Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Synonyms: Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency · Autosomal recessive spinocerebellar ataxia type 13 · SCAR13
- 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 MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency · Autosomal recessive spinocerebellar ataxia type 13 · SCAR13 |
| fr | Ataxie cérébelleuse congénitale autosomique récessive par déficit en MGLUR1 | Ataxie cérébelleuse congénitale autosomique récessive par déficit en récepteur métabotrophique 1 du glutamate · Ataxie spinocérébelleuse autosomique récessive type 13 · SCAR13 |
| de | Autosomal-rezessive kongenitale zerebelläre Ataxie durch MGLUR1-Mangel | Ataxie, spinozerebelläre, autosomal-rezessive, Typ 13 · Autosomal-rezessive kongenitale zerebelläre Ataxie durch metabotropen Glutamatrezeptor 1-Mangel · SCAR13 |
| es | Ataxia cerebelosa congénita por deficiencia de MGLUR1 autosómica recesiva | Ataxia cerebelosa congénita autosómica recesiva por deficiencia del receptor metabotrópico de glutamato 1 · Ataxia espinocerebelosa autosómica recesiva tipo 13 · SCAR13 |
| it | Atassia cerebellare congenita autosomica recessiva da deficit di MGLUR1 | Atassia cerebellare congenita autosomica recessiva da deficit del recettore metabotropico del glutammato 1 · Atassia spinocerebellare autosomica recessiva, tipo 13 · SCAR13 |
| nl | Autosomaal recessieve congenitale cerebellaire ataxie door MGLUR1-deficiëntie | Autosomaal recessieve congenitale cerebellaire ataxie door metabotropische glutamaatreceptor 1-deficiëntie · Autosomaal recessieve spinocerebellaire ataxie type 13 · SCAR13 |
| pt | Ataxia cerebelosa congénita autossómica recessiva por défice de MGLUR1 | |
| pl | Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru MGLUR1 | Autosomalna recesywna ataksja móżdżkowo-rdzeniowa typu 13 · Autosomalna recesywna wrodzona ataksja móżdżkowa z powodu niedoboru receptora 1 metabotropowego glutaminianu · SCAR13 |
| cs | Autozomálně recesivní vrozená cerebelární ataxie způsobená MGLUR1 deficitem | SCAR13 · Autozomálně recesivní vrozená cerebelární ataxie způsobená deficitem metabotropického glutamát receptoru 1 · Autozomálně recesivní spinocerebelární ataxie, typ 13 |
| uk | Аутосомно-рецесивна вроджена мозочкова атаксія, зумовлена дефіцитом MGLUR1 | Аутосомно-рецесивна вроджена мозочкова атаксія внаслідок дефіциту метаботропного глутаматного рецептора 1 · Аутосомно-рецесивна спіноцеребеллярна атаксія, тип 13 · SCAR13 |
| zh | MGLUR1基因缺陷所致常染色体隐性遗传先天性小脑共济失调 | 常染色体隐性遗传脑桥小脑共济失调13型 |
| tr | MGLUR1 eksikliğine bağlı otozomal resesif doğumsal serebellar ataksi | Metabotropik glutamat reseptör 1 eksikliğine bağlı otozomal çekinik doğumsal serebellar ataksi · SCAR13 · Otozomal çekinik spinoserebellar ataksi tip 13 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614831 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.Y | NTBT | attributed | validated |
| MONDO | 0013905 | E | validated | |
| UMLS | C3553816 | 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: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.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GRM1 | Disease-causing germline mutation(s) in | Assessed | HGNC:4593 | ENSG00000152822 | 604473 | 6q24.3 | glutamate metabotropic receptor 1 | 22901947[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 22901947[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
17 annotations · validated 2018-03-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003698 | Difficulty standing | |
| HP:0002066 | Gait ataxia | |
| HP:0001347 | Hyperreflexia | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0011347 | Abnormality of ocular abduction | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0000565 | Esotropia | |
| HP:0004302 | Functional motor deficit | |
| HP:0000571 | Hypometric saccades | |
| HP:0002406 | Limb dysmetria | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0007979 | Gaze-evoked horizontal nystagmus | |
| HP:0001271 | Polyneuropathy | |
| HP:0000508 | Ptosis | |
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 22901947[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324262
- This record as JSON: /data/d/324262.json