Details of Disease | DrugMAP

General Information of Disease (ID: DIS3R7SS)

Disease Name	N-acetylaspartate deficiency
Synonyms	NACED; hypoacetylaspartia; naa deficiency; N-acetylaspartate deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DIS3R7SS: N-acetylaspartate deficiency
Disease Identifiers	MONDO ID MONDO_0013549 UMLS CUI C3279716 OMIM ID 614063 MedGen ID 481346

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
NAT8L	OTA96AVN	Limited	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.