Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

Preferred Label : Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss;

Symbol : CAPOS;

CISMeF acronym : CAPOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Capos syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na /K transporting, alpha-3 polypeptide (ATP1A3, 182350.0014);

Prefixed ID : #601338;

Détails

Origin ID

601338;

UMLS CUI

C1832466;

Automatic exact mappings (from CISMeF team)
- ATP1A3 wt Allele [NCIt concept]
- VOCA Regimen [NCIt concept]
CISMeF manual mappings
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- CAPOS syndrome [MeSH concept]
- CAPOS syndrome [MeSH Supplementary Concept]
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]
Genes related to phenotype
- Atpase, na+/k+ transporting, alpha-3 polypeptide [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Arm dystonia [HPO term]
- Ataxia [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Blindness [HPO term]
- Bradykinesia [HPO term]
- Childhood onset [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Episodic ataxia [HPO term]
- Episodic generalized hypotonia [HPO term]
- Gait ataxia [HPO term]
- Hearing impairment [HPO term]
- Hemiparesis [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Infantile onset [HPO term]
- Juvenile onset [HPO term]
- Muscle weakness [HPO term]
- Nystagmus [HPO term]
- Optic atrophy [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Pes cavus [HPO term]
- Postural instability [HPO term]
- Progressive scapuloperoneal atrophy [HPO term]
- Progressive sensorineural hearing impairment [HPO term]
- Progressive visual loss [HPO term]
- Reduced consciousness/confusion [HPO term]
- Relapsing, early onset cerebellar ataxia [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Truncal ataxia [HPO term]
- Undetectable visual evoked potentials [HPO term]
- Urinary urgency [HPO term]
- Visual impairment [HPO term]
- Visual loss [HPO term]
- Wolff-Parkinson-White syndrome [HPO term]
ORDO concept(s)
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant optic atrophy plus syndrome [ORDO Disease]
- CAPOS syndrome [MeSH Supplementary Concept]
- CAPOS syndrome [MeSH concept]
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss syndrome (disorder) [SNOMED CT concept]
- Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome [ORDO Disease]

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