Details of Disease

General Information of Disease (ID: DISF3OAZ)

• Disease Name: Sialidosis
• Definition: Sialidosis is a lysosomal storage disease, belonging to the group of oligosaccharidoses or glycoproteinoses, with a wide clinical spectrum that is divided into two main clinical subtypes: sialidosis type I, the milder, non dysmorphic form of the disease characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonus, that presents in adolescence or adulthood (second or third decade of life); and sialidosis type II the more severe, early onset form, characterized by a progressive and severe mucopolysaccharidosis-like phenotype with coarse facies, visceromegaly, dysostosis multiplex, and developmental delay. Bilateral macular cherry red spots are also present. Sialidosis type II has been further divided into congenital (with hydrops fetalis), infantile and juvenile presentations.
• Disease Hierarchy:
  DISFKZGQ: Oligosaccharidosis
  DISF3OAZ: Sialidosis
• Disease Identifiers:
  MONDO ID: MONDO_0017734
  MESH ID: D009081
  UMLS CUI: C0268226
  MedGen ID: 120621
  Orphanet ID: 309294
  SNOMED CT ID: 38795005

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLB1	TTNGJPH	Limited	Biomarker	[1]
CTSA	TT5NILS	Strong	Genetic Variation	[2]
CYP21A2	TTP4GLG	Strong	CausalMutation	[3]
EGFL7	TT7WD0H	Strong	Genetic Variation	[4]
MCOLN1	TT9XBVO	Strong	Biomarker	[5]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NEURL1	OT2C4P70	Limited	Genetic Variation	[4]
NEU1	OTH9BY8Y	Definitive	Autosomal recessive	[6]

References

• [1] Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders.Biochem Biophys Res Commun. 2015 Feb 20;457(4):554-60. doi: 10.1016/j.bbrc.2015.01.023. Epub 2015 Jan 16.
• [2] Molecular mechanisms of pathogenesis in a glycosphingolipid and a glycoprotein storage disease.Biochem Soc Trans. 2010 Dec;38(6):1453-7. doi: 10.1042/BST0381453.
• [3] Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.Neurology. 2014 Jun 3;82(22):2003-6. doi: 10.1212/WNL.0000000000000482. Epub 2014 May 7.
• [4] Generation of novel induced pluripotent stem cell (iPSC) line from a 16-year-old sialidosis patient with NEU-1 gene mutation.Stem Cell Res. 2018 Apr;28:39-43. doi: 10.1016/j.scr.2018.01.024. Epub 2018 Jan 31.
• [5] Reconstitution of lysosomal NAADP-TRP-ML1 signaling pathway and its function in TRP-ML1(-/-) cells.Am J Physiol Cell Physiol. 2011 Aug;301(2):C421-30. doi: 10.1152/ajpcell.00393.2010. Epub 2011 May 25.
• [6] 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.