Details of Disease

General Information of Disease (ID: DISAGUMY)

Disease Name	Arginase 1 deficiency
Synonyms	Arg1 deficiency; hyperargininemia; argininemia; deficiency of canavanase; arginase deficiency
Disease Class	5C50: Metabolism inborn error
Definition	Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterized clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.
Disease Hierarchy	DISKD7HM: Urea cycle disorder or inherited hyperammonemia DISAGUMY: Arginase 1 deficiency
ICD Code	ICD-11 ICD-11: 5C50.A2
Disease Identifiers	MONDO ID MONDO_0008814 MESH ID D020162 UMLS CUI C0268548 OMIM ID 207800 MedGen ID 78688 Orphanet ID 90 SNOMED CT ID 23501004

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pegzilarginase	DMLI2DZ	Phase 3	Enzyme replacement	[1]
AEB1102	DMB5CKZ	Phase 2	NA	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ARG1	TT7ZQEV	Definitive	Biomarker	[3]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ARG1	DEV0J5F	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
MED23	OTKZQT0R	moderate	Genetic Variation	[5]
ASL	OTI2NGQR	Strong	Genetic Variation	[6]
ARG1	OTHZITAM	Definitive	Autosomal recessive	[4]
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References

1	ClinicalTrials.gov (NCT03921541) Efficacy and Safety of Pegzilarginase in Patients With Arginase 1 Deficiency. U.S. National Institutes of Health.
2	ClinicalTrials.gov (NCT03378531) A Study of AEB1102 (Pegzilarginase) in Patients With Arginase I Deficiency (AEB1102). U.S. National Institutes of Health.
3	Sodium phenylbutyrate improved the clinical state in an adult patient with arginase 1 deficiency.Brain Dev. 2020 Feb;42(2):231-235. doi: 10.1016/j.braindev.2019.09.002. Epub 2019 Oct 8.
4	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.
5	Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.J Inherit Metab Dis. 2016 May;39(3):331-340. doi: 10.1007/s10545-016-9928-y. Epub 2016 Apr 1.
6	Hereditary urea cycle diseases in Finland.Acta Paediatr. 2008 Oct;97(10):1412-9. doi: 10.1111/j.1651-2227.2008.00923.x. Epub 2008 Jul 9.