Details of Disease

General Information of Disease (ID: DIS1YJC5)

Disease Name Hurler-Scheie syndrome
Synonyms
mucopolysaccharidosis type I mild form; Scheie's syndrome; l-iduronidase deficiency, Scheie type; mucopolysaccharidosis IH/S; Scheie disease mps type 1s; MPS1-HS; mucopolysaccharidosis type Ih/S; mucopolysaccharidosis type I-S; HurlerScheie syndrome; MPSIH/S; MPS1H/S; mucopolysaccharidosis, mps-I-s; Hurler-Scheie syndrome; MPS I H-S; mucopolysaccharidosis type 1H/S; mucopolysaccharidosis type IH/S
Definition
Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1) between the two extremes Hurler syndrome and Scheie syndrome ; it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISZHA63: Lysosomal storage disease with skeletal involvement
DISTS29G: Mucopolysaccharidosis I
DIS1YJC5: Hurler-Scheie syndrome
Disease Identifiers
MONDO ID
MONDO_0011759
MESH ID
D008059
UMLS CUI
C0086431
OMIM ID
607015
MedGen ID
88566
Orphanet ID
93476
SNOMED CT ID
26745009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
IDUA TT0IUKX Strong Genetic Variation [1]
TTK TTP7EGM Strong Genetic Variation [2]
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This Disease Is Related to 1 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC26A1 DTJ785O Definitive CausalMutation [3]
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This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
IDUA DELTYX6 Strong Autosomal recessive [4]
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This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
IDUA OTTQQ7FN Strong Autosomal recessive [4]
MPEG1 OT7DAO0F Strong Genetic Variation [2]
RPS27 OTFXKY7P Strong Genetic Variation [2]
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References

1 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.
2 Deep Anterior Lamellar Keratoplasty in a Case of Hurler-Scheie Syndrome Undergoing Enzyme Replacement Therapy.Cornea. 2019 Mar;38(3):376-378. doi: 10.1097/ICO.0000000000001840.
3 Worldwide distribution of common IDUA pathogenic variants.Clin Genet. 2018 Jul;94(1):95-102. doi: 10.1111/cge.13224. Epub 2018 Apr 11.
4 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.