ORPHA:504476
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Synonyms: CABV syndrome · CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Elderly
- Status
- active
A rare slowly progressive autosomal recessive syndromic cerebellar ataxia characterized by late-onset cerebellar dysfunction (including gait and limb ataxia, nystagmus, and dysarthria), bilateral vestibulopathy (abnormal vestibulo-ocular reflex), and axonal sensory neuropathy. Variable features may include chronic cough and autonomic dysfunction. Brain imaging usually shows cerebellar atrophy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome | CABV syndrome · CANVAS · Cerebellar ataxia with bilateral vestibulopathy syndrome |
| fr | Syndrome d'ataxie cérébelleuse avec neuropathie et aréflexie vestibulaire bilatérale | CANVAS · Syndrome d'ataxie cérébelleuse avec vestibulopathie bilatérale |
| de | Zerebelläre Ataxie-Neuropathie-bilaterale vestibuläre Areflexie-Syndrom | CABV-Syndrom · CANVAS · Zerebelläre Ataxie und bilaterale Vestibulopathie-Syndrom |
| es | Síndrome de ataxia cerebelosa con neuropatía y arreflexia vestibular bilateral | CANVAS · Síndrome CABV · Síndrome de ataxia cerebelosa con vestibulopatía bilateral |
| it | Sindrome atassia cerebellare con neuropatia e areflessia vestibolare bilaterale | |
| nl | Cerebellaire ataxie - neuropathie - bilaterale vestibulaire areflexie-syndroom | CABV-syndroom · CANVAS · Cerebellaire ataxie met bilaterale vestibulopathie-syndroom |
| pt | Síndrome de ataxia cerebelosa com neuropatia e arreflexia vestibular bilateral | |
| pl | Zespół obustronnej arefleksji narządu przedsionkowego i ataksji móżdżkowej z neuropatią | = en |
| cs | Syndrom zahrnující mozečkovou ataxii s neuropatií a bilaterální vestibulární areflexií | CANVAS · Syndrom CABV · Syndrom mozečkové ataxie s bilaterální vestibulopatií |
| uk | Мозочкова атаксія з нейропатією та синдромом двосторонньої вестибулярної арефлексії | CABV-синдром · CANVAS · Мозочкова атаксія з синдромом двосторонньої вестибулопатії |
| zh | 小脑共济失调伴神经病变和双侧前庭反射综合征 | 小脑共济失调和双侧前庭病综合征 |
| tr | Nöropati ve bilateral vestibüler arefleksi sendromu ile seyreden serebellar ataksi | CANVAS · CABV sendromu · Bilateral vestibülopati sendromu ile seyreden serebellar ataksi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614575 | E | validated | |
| ICD-10 | G11.2 | NTBT | attributed | validated |
| MONDO | 0044720 | E | validated | |
| MeSH | C000726747 | E | validated | |
| UMLS | C3281223 | E | validated | |
| MedDRA | 10078216 | 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 (3):
- ORPHA:98099Autosomal recessive syndromic cerebellar ataxia
rare genetic diseases; rare neurological diseases - ORPHA:207028Cerebellar ataxia with peripheral neuropathy
rare genetic diseases; rare neurological diseases - ORPHA:98036Rare otorhinolaryngologic disease
rare otorhinolaryngological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RFC1 | Disease-causing germline mutation(s) in | Assessed | HGNC:9969 | ENSG00000035928 | 102579 | 4p14 | replication factor C subunit 1 | 30926972[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25564090[PMID]_30926972[PMID] |
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 25564090[PMID]_30926972[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.
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HPO phenotypes
16 annotations · validated 2018-11-26| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001284 | Areflexia | |
| HP:0003487 | Babinski sign | |
| HP:0000750 | Delayed speech and language development | |
| HP:0007108 | Demyelinating peripheral neuropathy | |
| HP:0002460 | Distal muscle weakness | |
| HP:0001260 | Dysarthria | |
| HP:0002075 | Dysdiadochokinesis | |
| HP:0001310 | Dysmetria | |
| HP:0002066 | Gait ataxia | |
| HP:0002080 | Intention tremor | |
| HP:0002828 | Multiple joint contractures | |
| HP:0000648 | Optic atrophy | |
| HP:0002073 | Progressive cerebellar ataxia | Diagnostic criterion |
| HP:0007141 | Sensorimotor neuropathy | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0008568 | Vestibular areflexia | Diagnostic criterion |
Annotation source: 26669662[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/504476
- This record as JSON: /data/d/504476.json