ORPHA:289266
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation is a rare intellectual disability and epilepsy syndrome characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation | |
| fr | Encéphalopathie épileptique à début précoce et déficience intellectuelle liées à une mutation de GRIN2A | |
| de | Frühinfantile epileptische Enzephalopathie und Intelligenzminderung durch GRIN2A-Genmutation | |
| es | Encefalopatía epiléptica y discapacidad intelectual de inicio precoz por una mutación en el gen GRIN2A | |
| it | Encefalopatia epilettica ad esordio precoce e disabilità intellettiva da mutazione di GRIN2A | |
| nl | Epileptische encefalopathie en intellectuele achterstand met vroege aanvang door GRIN2A-mutatie | |
| pt | Encefalopatia epilética de início precoce e perturbação do desenvolvimento intelectual por mutações em GRIN2A | |
| pl | Encefalopatia padaczkowa o wczesnym początku i niepełnosprawność intelektualna z powodu mutacji GRIN2A | |
| cs | Epileptická encefalopatie a mentální retardace s časným nástupem způsobená GRIN2A mutací | |
| uk | Рання епілептична енцефалопатія та розумова відсталість внаслідок мутації GRIN2A | |
| zh | GRIN2A基因变异所致早发性癫痫性脑病和智力障碍 | |
| tr | GRIN2A mutasyonuna bağlı erken-başlangıçlı epileptik ensefalopati ve zihinsel yetersizlik |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245570 | NTBT | validated | |
| ICD-10 | E72.1 | NTBT | attributed | validated |
| ICD-11 | 8A61.2Y | NTBT | index | validated |
| MONDO | 0017325 | E | validated | |
| UMLS | C4749281 | 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 (2):
- ORPHA:98259Childhood-onset epilepsy syndrome
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.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRIN2A | Disease-causing germline mutation(s) in | Assessed | HGNC:4585 | ENSG00000183454 | 138253 | 16p13.2 | glutamate ionotropic receptor NMDA type subunit 2A | 20890276[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
29 annotations · validated 2019-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000708 | Atypical behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0010844 | EEG with multifocal slow activity | |
| HP:0008947 | Floppy infant | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002421 | Poor head control | |
| HP:0012736 | Profound global developmental delay | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0012547 | Abnormal involuntary eye movements | |
| HP:0012447 | Abnormal myelination | |
| HP:0008936 | Axial hypotonia | |
| HP:0002506 | Diffuse cerebral atrophy | |
| HP:0011097 | Epileptic spasm | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0007359 | Focal-onset seizure | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001276 | Hypertonia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0001265 | Hyporeflexia | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0001336 | Myoclonus | |
| HP:0001761 | Pes cavus | |
| HP:0011451 | Primary microcephaly | |
| HP:0005484 | Secondary microcephaly | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001518 | Small for gestational age | |
| HP:0012171 | Stereotypical hand wringing | |
Annotation source: 24839611[PMID]_24504326[PMID]_20890276[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289266
- This record as JSON: /data/d/289266.json