Details of Disease

General Information of Disease (ID: DISUSV7Y)

Disease Name Juvenile sialidosis type 2
Synonyms dysmorphic sialidosis, juvenile form
Disease Hierarchy
DIS5ZHNR: Sialidosis type 2
DISUSV7Y: Juvenile sialidosis type 2
Disease Identifiers
MONDO ID
MONDO_0019681
UMLS CUI
C5681598
MedGen ID
1825999
Orphanet ID
93399

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
NEU1 OTH9BY8Y Supportive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Type II sialidosis: review of the clinical spectrum and identification of a new splicing defect with chitotriosidase assessment in two patients. J Neurol. 2009 Nov;256(11):1911-5. doi: 10.1007/s00415-009-5213-4. Epub 2009 Jul 1.