Details of Disease

General Information of Disease (ID: DIS6MQUG)

Disease Name	Argininosuccinate synthase deficiency
Synonyms	citrullinemia, type 1; CTNL1; citrullinemia 1; citrullinemia, classic; Citrullinuria; citrullinemia; argininosuccinic acid synthetase deficiency; CTLN1; ASS deficiency; citrullinemia type 1; argininosuccinic acid synthase deficiency; citrullinemia type I; argininosuccinate synthase deficiency; classic citrullinemia; argininosuccinate synthetase deficiency
Disease Class	5C50: Metabolism inborn error
Definition	Citrullinemia type I is a rare autosomal recessive urea cycle defect characterized biologically by hyperammonemia and clinically by progressive lethargy, poor feeding and vomiting in the neonatal form (Acute neonatal citrullinemia type I) and by variable hyperammonemia in the later-onset form (adult-onset citrullinemia type I).
Disease Hierarchy	DISKD7HM: Urea cycle disorder or inherited hyperammonemia DISX1GZ8: Citrullinemia DIS6MQUG: Argininosuccinate synthase deficiency
ICD Code	ICD-11 ICD-11: 5C50.A3
Disease Identifiers	MONDO ID MONDO_0008988 MESH ID D020159 UMLS CUI C4721769 OMIM ID 215700 MedGen ID 1648491 Orphanet ID 247525 SNOMED CT ID 1149103000

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Pegargiminase	DMQKFWX	Phase 3	Recombinant protein	[1]
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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
PRMT7	TTAR2P0	Strong	Genetic Variation	[2]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC25A13	DTDSYAQ	Strong	Genetic Variation	[3]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASS1	OT4ZMG0Q	Definitive	Autosomal recessive	[4]
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References

1	Clinical pipeline report, company report or official report of the Pharmaceutical Research and Manufacturers of America (PhRMA)
2	PRMT7 Interacts with ASS1 and Citrullinemia Mutations Disrupt the Interaction.J Mol Biol. 2017 Jul 21;429(15):2278-2289. doi: 10.1016/j.jmb.2017.05.026. Epub 2017 Jun 3.
3	A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.Eur J Pediatr. 2003 May;162(5):317-22. doi: 10.1007/s00431-003-1171-5. Epub 2003 Feb 27.
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.