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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Hereditary xanthinuria | |
| Synonyms |
Classic xanthinuria Xanthic urolithiasis Xanthine stone disease |
|
| Definitions |
A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_3467 |
|
| alternative_term |
Classic xanthinuria Xanthic urolithiasis Xanthine stone disease
|
|
| definition |
A rare purine metabolism disorder due to inherited deficiency of the xanthine dehydrogenase/oxidase enzyme and is characterized by very low (or undetectable) concentrations of uric acid in blood and urine and very high concentration of xanthine in urine, leading to urolithiasis.
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| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=3467 |
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| has_age_of_onset |
All ages
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|
| has_inheritance |
Autosomal recessive
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|
| hasDbXref |
ICD-10:E79.8 OMIM:603592 ICD-11:5C55.00 OMIM:278300
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|
| label |
Hereditary xanthinuria
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|
| notation |
ORPHA:3467
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|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_3467
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|
| prefLabel |
Hereditary xanthinuria
|
|
| present_in |
Europe AND has_annual_incidence_average_value : 9.05 AND has_annual_incidence_range : 1-9 / 100 000 Worldwide AND has_cases/families_value : 150.0 (Case(s)) Worldwide AND has_point_prevalence_range : Unknown
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| treeView | ||
| subClassOf |
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