ORPHA:363432
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Synonyms: Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency · SCAR18
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency · SCAR18 |
| fr | Ataxie cérébelleuse congénitale autosomique récessive par déficit en GRID2 | Ataxie cérébelleuse autosomique récessive par déficit en sous-unité delta-2 du récepteur ionotrophique du glutamate · SCAR18 |
| de | Zerebelläre Ataxie durch GRID2-Mangel, autosomal-rezessive kongenitale | Autosomal-rezessive kongenitale zerebelläre Ataxie durch ionotropen Glutamatrezeptor delta-2-Untereinheiten-Mangel · SCAR18 |
| es | Ataxia cerebelosa congénita autosómica recesiva por deficiencia de GRID2 | Ataxia cerebelosa congénita autosómica recesiva por deficiencia de la subunidad delta 2 del receptor ionotrópico de glutamato · SCAR18 |
| it | Atassia cerebellare congenita autosomica recessiva da deficit di GRID2 | Atassia cerebellare congenita autosomica recessiva da deficit della subunità delta-2 del recettore ionotropico del glutammato · SCAR18 |
| nl | Autosomaal recessieve congenitale cerebellaire ataxie door GRID2-deficiëntie | Autosomaal recessieve congenitale cerebellaire ataxie door deficiëntie van de ionotrope glutamaatreceptor delta-2-subeenheid · SCAR18 |
| pt | Ataxia cerebelosa congénita autossómica recessiva por deficiência de GRID2 | |
| pl | Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru GRID2 | Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru podjednostki delta-2 jonotropowego receptora glutaminianu · SCAR18 |
| cs | Autozomálně recesivní vrozená mozečková ataxie způsobená deficitem GRID2 | SCAR18 · Autozomálně recesivní vrozená mozečková ataxie způsobená deficitem delta-2 podjednotky ionotropního glutamátového receptoru |
| uk | Аутосомно-рецесивна вроджена мозочкова атаксія, зумовлена дефіцитом гена GRID2 | Аутосомно-рецесивна вроджена мозочкова атаксія внаслідок дефіциту дельта-2 субодиниці іонотропного глутаматного рецептора · SCAR18 |
| zh | GRID2基因缺陷所致常染色体隐性先天性小脑共济失调 | = en |
| tr | GRID2 eksikliğine bağlı otozomal resesif doğumsal serebellar ataksi | İyonotropik glutamat reseptörü delta-2 alt birim eksikliğine bağlı otozomal çekinik doğumsal serebellar ataksi · SCAR18 |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616204 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0014530 | E | validated | |
| UMLS | C4015505 | 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:363429Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
rare inborn errors of metabolism; 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 |
|---|---|---|---|---|---|---|---|---|
| GRID2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4576 | ENSG00000152208 | 602368 | 4q22.1-q22.2 | glutamate ionotropic receptor delta type subunit 2 | 23611888[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 23611888[PMID]_24078737[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.
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HPO phenotypes
11 annotations · validated 2018-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002070 | Limb ataxia | |
| HP:0002078 | Truncal ataxia | |
| Frequent (79-30%) | ||
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012444 | Brain atrophy | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0100543 | Cognitive impairment | |
| HP:0004302 | Functional motor deficit | |
| HP:0001288 | Gait disturbance | |
| HP:0000640 | Gaze-evoked nystagmus | |
| HP:0001290 | Generalized hypotonia | |
| HP:0000666 | Horizontal nystagmus | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24078737[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363432
- This record as JSON: /data/d/363432.json