Details of Disease | DrugMAP

General Information of Disease (ID: DISKZTPI)

Disease Name	Aminoacylase 1 deficiency
Synonyms	deficiency of the aminoacylase-1 enzyme; ACY1 deficiency; neurological conditions associated with aminoacylase 1 deficiency; N-acyl-L-amino acid amidohydrolase deficiency; ACY1D; aminoacylase 1 deficiency
Definition	Aminoacylase 1 deficiency (ACY1D) is an inborn error of metabolism marked by a characteristic pattern of urinary N-acetyl amino acid excretion and neurologic symptoms.
Disease Hierarchy	DISFWXCM: Inborn disorder of amino acid metabolism DISHT1DZ: Inborn aminoacylase deficiency DISKZTPI: Aminoacylase 1 deficiency
Disease Identifiers	MONDO ID MONDO_0012368 MESH ID C538246 UMLS CUI C1835922 OMIM ID 609924 MedGen ID 324393 Orphanet ID 137754 SNOMED CT ID 709282004

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
ACY1	OT9WU7X3	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.