Details of Disease

General Information of Disease (ID: DISTS29G)

• Disease Name: Mucopolysaccharidosis I
• Synonyms: severe MPS I (subtype, also known as Hurler syndrome); mucopolysaccharidosis I; attenuated MPS I (subtype, includes Hurler-Scheie and Scheie syndrome); Scheie syndrome (subtype) formerly known as Mucopoly-saccharidosis type V); MPS I; MPS 1; IDUA deficiency; Hurler-Scheie syndrome (subtype); Hurler syndrome (subtype); Hurler syndrome; mucopolysaccharidosis, type 1; mucopolysaccharidosis, MPS-I; mucopolysaccharidosis type I; mucopolysaccharidosis type 1; lipochondrodystrophy; iduronidase deficiency disease; Mucopolysaccharidosis Type I; MPSI; MPS1; MPS I - Hurler syndrome; Alpha-L-iduronidase deficiency
• Disease Class: 5C56: Lysosomal disease
• Definition: The most common type of mucopolysaccharidosis. It is inherited in an autosomal recessive pattern. It comprises a group of lysosomal storage diseases which includes the most severe form (Hurler syndrome) and the mildest form (Scheie syndrome).
• Disease Hierarchy:
  DISB52BH: Eye disorder
  DISE1F82: Bone disease
  DISB083T: Mucopolysaccharidosis
  DISTS29G: Mucopolysaccharidosis I
• ICD Code: ICD-11: ICD-11: 5C56.30
• Disease Identifiers:
  MONDO ID: MONDO_0001586
  MESH ID: D008059
  UMLS CUI: C0023786
  MedGen ID: 44171
  Orphanet ID: 579
  SNOMED CT ID: 75610003

Drug-Interaction Atlas (DIA) of This Disease

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

Drug Name	Drug ID	Highest Status	Drug Type	REF
OTL-203	DMCG7R2	Phase 1/2	Cell therapy	[1]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARSB	TTESQTG	Strong	Biomarker	[2]
IDUA	TT0IUKX	Strong	Genetic Variation	[3]
TTK	TTP7EGM	Strong	Genetic Variation	[4]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A1	DTJ785O	Strong	CausalMutation	[5]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
IDUA	DELTYX6	Definitive	Autosomal recessive	[6]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FUT1	OTODG57A	moderate	Biomarker	[7]
MPEG1	OT7DAO0F	Strong	Genetic Variation	[4]
RPS27	OTFXKY7P	Strong	Genetic Variation	[4]
IDUA	OTTQQ7FN	Definitive	Autosomal recessive	[6]

References

• [1] Clinical pipeline report, company report or official report of Orchard Therapeutics
• [2] Alpha-l-iduronidase and arylsulfatase B in dried blood spots on filter paper: Biochemical parameters and time stability.Clin Biochem. 2017 May;50(7-8):431-435. doi: 10.1016/j.clinbiochem.2016.12.007. Epub 2017 Jan 11.
• [3] Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.Mol Genet Genomic Med. 2020 Jan;8(1):e1058. doi: 10.1002/mgg3.1058. Epub 2019 Nov 23.
• [4] Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.Orphanet J Rare Dis. 2018 Jan 8;13(1):2. doi: 10.1186/s13023-017-0733-y.
• [5] Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru.Mol Genet Metab Rep. 2014 Oct 30;1:468-473. doi: 10.1016/j.ymgmr.2014.10.001. eCollection 2014.
• [6] 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.
• [7] Targeting a Pre-existing Anti-transgene T Cell Response for Effective Gene Therapy of MPS-I in the Mouse Model of the Disease.Mol Ther. 2019 Jul 3;27(7):1215-1227. doi: 10.1016/j.ymthe.2019.04.014. Epub 2019 Apr 19.