Details of Disease | DrugMAP

General Information of Disease (ID: DISJZCJ4)

Disease Name	Alpha-N-acetylgalactosaminidase deficiency
Synonyms	Schindler disease; disorder of alpha-N-acetylgalactosaminidase activity; alpha-N-acetylgalactosaminidase activity disease; NAGA deficiency
Definition	Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity.
Disease Hierarchy	DISWD40R: Disease DISFKZGQ: Oligosaccharidosis DISJZCJ4: Alpha-N-acetylgalactosaminidase deficiency

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
NAGA	OTNUEUZY	Definitive	Autosomal recessive	[1]
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References

1	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.