ORPHA:411536
Mild phosphoribosylpyrophosphate synthetase superactivity
Synonyms: Mild PRPP synthetase superactivity · Mild PRPS1 superactivity
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult
- Status
- active
A mild form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by adolescent or early adult-onset hyperuricemia and hyperuricosuria, leading to urolithiasis and gout.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mild phosphoribosylpyrophosphate synthetase superactivity | Mild PRPP synthetase superactivity · Mild PRPS1 superactivity |
| fr | Hyperactivité de la phosphoribosylpyrophosphate synthétase modérée | Hyperactivité de la PRPP synthétase modérée · Hyperactivité de la PRPS1 modérée |
| de | Phosphoribosylpyrophosphat-Synthetase-Überaktivität, milde | |
| es | Hiperactividad leve de la fosforibosilpirofosfato sintetasa | Hiperactividad leve de la PRPP sintetasa · Hiperactividad leve de la PRPS1 |
| it | Lieve iperattività della fosforibosilpirofosfato sintetasi | Lieve iperattività della PRPP sintetasi · Lieve iperattività di PRPS1 |
| nl | Milde fosforibosylpyrofosfaat-synthetase-superactiviteit | Milde PRPP-synthetase-superactiviteit · Milde PRPS1-superactiviteit |
| pt | Hiperatividade ligeira da fosforribosilpirofosfatase sintetase | Hiperatividade ligeira da PRPS1 · Hiperatividade ligeira da PRPP sintetase |
| pl | Łagodna nadczynność syntetazy fosforybozylopirofosforanu | Łagodna nadczynność PRPS1 · Łagodna nadczynność syntetazy PRPP |
| cs | Mírně zvýšená aktivita fosforibosylpyrofosfátsyntetázy | Mírná superaktivita PRPP syntetázy · Mírná superaktivita PRPS1 |
| uk | Помірна суперактивність фосфорибозилпірофосфатсинтетази | Помірна суперактивність PRPP-синтетази · Помірна суперактивність PRPS1 |
| zh | 轻度磷酸核糖焦磷酸合成酶超活性 | 轻度PRPP合成酶超活性 |
| tr | Hafif fosforibosilpirofosfat sentetaz süperaktivitesi | Hafif PRPS1 süperaktivitesi · Hafif PRPP sentetaz süperaktivitesi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300661 | NTBT | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | attributed | validated |
| MONDO | 0018463 | E | validated | |
| UMLS | C5680016 | 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 (1):
- ORPHA:3222Phosphoribosylpyrophosphate synthetase superactivity
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare renal diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPS1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301734PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
15 annotations · validated 2020-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002149 | Hyperuricemia | |
| HP:0003149 | Hyperuricosuria | |
| HP:0003240 | Increased phosphoribosylpyrophosphate synthetase activity | |
| Frequent (79-30%) | ||
| HP:0001369 | Arthritis | |
| HP:0020074 | Crystalluria | |
| HP:0000791 | Uric acid nephrolithiasis | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0000083 | Renal insufficiency | |
| HP:0012626 | Stage 4 chronic kidney disease | |
| Very rare (<4-1%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| Excluded (0%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000478 | Abnormality of the eye | |
| HP:0001249 | Intellectual disability | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0000407 | Sensorineural hearing impairment | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30423175[PMID]_20301734[PMID]_26089585[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411536
- This record as JSON: /data/d/411536.json