Details of Disease

General Information of Disease (ID: DISQUYLN)

Disease Name Mucopolysaccharidosis type 3D
Synonyms
Mucopoly-saccharidosis type 3D; N-acetylglucosamine-6-sulfatase deficiency; N-acetylglucosamine-6-sulfate sulfatase deficiency; MPS 3D; mucopolysaccharidosis, type 3D; MPS IIID; mucopolysaccharidosis, type IIID; MPS3D; MPS III D; glucosamine N-acetyl-6-sulfatase deficiency; mucopolysaccharidosis type 3D; mucopolysaccharidosis type IIID; Sanfilippo syndrome D; MPSIIID; Sanfilippo syndrome type D; Sanfilippo D; GNS deficiency
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetylglucosamine-6-sulfatase. 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
DISQUYLN: Mucopolysaccharidosis type 3D
Disease Identifiers
MONDO ID
MONDO_0009658
MESH ID
D009084
UMLS CUI
C0086650
OMIM ID
252940
MedGen ID
88602
Orphanet ID
79272
SNOMED CT ID
15892005

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
SGSH TTPJ2SH Limited Biomarker [1]
NAGLU TTDM6HZ Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HGSNAT OTXPCELL Limited Biomarker [1]
GNS OTNFKYGB Definitive Autosomal recessive [2]
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References

1 Glycosaminoglycans and mucopolysaccharidosis type III.Front Biosci (Landmark Ed). 2016 Jun 1;21(7):1393-409. doi: 10.2741/4463.
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.