loading...| Preferred Name | Adenine phosphoribosyltransferase deficiency | |
| Synonyms |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
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| Definitions |
A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_976 |
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| alternative_term |
APRT deficiency 2,8-dihydroxyadenine urolithiasis |
|
| definition |
A rare genetic nephropathy secondary to a disorder of purine metabolism characterized by the formation and hyperexcretion of 2,8-dihydroxyadenine (2,8-DHA) in urine, causing urolithiasis and crystalline nephropathy. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=976 |
|
| has_age_of_onset |
Adolescent Adult Childhood Elderly Infancy |
|
| has_inheritance |
Autosomal recessive |
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| hasDbXref |
MedDRA:10072609 ICD-10:E79.8 OMIM:614723 MeSH:C538228 UMLS:C0268120 ICD-11:5C55.0Y |
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| label |
Adenine phosphoribosyltransferase deficiency |
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| notation |
ORPHA:976 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_506213 |
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| prefixIRI |
ORDO:Orphanet_976 |
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| prefLabel |
Adenine phosphoribosyltransferase deficiency |
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| present_in |
Iceland AND has_point_prevalence_average_value : 6.7 AND has_point_prevalence_range : 1-9 / 100 000 Europe AND has_point_prevalence_range : 1-9 / 100 000 Japan AND has_point_prevalence_average_value : 3.7 AND has_point_prevalence_range : 1-9 / 100 000 Specific population AND has_point_prevalence_average_value : 1.5 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_506213 |
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| subClassOf |