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Disease

Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Also known as CAPOS syndrome, CAPOS, cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss+1 more

CAPOS syndrome, CAPOS, cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss.

1
Associated genes
1
Related proteins

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Associated genes

1 match

Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.

ATP1A30.76

Disease biology

1 match

Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.

Sodium/potassium-transporting ATPase subunit alpha-3via ATP1A30.76

Reference

Authoritative identity, definition & identifiers.

Synonyms

CAPOS syndrome, CAPOS, cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss, cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss

References & data sources
  • Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
  • Related entities are derived from literature co-mention (studied together) — associative, not causal.