ORPHA:510
Lesch-Nyhan syndrome
Synonyms: HPRT complete deficiency · HPRT deficiency grade IV · Hypoxanthine guanine phosphoribosyltransferase complete deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
A form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency characterized by uric acid overproduction, severe motor dysfunction, intellectual disability, and self-injurious behaviour (SIB).
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lesch-Nyhan syndrome | HPRT complete deficiency · HPRT deficiency grade IV · Hypoxanthine guanine phosphoribosyltransferase complete deficiency · Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV |
| fr | Syndrome de Lesch-Nyhan | Déficit complet en HPRT · Déficit complet en hypoxanthine guanine phosphoribosyltransférase · Déficit en HPRT grade IV · Déficit en hypoxanthine guanine phosphoribosyltransférase grade IV |
| de | Lesch-Nyhan-Syndrom | HPRT-Mangel vom Grad IV · HPRT-Mangel, kompletter · Hypoxanthin-Guanin-Phosphoribosyltransferase-Mangel, Grad IV |
| es | Síndrome de Lesch-Nyhan | Deficiencia completa de HPRT · Deficiencia completa de hipoxantina guanina fosforribosiltransferasa · Deficiencia de HPRT, grado 4 · Deficiencia de hipoxantina guanina fosforribosiltransferasa, grado 4 |
| it | Sindrome di Lesch-Nyhan | Deficit completo di HPRT · Deficit completo di ipoxantina guanina fosforibosiltransferasi · Deficit di HPRT, grado IV · Deficit di ipoxantina guanina fosforibosiltransferasi, grado IV |
| nl | Syndroom van Lesch-Nyhan | Complete HPRT-deficiëntie · Complete deficiëntie van hypoxanthine-guanine-fosforibosyltransferase · Deficiëntie van hypoxanthine-guanine-fosforibosyltransferase, graad IV · HPRT-deficiëntie graad IV |
| pt | Síndrome Lesch-Nyhan | Deficiência de hipoxantina guanina fosforribosiltransferase |
| pl | Zespół Lescha i Nyhana | Całkowity Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej · Całkowity Niedobór HPRT · Niedobór fosforybozylotransferazy hipoksantynowo-guaninowej, IV stopnia · Niedobór HPRT IV stopnia |
| cs | Leschův-Nyhanův syndrom | Kompletní deficit HPRT · Kompletní deficit hypoxanthinguaninfosforibosyltransferázy · Deficit HPRT stupně IV · Deficit hypoxanthinguaninfosforibosyltransferázy, stupeň IV · Lesch-Nyhanův syndrom |
| uk | Синдром Леша-Ніхана | Повна недостатність HPRT · Дефіцит HPRT IV ступеня · Повна недостатність гіпоксантин-гуанін-фосфорибозилтрансферази · Дефіцит гіпоксантин-гуанін-фосфорибозилтрансферази, ступінь IV |
| zh | Lesch-Nyhan综合征 | 次黄嘌呤-鸟嘌呤磷酸核糖基转移酶缺乏症4级 |
| tr | Lesch-Nyhan sendromu | HPRT tam eksikliği · HPRT eksikliği derece IV · Hipoksantin guanin fosforibosiltransferaz tam eksikliği · Hipoksantin guanin fosforibosiltransferaz eksikliği, derece IV |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300322 | E | validated | |
| OMIM | 308950 | ND | validated | |
| ICD-10 | E79.1 | E | specific | validated |
| ICD-11 | 5C55.01 | E | specific | validated |
| MONDO | 0010298 | E | validated | |
| MeSH | D007926 | E | validated | |
| UMLS | C0023374 | E | validated | |
| GARD | 7226 | E | validated | |
| MedDRA | 10057589 | 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 |
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Prevalence and incidence
10 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.43 / 100 000 | Italy | Value and class | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.34 / 100 000 | Europe | Value and class | Validated | [EXPERT]_ORPHANET |
| Prevalence at birth | 1-9 / 1 000 000 | 0.42 / 100 000 | Spain | Value and class | Validated | 18067674[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Spain | Class only | Not yet validated | 18067674[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.18 / 100 000 | Canada | Value and class | Validated | 4558815[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Canada | Class only | Not yet validated | 4558815[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Italy | Class only | Validated | 11953730[PMID] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.18 / 100 000 | United Kingdom | Value and class | Not yet validated | 21152085[PMID]_21126241[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.5 / 100 000 | United Kingdom | Value and class | Validated | 21152085[PMID]_21126241[PMID] |
| Point prevalence | 1-9 / 1 000 000 | — | Europe | 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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0000708 | Atypical behavior | |
| HP:0001997 | Gout | |
| HP:0004374 | Hemiplegia/hemiparesis | |
| HP:0002149 | Hyperuricemia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0000790 | Hematuria | |
| HP:0000083 | Renal insufficiency | |
Run the differential on the 8 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/510
- This record as JSON: /data/d/510.json