Details of Disease

General Information of Disease (ID: DISHZQ6A)

Disease Name Congenital sialidosis type 2
Disease Hierarchy
DIS5ZHNR: Sialidosis type 2
DISHZQ6A: Congenital sialidosis type 2
Disease Identifiers
MONDO ID
MONDO_0019682
UMLS CUI
C5681599
MedGen ID
1843300
Orphanet ID
93400

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 Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expression. Hum Mutat. 2004 Jan;23(1):32-9. doi: 10.1002/humu.10278.