ORPHA:79233
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
Synonyms: HPRT deficiency, grade I · HPRT partial deficiency · HPRT-related gout · HPRT-related hyperuricemia · HPRT1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I · Kelley-Seegmiller syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- All ages
- Status
- active
A rare hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction leading to urolithiasis, and early-onset gout, and a continuum spectrum of neurological manifestations, depending on the degree of the enzyme deficiency, without self-injurious behavior.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypoxanthine guanine phosphoribosyltransferase partial deficiency | HPRT deficiency, grade I · HPRT partial deficiency · HPRT-related gout · HPRT-related hyperuricemia · HPRT1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I · Kelley-Seegmiller syndrome |
| fr | Déficit partiel en hypoxanthine guanine phosphoribosyltransférase | Déficit en HPRT grade I · Déficit en hypoxanthine-guanine phosphoribosyltransferase grade I · Déficit partiel en HPRT · Déficit partiel en HPRT1 · Déficit partiel en hypoxanthine guanine phosphoribosyltransférase 1 · Goutte associée à HPRT · Hyperuricémie associée à HPRT · Syndrome de Kelley-Seegmiller |
| de | Kelley-Seegmiller-Syndrom | HPRT-Mangel, Grad I · HPRT-Mangel, partieller · Hyperurikämie, HPRT-abhängige · Hypoxanthin-Guanin-Phosphoribosyltransferase-1-Mangel, partieller · Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel, partieller |
| es | Síndrome de Kelley-Seegmiller | Deficiencia de HPRT, grado 1 · Deficiencia de hipoxantina guanina fosforribosil transferasa, grado 1 · Deficiencia parcial de HPRT · Deficiencia parcial de HPRT1 · Deficiencia parcial de hipoxantina guanina fosforribosil transferasa · Deficiencia parcial de hipoxantina guanina fosforribosil transferasa 1 · Gota asociada a HPRT · Hiperuricemia asociada a HPRT |
| it | Sindrome di Kelley-Seegmiller | Deficit parziale di HPRT · Deficit parziale di HPRT1 · Deficit parziale di ipoxantina guanina fosforibosil transferasi · Deficit parziale di ipoxantina guanina fosforibosil transferasi I · Gotta associata a HPRT · Iperuricemia associata a HPRT · Deficit di HPRT, grado I · Deficit di ipoxantina guanina fosforibosil transferasi, grado I |
| nl | Partiële deficiëntie van hypoxanthine-guanine-fosforibosyltransferase | Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase, graad I · HPRT-deficiëntie, graad I · HPRT-gerelateerd jicht · HPRT-gerelateerde hyperurikemie · Partiële HPRT-deficiëntie · Partiële HPRT1-deficiëntie · Partiële deficiëntie van hypoxanthine-guanine-fosforibosyltransferase 1 · Syndroom van Kelley-Seegmiller |
| pt | Síndrome Kelley-Seegmiller | |
| pl | Zespół Kelley'a i Seegmillera | Częściowy Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej · Częściowy Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej 1 · Częściowy Niedobór HPRT · Częściowy Niedobór HPRT1 · HPRT-związana z hiperurykemią · HPRT-związane z jelitami · Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej, stopień I · Niedobór HPRT, stopień I |
| cs | Částečný deficit hypoxantin-guanin-fosforibosyltransferázy | HPRT-vázaná dna · HPRT-vázaná hyperurikémie · Parciální deficit HPRT1 · Deficit HPRT, stupeň I · Částečný deficit HPRT · Částečný deficit hypoxantin-guanin-fosforibosyltransferázy 1 · Deficit hypoxantin-guanin-fosforibosyltransferázy, stupeň I · Kelleyho-Seegmillerův syndrom · Kelley-Seegmillerův syndrom |
| uk | Часткова недостатність гіпоксантин-гуанін-фосфорибозилтрансферази | Дефіцит HPRT, ступінь I · Часткова недостатність HPRT · Часткова недостатність HPRT1 · Подагра, повязана з HPRT · Гіперурикемія, повязана з HPRT · Частковий дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази 1 · Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази, ступінь I · Синдром Келлі-Сігміллера |
| zh | 次黄嘌呤-鸟嘌呤磷酸核糖基转移酶部分缺陷症 | 次黄嘌呤-鸟嘌呤磷酸核糖基转移酶1部分缺乏 |
| tr | Hipoksantin guanin fosforiboziltransferaz kısmi eksikliği | HPRT-ilişkili gut · HPRT kısmi eksikliği · HPRT eksikliği, seviye I · HPRT1 kısmi eksikliği · HPRT-ilişkili hiperürisemi · Kelley-Seegmiller sendromu · Hipoksantin guanin fosforibosiltransferaz eksikliği, derece I · Hipoksantin guanin fosforibosiltransferaz 1 kısmi eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300323 | E | validated | |
| ICD-10 | E79.8 | NTBT | attributed | validated |
| ICD-11 | 5C55.0Y | NTBT | index | validated |
| MONDO | 0010299 | E | validated | |
| MeSH | C562583 | E | validated | |
| UMLS | C0268117 | 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:206428Hypoxanthine-guanine phosphoribosyltransferase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases; rare renal diseases; rare hematological diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HPRT1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:5157 | ENSG00000165704 | 308000 | Xq26.2-q26.3 | hypoxanthine phosphoribosyltransferase 1 | 10657589[PMID]_26073243[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | 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
18 annotations · validated 2019-08-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001332 | Dystonia | |
| HP:0002149 | Hyperuricemia | |
| HP:0003149 | Hyperuricosuria | |
| HP:0001249 | Intellectual disability | |
| HP:0000112 | Nephropathy | |
| Occasional (29-5%) | ||
| HP:0002071 | Abnormality of extrapyramidal motor function | |
| HP:0000707 | Abnormality of the nervous system | |
| HP:0001919 | Acute kidney injury | |
| HP:0100518 | Dysuria | |
| HP:0003259 | Elevated circulating creatinine concentration | |
| HP:0001263 | Global developmental delay | |
| HP:0001997 | Gout | |
| HP:0001347 | Hyperreflexia | |
| HP:0012587 | Macroscopic hematuria | |
| HP:0000083 | Renal insufficiency | |
| HP:0001250 | Seizure | |
| HP:0000791 | Uric acid nephrolithiasis | |
| Excluded (0%) | ||
| HP:0000742 | Self-mutilation | |
Annotation source: 5009592[PMID]_17687757[PMID]_18067674[PMID]_25420563[PMID]_28782500[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79233
- This record as JSON: /data/d/79233.json