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 |