ORPHA:976
Adenine phosphoribosyltransferase deficiency
Synonyms: 2,8-dihydroxyadenine urolithiasis · APRT deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Adult, Childhood, Elderly, Infancy
- Status
- active
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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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adenine phosphoribosyltransferase deficiency | 2,8-dihydroxyadenine urolithiasis · APRT deficiency |
| fr | Déficit en adénosine phosphoribosyltransférase | Déficit en APRT · Lithiase urinaire par la 2,8-dihydroxyadénine |
| de | Adenin-Phosphoribosyl-Transferase-Mangel | |
| es | Deficiencia de adenina fosforribosiltransferasa | |
| it | Deficit di adenina fosforibosiltrasferasi | 2,8-diidrossiadenina urolitiasi · Deficit di APRT |
| nl | Adeninefosforibosyltransferasedeficiëntie | 2,8-dihydroxyadenine-urolithiasis · APRT-deficiëntie |
| pt | Deficiência de adenina fosforribosiltransferase | Urolitíase 2,8-diidroxi-adenina · Urolitíase 2,8-diidroxiadenina |
| pl | Niedobór fosforybozylotransferazy adeniny | Kamica 2,8 dihydroksyadeninowa · Kamica 2,8 dihydroksyadeninowa · Niedobór APRT · Niedobór fosforybozylotransferazy adeninowej · Kamica 2,8 dihydroksyadeninowa |
| cs | Deficit adeninfosforibosyltransferázy | 2,8-dihydroxyadeninová urolitiáza · Deficit APRT |
| uk | Дефіцит аденінфосфорибозилтрансферази | 2,8-дигідроксиаденін сечокамяна хвороба · Дефіцит APRT |
| zh | 腺嘌呤磷酸核糖基转移酶缺乏症 | 2,8-二羟基腺嘌呤尿路结石症 |
| tr | Adenin fosforibosiltransferaz eksikliği | APRT eksikliği · 2,8-dihidroksiadenin ürolitiyazis |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614723 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | index | validated |
| MONDO | 0013869 | E | validated | |
| MeSH | C538228 | E | validated | |
| UMLS | C0268120 | E | validated | |
| GARD | 546 | E | validated | |
| MedDRA | 10072609 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:79191Disorder of purine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:93593Nephropathy secondary to a storage or other metabolic disease
rare genetic diseases; rare renal diseases - ORPHA:506213Rare disorder potentially indicated for kidney transplant
rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| APRT | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:626 | ENSG00000198931 | 102600 | 16q24.3 | adenine phosphoribosyltransferase | 22934314[PMID]_22700886[PMID] |
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Prevalence and incidence
4 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Not yet validated | ORPHANET |
| Point prevalence | 1-9 / 100 000 | 1.5 / 100 000 | Specific population | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 3.7 / 100 000 | Japan | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-9 / 100 000 | 6.7 / 100 000 | Iceland | Value and class | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
18 annotations · validated 2020-02-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0012622 | Chronic kidney disease | |
| HP:0100518 | Dysuria | |
| HP:0000822 | Hypertension | |
| HP:0000787 | Nephrolithiasis | |
| HP:0000093 | Proteinuria | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0011848 | Abdominal colic | |
| HP:0005110 | Atrial fibrillation | |
| HP:0030157 | Flank pain | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0100520 | Oliguria | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0003774 | Stage 5 chronic kidney disease | |
| HP:0000791 | Uric acid nephrolithiasis | |
| HP:0000019 | Urinary hesitancy | |
| HP:0000016 | Urinary retention | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 22934314[PMID]_30993240[PMID]_31440706[PMID]_31378568[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/976
- This record as JSON: /data/d/976.json