Details of Disease

General Information of Disease (ID: DISZ3IBZ)

Disease Name Aspartylglucosaminuria
Synonyms
Aga deficiency; AGU; Glycoasparaginase; Aspartylglucosamidase (AGA) deficiency; aspartylglycosaminuria; aspartylglucosaminuria; Aspartylglycosaminuria; glycosylasparaginase deficiency; aspartylglucosaminidase deficiency
Definition Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).
Disease Hierarchy
DISZHA63: Lysosomal storage disease with skeletal involvement
DISFKZGQ: Oligosaccharidosis
DISZ3IBZ: Aspartylglucosaminuria
Disease Identifiers
MONDO ID
MONDO_0008830
MESH ID
D054880
UMLS CUI
C0268225
OMIM ID
208400
MedGen ID
78649
HPO ID
HP:0012068
Orphanet ID
93
SNOMED CT ID
54954004

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
AGA OTNWT1WB 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.