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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/614723
http://purl.bioontology.org/ontology/OMIM/614723
|
|---|---|
| Preferred Name | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY |
| Synonyms |
UROLITHIASIS, 2,8-DIHYDROXYADENINE
APRTD
UROLITHIASIS, DHA
NEPHROLITHIASIS, DHA
APRT DEFICIENCY
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
UROLITHIASIS, 2,8-DIHYDROXYADENINE
APRTD
UROLITHIASIS, DHA
NEPHROLITHIASIS, DHA
APRT DEFICIENCY
|
|---|---|
| prefLabel | ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
|
| Gene Symbol |
APRTD
APRT
|
| 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]
|
| type | |
| Has manifestation | |
| tui | T047
|
| Gene Locus | 16q24.3
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 614723
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C3665382
C0268120
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |