Seizures-intellectual disability due to hydroxylysinuria syndrome
historical
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- historical
A rare inborn error of metabolism characterized by infantile onset of global developmental delay, severe intellectual disability, seizures, and movement disorder (including tremor, hyperkinesia, and myoclonus), associated with excessive excretion of hydroxylysine in urine. There have been no further descriptions in the literature since 1970.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Seizures-intellectual disability due to hydroxylysinuria syndrome | |
| fr | Syndrome de convulsions-déficience intellectuelle par hydroxylysinurie | |
| de | Syndrom der Krampfanfälle mit Intelligenzminderung und Hydroxylysinurie | |
| es | Síndrome de crisis-discapacidad intelectual por hidroxilsinuria | |
| it | Sindrome crisi epilettiche-disabilità intellettiva da idrossilisinuria | |
| nl | Epileptische aanvallen - intellectuele achterstand door hydroxylysinurie-syndroom | |
| pt | Síndrome de convulsões-perturbação do desenvolvimento intelectual por hidroxilisinúria | |
| pl | Ataki padaczkowe - niepełnosprawność intelektualna z powodu hydroksylizynurii | |
| cs | Syndrom zahrnující křeče a mentální postižení způsobený hydroxylysinurií | |
| uk | Синдром судоми-інтелектуальної недостатності внаслідок гідроксилізинурії | |
| zh | 羟赖氨酸尿症所致癫痫-智力障碍综合征 | |
| tr | Hidroksilisinüri sendromuna bağlı zihinsel yetersizlik-nöbetler |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236900 | E | validated | |
| ICD-10 | E72.3 | NTBT | attributed | validated |
| ICD-11 | 5C50.4 | NTBT | index | validated |
| MONDO | 0009373 | E | validated | |
| UMLS | C4510221 | 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 (4):
- ORPHA:289832Disorder of lysine and hydroxylysine metabolism
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 10.1007/978-3-642-55878-8_18[DOI] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10.1007/978-3-642-55878-8_18[DOI] |
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
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003355 | Aminoaciduria | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0001249 | Intellectual disability | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/79156
- This record as JSON: /data/d/79156.json