GNAO1-related developmental delay-seizures-movement disorder spectrum
Synonyms: GNAO1-related neurodevelopmental disorder · GNAO1-related spectrum
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
A rare genetic neurological disorder characterized by a phenotypic spectrum of mild to severe developmental delay and hypotonia, variably associated with intellectual disability, early-onset seizures, and movement disorders, such as dystonia, ataxia, chorea, and dyskinesia. Brain imaging may show delayed myelination, thin corpus callosum, or cerebral atrophy.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | GNAO1-related developmental delay-seizures-movement disorder spectrum | GNAO1-related neurodevelopmental disorder · GNAO1-related spectrum |
| fr | Spectre de retard de développement-épilepsies-anomalies du mouvement lié à GNAO1 | Spectre lié à GNAO1 |
| de | GNAO1-assoziierte Entwicklungsverzögerung-Krampfanfälle-Bewegungsstörungsspektrum | GNAO1-abhängiges Spektrum |
| es | Espectro de trastornos del movimiento-crisis-retraso del desarrollo asociado al gen GNAO1 | Espectro asociado al gen GNAO1 |
| it | Ritardo dello sviluppo, convulsioni, disturbi del movimento correlati a GNAO1 | Spettro correlato a GNAO1 |
| nl | GNAO1-gerelateerd ontwikkelingsachterstand - insulten - bewegingsstoornis-spectrum | GNAO1-gerelateerd spectrum |
| pt | Espectro clínico de perturbação do desenvolvimento-convulsões-doença do movimento GNAO1-relacionado | Espectro clínico GNAO1-relacionado |
| pl | Spektrum zaburzeń związanych z GNAO1 obejmujących opóźnienie rozwoju, drgawki i ruchy mimowolne | Spektrum zaburzeń związanych z GNAO1 |
| cs | Spektrum související s GNAO1 zahrnující vývojové opoždění, záchvaty a poruchu pohybu | = en |
| uk | GNAO1-повязаний спектр затримки розвитку-судом-рухових розладів | Повязаний з GNAO1 розлад нейророзвитку · Спектр, повязаний з GNAO1 |
| zh | GNAO1-related developmental delay-seizures-movement disorder spectrum | GNAO1-related spectrum |
| tr | GNAO1-related developmental delay-seizures-movement disorder spectrum | GNAO1-related spectrum |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617493 | BTNT | validated | |
| ICD-10 | G93.4 | NTBT | attributed | validated |
| MONDO | 0035660 | E | validated | |
| UMLS | C5680303 | 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 (5):
- ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological diseases - ORPHA:496916Rare genetic hyperkinetic movement disorder
rare genetic diseases - ORPHA:494457Rare hyperkinetic movement disorder
rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GNAO1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4389 | ENSG00000087258 | 139311 | 16q13 | G protein subunit alpha o1 | 29758257[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 75 cases | Worldwide | Case(s) | Validated | 26060304[PMID]_29758257[PMID]_30682224[PMID]_34122306[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/592564
- This record as JSON: /data/d/592564.json