Details of Disease

General Information of Disease (ID: DISSOMMH)

• Disease Name: Carbamoyl phosphate synthetase I deficiency disease
• Synonyms: hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; carbamoyl phosphate synthetase 1 deficiency, hyperammonemia due to; carbamoyl phosphate synthetase 1 deficiency; carbamyl phosphate synthetase (CPS) deficiency; carbamoyl phosphate synthetase I deficiency, hyperammonemia due to; CPS 1 deficiency; carbamoyl-phosphate synthetase 1 deficiency; carbamoyl-phosphate synthetase I deficiency; carbamoyl phosphate synthetase I deficiency disease; carbamoylphosphate synthetase I deficiency; CPS1D; CPS I deficiency; carbamoyl-phosphate synthase deficiency disease; carbamoyl phosphate synthetase deficiency; carbamoyl-phosphate synthetase deficiency; CPS1 deficiency
• Definition: Carbamoyl-phosphate synthetase 1 deficiency (CPS1D) is a rare and severe disorder of urea cycle metabolism most commonly characterized by either a neonatal-onset of severe hyperammonemia that occurs few days after birth and manifests with lethargy, vomiting, hypothermia, seizures, coma and death or a presentation outside the newborn period at any age with (sometimes) milder symptoms of hyperammonemia.
• Disease Hierarchy:
  DISKD7HM: Urea cycle disorder or inherited hyperammonemia
  DISSOMMH: Carbamoyl phosphate synthetase I deficiency disease
• Disease Identifiers:
  MONDO ID: MONDO_0009376
  MESH ID: D020165
  UMLS CUI: C4082171
  OMIM ID: 237300
  MedGen ID: 907954
  Orphanet ID: 147

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CPS1	TT42M75	Limited	Altered Expression	[1]
CPS1	TT42M75	Definitive	Autosomal recessive	[2]

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASL	OTI2NGQR	Strong	Genetic Variation	[3]
CPS1	OTXV8NSR	Definitive	Autosomal recessive	[2]

References

• [1] Conditional disruption of hepatic carbamoyl phosphate synthetase 1 in mice results in hyperammonemia without orotic aciduria and can be corrected by liver-directed gene therapy.Mol Genet Metab. 2018 Aug;124(4):243-253. doi: 10.1016/j.ymgme.2018.04.001. Epub 2018 Apr 12.
• [2] 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.
• [3] 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.