Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
Resources Genes Glycoproteins Lectins Glycolipids Glycans Pathways Diseases Organisms
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
Other Information
Release Statistics Download
Tools
SugarDrawer GlycanBuilder Glycan Converters GlycoMaple GlycomeAtlas LM-GlycomeAtlas GALAXY MCAW GlycoSim GRable
Search Tools
Cross Search Glycan Search Publication Search Programmatic Access
Standards Ontologies Notations
carbamoyl phosphate synthetase I deficiency disease

Summary
Synonym
  • CPS I deficiency
Definition
A urea cycle disorder that involves accumulation of ammonia in the blood.
Super Class
autosomal recessive disease urea cycle disorder
Disease Ontology
DOID:9280
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
790 CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
1373 CPS1 carbamoyl-phosphate synthase 1
Displaying all 2 entries
Gene ID Gene Symbol Description Source
69719 Cad carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
227231 Cps1 carbamoyl-phosphate synthetase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
497840 Cps1 carbamoyl-phosphate synthase 1
About Release Notes Help Feedback
International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International

GlyCosmos Portal v4.1.0

Last updated: December 9, 2024