Details of Disease | DrugMAP

General Information of Disease (ID: DISTF41F)

Disease Name	Mucopolysaccharidosis type 7
Synonyms	mucopolysaccharidosis, type VII; mucopolysaccharidosis, type 7; MPS VII - mucopolysaccharidosis VII; MPS 7; gusb deficiency; Gus deficiency; MPS VII; Gusb deficiency; mucopolysaccharidosis type 7; MPSVII; Mucopolysaccharidosis Type VII; mucopolysaccharidosis VII; beta-glucuronidase deficiency; mucopolysaccharidosis type VII; deficiency of beta-glucuronidase; mucopolysaccharidosis, mps-VII; Sly disease; Sly syndrome; Beta-glucuronidase deficiency; MPS7; MPS VII - Sly syndrome
Definition	Mucopolysaccharidosis type VII (MPS VII) is a very rare lysosomal storage disease belonging to the group of mucopolysaccharidoses.
Disease Hierarchy	DISZHA63: Lysosomal storage disease with skeletal involvement DISB083T: Mucopolysaccharidosis DISTF41F: Mucopolysaccharidosis type 7
Disease Identifiers	MONDO ID MONDO_0009662 MESH ID D016538 UMLS CUI C0085132 OMIM ID 253220 MedGen ID 43108 Orphanet ID 584 SNOMED CT ID 124470009

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
GUSB	TTHS7CM	Strong	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GUSB	DEP54UE	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GUSB	OT9N1DK3	Definitive	Autosomal recessive	[2]
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References

1	Vestronidase Alfa: A Review in Mucopolysaccharidosis VII.BioDrugs. 2019 Apr;33(2):233-240. doi: 10.1007/s40259-019-00344-7.
2	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.