Details of Disease

General Information of Disease (ID: DISH5D5W)

Disease Name Mucopolysaccharidosis type 3C
Synonyms
Mucopoly-saccharidosis type 3C; mucopolysaccharidosis, type IIIC; MPS 3C; Acetyl-CoA alpha-glucosaminide n-acetyltransferase deficiency; mucopolysaccharidosis, type 3C; acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiency; MPS IIIC; Sanfilippo syndrome C; mucopolysaccharidosis type IIIC; MPS3C; mucopolysaccharidosis type IIIC (Sanfilippo C); HGSNAT deficiency; MPS III C; Sanfilippo C; heparan-alpha-glucosaminide N-acetyltransferase deficiency; mucopolysaccharidosis type 3C; Sanfilippo syndrome type C; MPSIIIC
Definition
A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme acetyl-CoA:alpha-glucosaminide acetyltransferase. 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
DISH5D5W: Mucopolysaccharidosis type 3C
Disease Identifiers
MONDO ID
MONDO_0009657
MESH ID
D009084
UMLS CUI
C0086649
OMIM ID
252930
MedGen ID
39477
Orphanet ID
79271
SNOMED CT ID
75238000

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
NAGLU TTDM6HZ Limited Genetic Variation [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EXTL2 OT8U672K Limited Biomarker [2]
EXTL3 OT2BRUBN Limited Biomarker [2]
GNS OTNFKYGB Limited Genetic Variation [1]
HGSNAT OTXPCELL Definitive Autosomal recessive [3]
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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 EXTL2 and EXTL3 inhibition with siRNAs as a promising substrate reduction therapy for Sanfilippo C syndrome.Sci Rep. 2015 Sep 8;5:13654. doi: 10.1038/srep13654.
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.