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Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
1 OMIM reference -
1 associated gene
32 connected diseases
No signs/symptoms info
Disease Type of connection
Alternating hemiplegia of childhood
Rapid-onset dystonia-parkinsonism
Spinocerebellar ataxia type 1
Autosomal dominant Charcot-Marie-Tooth disease type 2F
CLN5 disease
Cervical spina bifida aperta
Cervical spina bifida cystica
Cervicothoracic spina bifida aperta
Cervicothoracic spina bifida cystica
Dentatorubral pallidoluysian atrophy
Distal hereditary motor neuropathy type 2
Epilepsy with myoclonic-astatic seizures
Ewing sarcoma
Extraskeletal Ewing sarcoma
Familial or sporadic hemiplegic migraine
Isolated delta-storage pool disease
Leber congenital amaurosis
Lennox-Gastaut syndrome
Lumbosacral spina bifida aperta
Lumbosacral spina bifida cystica
Paris-Trousseau thrombocytopenia
Peripheral primitive neuroectodermal tumor
Retinitis pigmentosa
Severe early-childhood-onset retinal dystrophy
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
Thoracolumbosacral spina bifida aperta
Thoracolumbosacral spina bifida cystica
Total spina bifida aperta
Total spina bifida cystica
Upper thoracic spina bifida aperta
Upper thoracic spina bifida cystica
Dehydratase deficiency
Synonym(s):
- CAPOS syndrome
Classification (Orphanet):
(no data available)
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ATP1A3 P13637182350
No signs/symptoms info available.