Details of Disease | DrugMAP

General Information of Disease (ID: DIS2TLNF)

Disease Name	Mucopolysaccharidosis type 3A
Synonyms	MPS IIIA; mucopolysaccharidosis, type IIIA; mucopoly-saccharidosis type 3A; sulfamidase deficiency; MPS 3A; heparan sulphate sulfatase deficiency; heparan sulfate sulfatase deficiency; mucopolysaccharidosis, type 3A; heparane sulfamidase deficiency; mucopolysaccharidosis type 3A; Sanfilippo syndrome type A; Sanfilippo syndrome a; mucopolysaccharidosis type IIIA; MPS III A; mucopolysaccharidosis type IIIA (Sanfilippo A); MPSIIIA; heparan sulfamidase deficiency; MPS3A; Sanfilippo A
Definition	A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures.
Disease Hierarchy	DISP7DR6: Mucopolysaccharidosis type IIIA DISZHA63: Lysosomal storage disease with skeletal involvement DIS2TLNF: Mucopolysaccharidosis type 3A
Disease Identifiers	MONDO ID MONDO_0009655 MESH ID D009084 UMLS CUI C0086647 OMIM ID 252900 MedGen ID 39264 Orphanet ID 79269 SNOMED CT ID 41572006

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
IDS	TTNY2AP	Limited	Biomarker	[1]
SGSH	TTPJ2SH	Limited	Biomarker	[2]
ARSB	TTESQTG	moderate	Genetic Variation	[1]
IDUA	TT0IUKX	Strong	Biomarker	[3]
NAGLU	TTDM6HZ	Strong	Genetic Variation	[4]
TTK	TTP7EGM	Strong	Biomarker	[3]
SGSH	TTPJ2SH	Definitive	Autosomal recessive	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 7 DTT(s)

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ARMC9	OT0MZER2	Limited	Biomarker	[6]
EXT2	OT8IR5QN	Limited	Genetic Variation	[7]
EXTL2	OT8U672K	Limited	Altered Expression	[8]
EXTL3	OT2BRUBN	Limited	Altered Expression	[8]
GNS	OTNFKYGB	Limited	Genetic Variation	[9]
SUMF1	OTALXO2A	moderate	Biomarker	[10]
HGSNAT	OTXPCELL	Strong	Genetic Variation	[4]
MPEG1	OT7DAO0F	Strong	Biomarker	[3]
RPS27	OTFXKY7P	Strong	Biomarker	[3]
SLC26A11	OTWBV9CR	Strong	Genetic Variation	[11]
SGSH	OTLSSEOS	Definitive	Autosomal recessive	[5]
------------------------------------------------------------------------------------


⏷ Show the Full List of 11 DOT(s)

References

1	Relationships among Height, Weight, Body Mass Index, and Age in Taiwanese Children with Different Types of Mucopolysaccharidoses.Diagnostics (Basel). 2019 Oct 14;9(4):148. doi: 10.3390/diagnostics9040148.
2	Early disease course is unaltered in mucopolysaccharidosis type IIIA (MPS IIIA) mice lacking -synuclein.Neuropathol Appl Neurobiol. 2019 Dec;45(7):715-731. doi: 10.1111/nan.12548. Epub 2019 Apr 25.
3	Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study.Clin Oral Investig. 2018 Apr;22(3):1541-1549. doi: 10.1007/s00784-017-2240-x. Epub 2017 Oct 18.
4	How close are we to therapies for Sanfilippo disease?.Metab Brain Dis. 2018 Feb;33(1):1-10. doi: 10.1007/s11011-017-0111-4. Epub 2017 Sep 18.
5	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.
6	Genetic manipulation of murine embryonic stem cells with enhanced green fluorescence protein and sulfatase-modifying factor I genes.Cytotherapy. 2010 May;12(3):400-7. doi: 10.3109/14653241003695026.
7	A genetic model of substrate reduction therapy for mucopolysaccharidosis.J Biol Chem. 2012 Oct 19;287(43):36283-90. doi: 10.1074/jbc.M112.403360. Epub 2012 Sep 5.
8	Gene silencing of EXTL2 and EXTL3 as a substrate deprivation therapy for heparan sulphate storing mucopolysaccharidoses.Eur J Hum Genet. 2010 Feb;18(2):194-9. doi: 10.1038/ejhg.2009.143. Epub 2009 Aug 19.
9	Polymorphic variants (p.Ser141Ser and p.Arg737Gly) at the NAGLU gene are really indicative of pseudodeficiency alleles?.Ital J Pediatr. 2019 May 14;45(1):60. doi: 10.1186/s13052-019-0657-3.
10	A Preclinical Study Evaluating AAVrh10-Based Gene Therapy for Sanfilippo Syndrome.Hum Gene Ther. 2016 May;27(5):363-75. doi: 10.1089/hum.2015.170.
11	Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA.Acta Crystallogr D Biol Crystallogr. 2014 May;70(Pt 5):1321-35. doi: 10.1107/S1399004714002739. Epub 2014 Apr 30.