X-linked spasticity-intellectual disability-epilepsy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare ARX-related epileptic encephalopathy characterized by infantile onset of myoclonic epilepsy with generalized spasticity, severe global developmental delay, and moderate to profound intellectual disability. Obligate female carriers show subtle, generalized hyperreflexia. Late onset progressive spastic ataxia has also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | X-linked spasticity-intellectual disability-epilepsy syndrome | |
| fr | Syndrome de spasticité-déficience intellectuelle-épilepsie lié à l'X | |
| de | X-chromosomale Spastik-Intelligenzminderung-Epilepsie-Syndrom | |
| es | Síndrome de espasticidad-discapacidad intelectual-epilepsia ligado al cromosoma X | |
| it | Sindrome spasticità-disabilità intellettiva-epilessia legata all'X | |
| nl | X-gebonden spasticiteit - intellectuele achterstand - epilepsie-syndroom | |
| pt | Síndrome de espasticidade-perturbação do desenvolvimento intelectual-epilepsia ligada ao X | |
| pl | Spatyczność - niepełnosprawność intelektualna- padaczka sprzężona z chromosomem X | |
| cs | Syndrom zahrnující spasticitu, mentální retardaci a X-vázanou epilepsii | |
| uk | Х-зчеплений синдром спастичності-інтелектуальної недостатності-епілепсії | |
| zh | X连锁肌痉挛-智力障碍-癫痫综合征 | |
| tr | X'e bağlı spastisite-zihinsel yetersizlik-epilepsi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 308350 | NTBT | validated | |
| ICD-10 | G25.3 | NTBT | attributed | validated |
| MONDO | 0017856 | E | validated | |
| UMLS | C4510949 | 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:182079ARX-related epileptic encephalopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARX | Disease-causing germline mutation(s) in | Assessed | HGNC:18060 | ENSG00000004848 | 300382 | Xp21.3 | aristaless related homeobox | 12177367[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 12177367[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_12177367[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
7 annotations · validated 2017-08-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002301 | Hemiplegia | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0003552 | Muscle stiffness | |
| HP:0002063 | Rigidity | |
| HP:0001257 | Spasticity | |
| HP:0002133 | Status epilepticus | |
Run the differential on the 7 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3175
- This record as JSON: /data/d/3175.json