Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:urea_cycle_disorder
genetic disorder |
| gptkbp:affects |
gptkb:nervous_system
liver |
| gptkbp:alsoKnownAs |
gptkb:CTLN2
gptkb:adult-onset_citrullinemia |
| gptkbp:biochemicalFeature |
elevated ammonia
elevated citrulline |
| gptkbp:deficiencyCauses |
gptkb:citrin_protein
|
| gptkbp:firstDescribed |
1980
|
| https://www.w3.org/2000/01/rdf-schema#label |
Citrullinemia type II
|
| gptkbp:ICD-10_code |
E72.2
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:SLC25A13_gene
|
| gptkbp:OMIM |
603471
|
| gptkbp:onset |
adulthood
neonatal period |
| gptkbp:prevalence |
higher in East Asian populations
|
| gptkbp:symptom |
confusion
vomiting coma seizures lethargy hyperammonemia |
| gptkbp:treatment |
dietary management
liver transplant |
| gptkbp:bfsParent |
gptkb:ENSG00000198947
|
| gptkbp:bfsLayer |
6
|