primary hyperoxaluria type 1
GPTKB entity
Statements (33)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
rare disease |
| gptkbp:affects |
liver
kidneys |
| gptkbp:category |
urolithiasis
inborn error of metabolism |
| gptkbp:complication |
gptkb:systemic_oxalosis
end-stage renal disease |
| gptkbp:diagnosedBy |
genetic testing
urine oxalate measurement |
| gptkbp:enzymeDeficiency |
gptkb:alanine-glyoxylate_aminotransferase
|
| gptkbp:firstDescribed |
1925
|
| gptkbp:frequency |
1-3 per million people
|
| https://www.w3.org/2000/01/rdf-schema#label |
primary hyperoxaluria type 1
|
| gptkbp:ICD-10_code |
E72.53
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:MeSH_ID |
D006871
|
| gptkbp:mutationAssociatedWith |
gptkb:AGXT_gene
|
| gptkbp:OMIM |
259900
|
| gptkbp:onset |
childhood
infancy |
| gptkbp:symptom |
renal failure
urinary tract infection hematuria kidney stones nephrocalcinosis |
| gptkbp:treatment |
kidney transplantation
liver transplantation hydration pyridoxine oxalate-restricted diet |
| gptkbp:bfsParent |
gptkb:Oxlumo
|
| gptkbp:bfsLayer |
7
|