ORPHA:2382
Lennox-Gastaut syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Multigenic/multifactorial, Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, severe early-onset developmental epileptic encephalopathy characterized by the triad of intellectual impairment, multiple seizure types, and typical electroencephalography (EEG) abnormalities.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lennox-Gastaut syndrome | |
| fr | Syndrome de Lennox-Gastaut | |
| de | Lennox-Gastaut-Syndrom | Lennox-Enzephalopathie |
| es | Síndrome de Lennox-Gastaut | |
| it | Sindrome di Lennox-Gastaut | |
| nl | Syndroom van Lennox-Gastaut | |
| pt | Síndrome Lennox-Gastaut | |
| pl | Zespół Lennoxa i Gastauta | |
| cs | Lennoxův-Gastautův syndrom | Lennox-Gastautův syndrom |
| uk | Синдром Леннокса-Гасто | |
| zh | Lennox-Gastaut综合征 | |
| tr | Lennox-Gastaut sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615369 | BTNT | validated | |
| OMIM | 616346 | BTNT | validated | |
| OMIM | 617113 | BTNT | validated | |
| OMIM | 618141 | BTNT | validated | |
| ICD-10 | G40.4 | NTBT | inclusion | validated |
| ICD-11 | 8A62.1 | E | specific | validated |
| MONDO | 0016532 | E | validated | |
| MeSH | D065768 | E | validated | |
| UMLS | C0238111 | E | validated | |
| GARD | 9912 | E | validated | |
| MedDRA | 10048816 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:98259Childhood-onset epilepsy syndrome
rare genetic diseases; rare neurological diseases - ORPHA:98749Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
rare genetic diseases - ORPHA:98744Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
4
Genes
8 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MAPK10 | Candidate gene tested in | Not yet assessed | HGNC:6872 | ENSG00000109339 | 602897 | 4q21.3 | mitogen-activated protein kinase 10 | 16249883[PMID] |
| CACNA1A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 31468518[PMID] |
| CACNA1A | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1388 | ENSG00000141837 | 601011 | 19p13.13 | calcium voltage-gated channel subunit alpha1 A | 31468518[PMID] |
| CHD2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1917 | ENSG00000173575 | 602119 | 15q26.1 | chromodomain helicase DNA binding protein 2 | 23708187[PMID] |
| CUX2 | Disease-causing germline mutation(s) in | Assessed | HGNC:19347 | ENSG00000111249 | 610648 | 12q24.11-q24.12 | cut like homeobox 2 | 29630738[PMID] |
| DNM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2972 | ENSG00000106976 | 602377 | 9q34.11 | dynamin 1 | 25262651[PMID]_25533962[PMID] |
| GABRB3 | Disease-causing germline mutation(s) in | Assessed | HGNC:4083 | ENSG00000166206 | 137192 | 15q12 | gamma-aminobutyric acid type A receptor subunit beta3 | 23934111[PMID]_27476654[PMID] |
| SCN1A | Disease-causing germline mutation(s) in | Assessed | HGNC:10585 | ENSG00000144285 | 182389 | 2q24.3 | sodium voltage-gated channel alpha subunit 1 | 17347258[PMID]_20301494[PMID]_19782004[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | 1-5 / 10 000 | 15 / 100 000 | Europe | Value and class | Validated | [EXPERT]_European Medicines Agency 2004[OTHER] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
25 annotations · validated 2023-09-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011195 | EEG with focal sharp slow waves | |
| HP:0001298 | Encephalopathy | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0000718 | Aggressive behavior | |
| HP:0010819 | Atonic seizure | |
| HP:0007270 | Atypical absence seizure | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0002353 | EEG abnormality | Diagnostic criterion |
| HP:0002527 | Falls | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0000752 | Hyperactivity | |
| HP:0000737 | Irritability | |
| HP:0001268 | Mental deterioration | Diagnostic criterion |
| HP:0001336 | Myoclonus | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0012075 | Personality disorder | |
| Occasional (29-5%) | ||
| HP:0000741 | Apathy | |
| HP:0002376 | Developmental regression | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002123 | Generalized myoclonic seizure | |
| HP:0000709 | Psychosis | |
| HP:0002321 | Vertigo | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 30422560[PMID]_25284032[PMID]_26093133[PMID]_26166587[PMID]_26513494[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2382
- This record as JSON: /data/d/2382.json