Severe phosphoribosylpyrophosphate synthetase superactivity
Synonyms: Severe PRPP synthetase superactivity · Severe PRPS1 superactivity
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked recessive
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A severe form of phosphoribosylpyrophosphate (PRPP) synthetase superactivity, an X-linked disorder of purine metabolism, characterized by early onset hyperuricemia and hyperuricosuria, and clinically manifesting with urolithiasis, gout and neurodevelopmental anomalies consisting of variable combinations of sensorineural hearing loss, hypotonia, and ataxia.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe phosphoribosylpyrophosphate synthetase superactivity | Severe PRPP synthetase superactivity · Severe PRPS1 superactivity |
| fr | Hyperactivité de la phosphoribosylpyrophosphate synthétase sévère | Hyperactivité de la PRPP synthétase sévère · Hyperactivité de la PRPS1 sévère |
| de | Phosphoribosylpyrophosphat-Synthetase-Überaktivität, schwere | |
| es | Hiperactividad grave de la fosforribosilpirofosfato-sintetasa | Hiperactividad grave de la PRPP sintetasa · Hiperactividad grave de la PRPS1 |
| it | Grave iperattività della fosforibosilpirofosfato sintetasi | Grave iperattività della PRPP sintetasi · Grave iperattività di PRPS1 |
| nl | Ernstige fosforibosylpyrofosfaat-synthetase-superactiviteit | Ernstige PRPP-synthetase-superactiviteit · Ernstige PRPS1-superactiviteit |
| pt | Superactividade grave da fosforribosilpirofosfato sintetase | |
| pl | Ciężka nadczynność syntetazy fosforybozylopirofosforanu | Ciężka nadczynność PRPS1 · Ciężka nadczynność syntetazy PRPP |
| cs | Významně zvýšená aktivita fosforibosylpyrofosfátsyntetázy | Težká superaktivita PRPS1 · Těžká superaktivita PRPP syntetázy · Těžká superaktivita PRPS1 |
| uk | Виражена суперактивність фосфорибозилпірофосфатсинтетази | Виражена суперактивність PRPP-синтетази · Сильна суперактивність PRPS1 |
| zh | 严重磷酸核糖焦磷酸合成酶超活性 | 重度PRPP合成酶超活性 |
| tr | Ağır fosforibosilpirofosfat sentetaz süperaktivitesi | Ağır PRPS1 süperaktivitesi · Ağır PRPP sentetaz süperaktivitesi |
Definition in:
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 | 0018464 | E | validated | |
| UMLS | C5680017 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:3222Phosphoribosylpyrophosphate synthetase superactivity
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare renal diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRPS1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301734[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 20301734[PMID]_ORPHANET |
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 20301734[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
21 annotations · validated 2020-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001997 | Gout | |
| HP:0002149 | Hyperuricemia | |
| HP:0003240 | Increased phosphoribosylpyrophosphate synthetase activity | |
| HP:0012759 | Neurodevelopmental abnormality | |
| HP:0000791 | Uric acid nephrolithiasis | |
| Frequent (79-30%) | ||
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001369 | Arthritis | |
| HP:0020074 | Crystalluria | |
| HP:0003149 | Hyperuricosuria | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000083 | Renal insufficiency | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0001251 | Ataxia | |
| HP:0007178 | Motor polyneuropathy | |
| HP:0009830 | Peripheral neuropathy | |
| Very rare (<4-1%) | ||
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0000545 | Myopia | |
| HP:0002205 | Recurrent respiratory infections | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 20301734[PMID]_20005278[PMID]_26089585[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411543
- This record as JSON: /data/d/411543.json