Details of Disease | DrugMAP

General Information of Disease (ID: DIS6XHJX)

Disease Name	Adenylosuccinate lyase deficiency
Synonyms	Adsl deficiency; ADSLD; adenylosuccinase lyase deficiency; ADSL deficiency; inborn (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity disorder; inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity; rare inborn error of (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity; adenylosuccinate lyase deficiency; adenylosuccinase deficiency
Definition	Adenylosuccinate lyase deficiency (ADSL deficiency) is a disorder of purine metabolism characterized by intellectual disability, psychomotor delay and/or regression, seizures, and autistic features.
Disease Hierarchy	DISQZI8H: Inborn disorder of purine metabolism DISFWXCM: Inborn disorder of amino acid metabolism DISO5FAY: Inborn error of metabolism DIS6XHJX: Adenylosuccinate lyase deficiency
Disease Identifiers	MONDO ID MONDO_0007068 MESH ID C538235 UMLS CUI C0268126 OMIM ID 103050 MedGen ID 78641 Orphanet ID 46 SNOMED CT ID 15285008

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
ADSL	OTSNJALL	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.