Details of Disease

General Information of Disease (ID: DISSLP8Z)

• Disease Name: Maroteaux-lamy syndrome
• Synonyms: Mucopoly-saccharidosis type VI; Arsb deficiency; N-acetylgalactosamine-4-sulfatase deficiency; MPS VI; MPS 6; mucopolysaccharidosis VI; Maroteaux Lamy syndrome; N-acetylgalactosamine 4-sulfatase deficiency; Maroteaux - Lamy syndrome; Maroteaux Lamy Syndrome; MPS VI - Maroteaux-Lamy syndrome; mucopolysaccharidosis type VI; arylsulfatase B deficiency; mucopolysaccharidosis type VI (Maroteaux-Lamy); Maroteaux-Lamy disease; ARSB deficiency; deficiency of N-acetylgalactosamine-4-sulfatase; MPSVI; MPS6; Maroteaux-Lamy syndrome; ASB deficiency
• Disease Class: 5C56: Lysosomal disease
• Definition: 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.
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DIS6SVEE: Syndromic disease
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DISB083T: Mucopolysaccharidosis
  DISSLP8Z: Maroteaux-lamy syndrome
• ICD Code:
  ICD-11: ICD-11: 5C56.33
  ICD-10: ICD-10: E76.2
  Expand ICD-11: '5C56.33
  Expand ICD-10: 'E76.2
• Disease Identifiers:
  MONDO ID: MONDO_0009661
  MESH ID: D009087
  UMLS CUI: C0026709
  OMIM ID: 253200
  MedGen ID: 44514
  Orphanet ID: 583
  SNOMED CT ID: 52677002

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 1 Investigative Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
MPS-AAV8	DMKOWX6	Investigative	NA	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ADAMTS5	TTXSU2Y	Strong	Biomarker	[2]
ARSB	TTESQTG	Strong	Genetic Variation	[3]
GUSB	TTHS7CM	Strong	CausalMutation	[4]
IDS	TTNY2AP	Strong	Biomarker	[5]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Biomarker	[6]
ARSB	DEHKRDS	Definitive	Autosomal recessive	[7]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACP2	OTLPA1LJ	Limited	Altered Expression	[8]
ARSB	OTTYDDNU	Definitive	Autosomal recessive	[7]

References

• [1] The ChEMBL database in 2017. Nucleic Acids Res. 2017 Jan 4;45(D1):D945-D954.
• [2] Structural, compositional, and biomechanical alterations of the lumbar spine in rats with mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome).J Orthop Res. 2013 Apr;31(4):621-31. doi: 10.1002/jor.22281. Epub 2012 Nov 28.
• [3] Identification of eleven different mutations including six novel, in the arylsulfatase B gene in Iranian patients with mucopolysaccharidosis type VI.Mol Biol Rep. 2019 Jun;46(3):3417-3426. doi: 10.1007/s11033-019-04804-9. Epub 2019 Apr 13.
• [4] Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.Sci Rep. 2018 Nov 9;8(1):16644. doi: 10.1038/s41598-018-34523-3.
• [5] Free urinary glycosylated hydroxylysine as an indicator of altered collagen degradation in the mucopolysaccharidoses.J Inherit Metab Dis. 2020 Mar;43(2):309-317. doi: 10.1002/jimd.12166. Epub 2019 Oct 1.
• [6] Expert recommendations for the laboratory diagnosis of MPS VI.Mol Genet Metab. 2012 May;106(1):73-82. doi: 10.1016/j.ymgme.2012.02.005. Epub 2012 Feb 10.
• [7] Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
• [8] The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover.J Bone Miner Res. 2018 Dec;33(12):2186-2201. doi: 10.1002/jbmr.3563. Epub 2018 Aug 24.