Details of Disease | DrugMAP

General Information of Disease (ID: DISL14D6)

Disease Name	Hyperammonemia due to N-acetylglutamate synthase deficiency
Synonyms	NAG synthetase deficiency; N-acetyl glutamate synthetase deficiency; NAGSD; N-acetylglutamate synthase deficiency; hyperammonemia due to N-acetylglutamate synthetase deficiency; Nags deficiency; N-acetylglutamate synthetase deficiency; hyperammonemia due to N-acetylglutamate synthase deficiency; NAGS deficiency
Definition	N-acetylglutamate synthase (NAGS) deficiency is a urea cycle disorder leading to hyperammonaemia.
Disease Hierarchy	DISKD7HM: Urea cycle disorder or inherited hyperammonemia DISL14D6: Hyperammonemia due to N-acetylglutamate synthase deficiency
Disease Identifiers	MONDO ID MONDO_0009377 MESH ID C536109 UMLS CUI C0268543 OMIM ID 237310 MedGen ID 120649 Orphanet ID 927 SNOMED CT ID 57119000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
NAGS	DEGI1A9	Definitive	Autosomal recessive	[1]
NAGS	DEGI1A9	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAGS	OTITB7DO	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.
2	N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0.