ORPHA:1171
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Synonyms: CAPOS syndrome · Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, Mitochondrial inheritance
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome | CAPOS syndrome · Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome |
| fr | Syndrome d'ataxie cérébelleuse-aréflexie-pieds creux-atrophie optique-surdité neurosensorielle | Syndrome CAPOS |
| de | Zerebelläre Ataxie-Areflexie-Pes cavus-Optikusatrophie-sensorineurale Schwerhörigkeit-Syndrom | CAPOS-Syndrom |
| es | Síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-hipoacusia neurosensorial | Síndrome CAPOS · Síndrome de ataxia cerebelosa-arreflexia-pies cavos-atrofia óptica-sordera neurosensorial |
| it | Atassia cerebellare - areflessia - piede cavo - atrofia ottica - sordità neurosensoriale | |
| nl | Cerebellaire ataxie - areflexie - pes cavus - opticusatrofie - sensorineuraal gehoorverlies-syndroom | CAPOS-syndroom · Cerebellaire ataxie - areflexie - pes cavus - opticusatrofie - sensorineurale doofheid-syndroom |
| pt | Síndrome de ataxia cerebelosa-arreflexia-pés cavus-atrofia óptica-perda auditiva neurossensorial | |
| pl | Ataksja móżdżkowa - arefleksja - stopa wydrążona - atrofia nerwu wzrokowego - czuciowo-nerwowa utrata słuchu | Zespół CAPOS |
| cs | Syndrom zahrnující cerebelární ataxii, areflexii, pes cavus, optickou atrofii a senzorineurální ztrátu sluchu | CAPOS syndrom |
| uk | Мозочкова атаксія-арефлексія-pes cavus-атрофія зорового нерва-сенсоневральна втрата слуху | Синдром CAPOS · Синдром мозочкової атаксії-рефлексії-pes cavus-атрофії зорового нерва-сенсоневральної глухоти |
| zh | 小脑共济失调-反射消失-弓形足-视神经萎缩-感音神经性耳聋综合征 | CAPOS综合征 |
| tr | Serebellar ataksi-arefleksi-pes kavus-optik atrofi-sensörinöral işitme kaybı sendromu | Serebellar ataksi-arefleksi-pes kavus-optik atrofi-sensörinöral sağırlık sendromu · CAPOS sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601338 | E | validated | |
| ICD-10 | G11.1 | NTBT | attributed | validated |
| MONDO | 0011038 | E | validated | |
| MeSH | C535351 | E | validated | |
| UMLS | C1832466 | E | validated | |
| GARD | 1188 | 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:94145Autosomal dominant cerebellar ataxia type I
rare genetic diseases; rare neurological diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ATP1A3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:801 | ENSG00000105409 | 182350 | 19q13.2 | ATPase Na+/K+ transporting subunit alpha 3 | 24468074[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 24468074[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24468074[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
13 annotations · validated 2017-11-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0001298 | Encephalopathy | |
| HP:0001324 | Muscle weakness | |
| HP:0000648 | Optic atrophy | |
| HP:0000407 | Sensorineural hearing impairment | |
| Occasional (29-5%) | ||
| HP:0000496 | Abnormality of eye movement | |
| HP:0000729 | Autistic behavior | |
| HP:0100543 | Cognitive impairment | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0001761 | Pes cavus | |
| HP:0001250 | Seizure | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 20301294[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1171
- This record as JSON: /data/d/1171.json