Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, slowly progressive neurodegenerative disease characterized by delayed psychomotor development beginning in infancy, mild to profound intellectual disability, gait and stance ataxia, pyramidal signs (hyperreflexia, extensor plantar responses), dysarthria, and ocular abnormalities (e.g. nystagmus, oculomotor apraxia, abduction deficits, esotropia, ptosis). Brain imaging reveals progressive, generalized cerebellar atrophy, mild ventriculomegaly and, in some, retrocerebellar cysts.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | |
| fr | Syndrome d'ataxie cérébelleuse autosomique récessive-signes pyramidaux-nystagmus-apraxie oculomotrice | |
| de | Autosomal-rezessive zerebelläre Ataxie-Pyramidenbahnzeichen-Nystagmus-okulomotorische Apraxie-Syndrom | |
| es | Síndrome de ataxia cerebelosa autosómico recesivo-signos piramidales-nistagmo-apraxia oculomotora | |
| it | Sindrome atassia cerebellare autosomica recessiva-segni piramidali-nistagmo-aprassia oculomotoria | |
| nl | Autosomaal recessieve cerebellaire ataxie - piramidale verschijnselen - nystagmus - oculomotorische apraxie-syndroom | |
| pt | Síndrome de ataxia cerebelosa autossómica recessiva-sinais piramidais-nistagmo-apraxia oculomotora | |
| pl | Autosomalny recesywny zespół ataksja móżdżkowa-objawy piramidowe-oczopląs-apraksja okoruchowa | |
| cs | Autozomálně recesivní syndrom zahrnující cerebelární ataxii, pyramidové jevy, nystagmus a okulomotorickou apraxii | |
| uk | Аутосомно-рецесивний синдром мозочкової атаксії-пірамідних ознак- ністагму-окуломоторної апраксії | |
| zh | 常染色体隐性小脑共济失调-锥体征-眼球震颤-动眼神经失用综合征 | |
| tr | Otozomal resesif serebellar ataksi-piramidal bulgular-nistagmus-okülomotor apraksi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614831 | BTNT | validated | |
| OMIM | 616204 | BTNT | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| ICD-11 | 8A03.1Y | NTBT | attributed | validated |
| MONDO | 0018189 | E | validated | |
| UMLS | C4706388 | 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 (3):
- ORPHA:98096Autosomal recessive metabolic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:79166Disorder of amino acid absorption and transport
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| GRID2 | ORPHA:363432Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency | 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] |
| GRM1 | ORPHA:324262Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | 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 | 17 cases | Worldwide | Case(s) | Validated | 22901947[PMID]_24078737[PMID]_23611888[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22901947[PMID]_24078737[PMID]_23611888[PMID] |
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
32 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007256 | Abnormal pyramidal sign | Diagnostic criterion |
| HP:0000639 | Nystagmus | Diagnostic criterion |
| HP:0000657 | Oculomotor apraxia | Diagnostic criterion |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0002136 | Broad-based gait | |
| HP:0100275 | Diffuse cerebellar atrophy | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0000565 | Esotropia | |
| HP:0001288 | Gait disturbance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000666 | Horizontal nystagmus | |
| HP:0000571 | Hypometric saccades | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000543 | Optic disc pallor | |
| HP:0001763 | Pes planus | |
| HP:0007240 | Progressive gait ataxia | |
| HP:0007221 | Progressive truncal ataxia | |
| HP:0000508 | Ptosis | |
| HP:0001583 | Rotary nystagmus | |
| HP:0004322 | Short stature | |
| HP:0002464 | Spastic dysarthria | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0003487 | Babinski sign | |
| HP:0001347 | Hyperreflexia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002828 | Multiple joint contractures | |
| HP:0002465 | Poor speech | |
| HP:0006951 | Retrocerebellar cyst | |
| Excluded (0%) | ||
| HP:0001250 | Seizure | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 24078737[PMID]_23611888[PMID]_22901947[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363429
- This record as JSON: /data/d/363429.json