loading...| Preferred Name |
Adenine phosphoribosyltransferase deficiency |
|
| Synonyms |
Urolithiasis, 2,8-Dihydroxyadenine DHA Crystalline Nephropathy APRT Deficiency 2,8-Dihydroxyadeninuria 2,8-Dihydroxyadenine Urolithiasis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C538228 |
|
| altLabel |
Urolithiasis, 2,8-Dihydroxyadenine DHA Crystalline Nephropathy APRT Deficiency 2,8-Dihydroxyadeninuria 2,8-Dihydroxyadenine Urolithiasis |
|
| cui |
C3665382 C0268120 |
|
| Has mapping qualifier | ||
| HM |
D052878 D000228/Q000172 D008661 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D052878 |
|
| MDA |
20100625 |
|
| MeSH Frequency |
51 |
|
| MMR |
20150817 |
|
| notation |
C538228 |
|
| prefLabel |
Adenine phosphoribosyltransferase deficiency |
|
| SC |
3 |
|
| Scope Statement |
An autosomal recessive metabolic disorder that can lead to accumulation of the insoluble purine 2,8-dihydroxyadenine (DHA) in the KIDNEY, resulting in crystalluria and KIDNEY STONES. Clinical features include RENAL COLIC; HEMATURIA; URINARY TRACT INFECTION; DYSURIA, and sometimes RENAL FAILURE. The age at onset can range from 5 months to late adulthood; however, as many as 50% of APRT-deficient individuals may be asymptomatic. Caused by mutations in the APRT gene. OMIM: 614723 |
|
| TERMUI |
T745130 T840823 T800994 T826060 T844667 T840822 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |