ORPHA:3222
Phosphoribosylpyrophosphate synthetase superactivity
Synonyms: PRPP synthetase superactivity · PRPS1 superactivity
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Adolescent, Adult, Childhood, Infancy, Neonatal
- Status
- active
A rare X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprised of two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies and a mild late-onset form with no neurologic involvement.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Phosphoribosylpyrophosphate synthetase superactivity | PRPP synthetase superactivity · PRPS1 superactivity |
| fr | Hyperactivité de la phosphoribosylpyrophosphate synthétase | Activité accrue de la PRPP synthétase · Activité accrue de la phosphoribosylpyrophosphatase synthétase · Hyperactivité de la PRPP synthétase |
| de | Phosphoribosylpyrophosphat-Synthetase-Überaktivität | PRPP-Synthetase-Überaktivität · PRPS1-Überaktivität |
| es | Hiperactividad de la fosforribosilpirofosfato-sintetasa | Hiperactividad de la PRPP sintetasa · Hiperactividad de la PRPS1 |
| it | Iperattività della fosforibosilpirofosfato sintetasi | Iperattività di PRPP sintetasi · Iperattività di PRPS1 |
| nl | Fosforibosylpyrofosfaat-synthetase-superactiviteit | PRPP-synthetase-superactiviteit · PRPS1-superactiviteit |
| pt | Hiperatividade da fosforribosilpirofosfato sintetase | Hiperatividade de PRPP · Hiperatividade de PRPS1 |
| pl | Nadczynność syntetazy fosforybozylo-pirofosforanowej | Nadczynność syntetazy PRPP · PRPS1 superactivity |
| cs | Superaktivita fosforibosylpyrofosfátsyntetázy | Superaktivita PRPP syntetázy · PRPS1 superaktivita |
| uk | Суперактивність фосфорибозилпірофосфатсинтетази | Суперактивність PRPP-синтетази · Суперактивність PRPS1 |
| zh | 磷酸核糖焦磷酸合成酶超活性 | PRPP合成酶超活性 |
| tr | Fosforibosilpirofosfat sentetaz süperaktivitesi | PRPS1 süperaktivitesi · PRPP sentetaz süperaktivitesi |
Definition in:
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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 | index | validated |
| MONDO | 0010395 | E | validated | |
| MeSH | C567064 | E | validated | |
| UMLS | C1970827 | E | validated | |
| GARD | 4337 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PRPS1 | ORPHA:411543Severe phosphoribosylpyrophosphate synthetase superactivity | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9462 | ENSG00000147224 | 311850 | Xq22.3 | phosphoribosyl pyrophosphate synthetase 1 | 20301734[PMID] |
| PRPS1 | ORPHA:411536Mild phosphoribosylpyrophosphate synthetase superactivity | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 families | Worldwide | Family(ies) | Validated | 23190330[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
13 annotations · validated 2017-10-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001251 | Ataxia | |
| HP:0002149 | Hyperuricemia | |
| HP:0000407 | Sensorineural hearing impairment | |
| Frequent (79-30%) | ||
| HP:0001679 | Abnormal aortic morphology | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000083 | Renal insufficiency | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0011675 | Arrhythmia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0000822 | Hypertension | |
| HP:0000486 | Strabismus | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3222
- This record as JSON: /data/d/3222.json