Details of Disease

General Information of Disease (ID: DISQGR4F)

Disease Name Sialidosis type 1
Synonyms
cherry red spot myoclonus syndrome; myoclonus cherry red spot syndrome; sialidosis type I; Normomorphic sialidosis; normosomatic sialidosis; lipomucopolysaccharidosis; cherry-red spot-myoclonus syndrome
Definition
Sialidosis type 1 (ST-1) is a very rare lysosomal storage disease, and is the normosomatic form of sialidosis, characterized by gait abnormalities, progressive visual loss, bilateral macular cherry red spots and myoclonic epilepsy and ataxia, that usually presents in the second to third decade of life.
Disease Hierarchy
DISF3OAZ: Sialidosis
DIS2NALR: Familial mucolipidosis
DISQGR4F: Sialidosis type 1
Disease Identifiers
MONDO ID
MONDO_0019346
MESH ID
D009081
UMLS CUI
C0023806
MedGen ID
44174
Orphanet ID
812
SNOMED CT ID
723675006

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
MCOLN1 TT9XBVO Strong Biomarker [1]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEU1 OTH9BY8Y Supportive Autosomal recessive [2]
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References

1 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.
2 Molecular pathology of NEU1 gene in sialidosis. Hum Mutat. 2003 Nov;22(5):343-52. doi: 10.1002/humu.10268.