citrullinemia

Summary
Synonym
  • ASS deficiency
  • deficiency of citrulline-aspartate ligase
Definition
An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood.
Super Class
urea cycle disorder
Disease Ontology
DOID:9273
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
445 ASS1 argininosuccinate synthase 1
8604 SLC25A12 solute carrier family 25 member 12
10165 SLC25A13 solute carrier family 25 member 13
Displaying all 2 entries
Gene ID Gene Symbol Description Source
11898 Ass1 argininosuccinate synthetase 1
50799 Slc25a13 solute carrier family 25 (mitochondrial carrier, adenine nucleotide translocator), member 13
Displaying 1 entry
Gene ID Gene Symbol Description Source
43616 aralar1 aralar1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024