased urinary excretion of chondroitin sulfate (CS; Maroteaux et al. 1963). The gene encoding ARSB is mapped to chromosome 5q11-q13 (Fidzianska et al. 1984) and contains 8 exons spanning about 206 kb (Karangeorgos et al. 2007). Defective ARSB results in build up of dermatan sulfate (DS) and chondroitin sulfate (CS) in soft tissues causing compression and blockages in blood vessels, nerves, trachea, corneal clouding and disrupting normal bone development. Symptoms are similar to MPS I but with normal intelligence generally (Rapini et al. 2007, Valayannopoulos et al. 2010).

Literature References
PubMed ID Title Journal Year
6467990 Assignment of the gene for human arylsulfatase B, ARSB, to chromosome region 5p11----5qter Cytogenet. Cell Genet. 1984
  Dermatology: 2-Volume Set   2007
20385007 Mucopolysaccharidosis VI Orphanet J Rare Dis 2010
14091597 [A NEW DYSOSTOSIS WITH URINARY ELIMINATION OF CHONDROITIN SULFATE B] Presse Med 1963
17458871 Mutational analysis of 105 mucopolysaccharidosis type VI patients Hum. Mutat. 2007
Participants
Participant Of
Disease
Name Identifier Synonyms
mucopolysaccharidosis VI 12800 Maroteaux-Lamy syndrome, arylsulfatase B deficiency, Maroteaux - Lamy syndrome, Maroteaux-Lamy syndrome (disorder), deficiency of N-acetylgalactosamine-4-sulfatase (disorder)