Details of Disease

General Information of Disease (ID: DIS1DPSN)

• Disease Name: Hurler syndrome
• Synonyms: mucopolysaccharidosis IH; MPS1-H; MPS1H; mucopolysaccharidosis type 1H; Hurler syndrome; MPS I H; Hurler disease; mucopolysaccharidosis type IH; MPSIH
• Definition: Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISL4MMU: Familial restrictive cardiomyopathy
  DISZHA63: Lysosomal storage disease with skeletal involvement
  DISTS29G: Mucopolysaccharidosis I
  DIS1DPSN: Hurler syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0011758
  MESH ID: D008059
  UMLS CUI: C0086795
  OMIM ID: 607014
  MedGen ID: 39698
  HPO ID: HP:0000943
  Orphanet ID: 93473
  SNOMED CT ID: 254069004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLB1	TTNGJPH	Limited	Biomarker	[1]
ARSB	TTESQTG	Strong	Genetic Variation	[2]
IDS	TTNY2AP	Strong	Biomarker	[3]
TTK	TTP7EGM	Strong	Biomarker	[4]
PHKG2	TTI5WS6	Definitive	Genetic Variation	[5]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC26A1	DTJ785O	Strong	CausalMutation	[6]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
IDUA	DELTYX6	Strong	Autosomal recessive	[7]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IDUA	OTTQQ7FN	Strong	Autosomal recessive	[7]
MPEG1	OT7DAO0F	Strong	Biomarker	[4]
RPS27	OTFXKY7P	Strong	Biomarker	[4]
NSUN2	OTZCNM33	Definitive	Genetic Variation	[5]

References

• [1] Morquio B patient/caregiver survey: First insight into the natural course of a rare GLB1 related condition.Mol Genet Metab Rep. 2018 Jul 20;16:57-63. doi: 10.1016/j.ymgmr.2018.06.006. eCollection 2018 Sep.
• [2] Incidence of the mucopolysaccharidoses in Western Australia.Am J Med Genet A. 2003 Dec 15;123A(3):310-3. doi: 10.1002/ajmg.a.20314.
• [3] Identification and characterization of 20 novel pathogenic variants in 60 unrelated Indian patients with mucopolysaccharidoses type I and type II.Clin Genet. 2016 Dec;90(6):496-508. doi: 10.1111/cge.12795. Epub 2016 May 26.
• [4] Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1.J Pediatr Endocrinol Metab. 2019 Nov 26;32(11):1221-1227. doi: 10.1515/jpem-2019-0188.
• [5] Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar. Clin Genet. 2014 Aug;86(2):134-41. doi: 10.1111/cge.12280. Epub 2013 Oct 13.
• [6] Evaluation and identification of IDUA gene mutations in Turkishpatients with mucopolysaccharidosis type I.Turk J Med Sci. 2016 Feb 17;46(2):404-8. doi: 10.3906/sag-1411-160.
• [7] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.