General Information of Disease (ID: DISRQ6HW)

Disease Name Alanine glyoxylate aminotransferase deficiency
Synonyms AGXT defect; alanine glyoxylate aminotransferase deficiency; AGXT deficiency
Definition Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGXT gene.
Disease Hierarchy
DISXO7KT: Disorder of glyoxylate metabolism
DISRQ6HW: Alanine glyoxylate aminotransferase 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
AGXT OTIPTH3Q Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

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.