Details of Disease | DrugMAP

General Information of Disease (ID: DIS1RN28)

Disease Name	Mucopolysaccharidosis type 3B
Synonyms	N-Acetyl-Alpha-D-glucosaminidase deficiency; MPS IIIB; Mucopoly-saccharidosis type 3B; MPS 3B; NAGLU deficiency; mucopolysaccharidosis, type IIIB; mucopolysaccharidosis, type 3B; mucopolysaccharidosis type IIIB; mucopolysaccharidosis type IIIB (Sanfilippo B); Sanfilippo B; Sanfilippo syndrome B; Sanfilippo syndrome type B; MPSIIIB; N-acetyl-alpha-glucosaminidase deficiency; mucopolysaccharidosis type 3B; MPS3B; MPS III B
Definition	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays.
Disease Hierarchy	DISP7DR6: Mucopolysaccharidosis type IIIA DISZHA63: Lysosomal storage disease with skeletal involvement DIS1RN28: Mucopolysaccharidosis type 3B
Disease Identifiers	MONDO ID MONDO_0009656 MESH ID D009084 UMLS CUI C0086648 OMIM ID 252920 MedGen ID 88601 Orphanet ID 79270 SNOMED CT ID 59990008

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	Limited	Biomarker	[1]
SGSH	TTPJ2SH	Strong	Altered Expression	[2]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAGLU	DELOWRJ	Definitive	Autosomal recessive	[3]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GNS	OTNFKYGB	Strong	Biomarker	[4]
NAGPA	OTR0B67G	Strong	Genetic Variation	[5]
RPS27	OTFXKY7P	Strong	Biomarker	[1]
NAGLU	OTM0709Q	Definitive	Autosomal recessive	[3]
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References

1	Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses.Mol Ther Methods Clin Dev. 2018 Jun 18;10:8-16. doi: 10.1016/j.omtm.2018.05.002. eCollection 2018 Sep 21.
2	A prospective one-year natural history study of mucopolysaccharidosis types IIIA and IIIB: Implications for clinical trial design.Mol Genet Metab. 2016 Nov;119(3):239-248. doi: 10.1016/j.ymgme.2016.08.002. Epub 2016 Aug 18.
3	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.
4	Chromosomal localization of the gene for human glucosamine-6-sulphatase to 12q14. Hum Genet. 1988 Jun;79(2):175-8. doi: 10.1007/BF00280560.
5	BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis.PLoS One. 2019 Jan 18;14(1):e0207836. doi: 10.1371/journal.pone.0207836. eCollection 2019.