loading...| Preferred Name | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY | |
| Synonyms |
UROLITHIASIS, 2,8-DIHYDROXYADENINE APRTD UROLITHIASIS, DHA NEPHROLITHIASIS, DHA APRT DEFICIENCY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/614723 |
|
| altLabel |
UROLITHIASIS, 2,8-DIHYDROXYADENINE APRTD UROLITHIASIS, DHA NEPHROLITHIASIS, DHA APRT DEFICIENCY |
|
| cui |
C3665382 C0268120 |
|
| Gene Locus |
16q24.3 |
|
| Gene Symbol |
APRTD APRT |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU014570 http://purl.bioontology.org/ontology/OMIM/MTHU019716 http://purl.bioontology.org/ontology/OMIM/MTHU000623 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
614723 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY |
|
| Scope Statement |
Type I patients have undetectable APRT activity and are homozygous or compound heterozygous for null alleles [MISCELLANEOUS] Type II patients are usually Japanese and have significant APRT activity (10-25%) [MISCELLANEOUS] Caused by mutation in the adenine phosphoribosyltransferase gene (APRT, 102600.0001) [MOLECULAR BASIS] Approximately 85% of type II patients are homozygous for a missense mutation M136T (102600.0003) [MISCELLANEOUS] |
|
| tui |
T047 |