Details of Disease | DrugMAP

General Information of Disease (ID: DIS24G0Z)

Disease Name	Scheie syndrome
Synonyms	mucopolysaccharidosis type V, formerly; MPS V, formerly; MPS V; MPS5, formerly; MPS1-S; mucopolysaccharidosis Is; MPSIS; mucopolysaccharidosis type V; MPS I S; mucopolysaccharidosis type IS; MPS1S; mucopolysaccharidosis type 1S; Scheie syndrome
Definition	Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1), 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 DIS24G0Z: Scheie syndrome
Disease Identifiers	MONDO ID MONDO_0011760 MESH ID D008059 UMLS CUI C0026708 OMIM ID 607016 MedGen ID 6453 Orphanet ID 93474 SNOMED CT ID 73123008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IDUA	TT0IUKX	Strong	Genetic Variation	[1]
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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	[2]
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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	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
IDUA	OTTQQ7FN	Definitive	Autosomal recessive	[3]
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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	Residual -L-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients.Mol Genet Metab. 2013 Aug;109(4):377-81. doi: 10.1016/j.ymgme.2013.05.016. Epub 2013 Jun 4.
3	Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. Hum Mol Genet. 1994 Jun;3(6):861-6. doi: 10.1093/hmg/3.6.861.