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Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome

disorder
SNOMED 722293005CUI C4302668

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal REM sleep
Always present (100%)HP:0002494
Excessive daytime somnolence
Always present (100%)HP:0001262
Cataplexy
Very frequent (80-99%)HP:0002524
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Abnormality of mitochondrial metabolism
Frequent (30-79%)HP:0003287
Hallucinations while falling asleep
Frequent (30-79%)HP:0002519
NIDDM
Frequent (30-79%)HP:0005978
Optic atrophy
Frequent (30-79%)HP:0000648
Progressive dementia
Frequent (30-79%)HP:0000726
Psychosis
Frequent (30-79%)HP:0000709
Abnormal cerebrospinal fluid morphology
Occasional (5-29%)HP:0002921
Ataxia
Occasional (5-29%)HP:0001251
Atrophic cerebellum
Occasional (5-29%)HP:0001272
Brainstem atrophy
Occasional (5-29%)HP:0007366
Cerebral atrophy
Occasional (5-29%)HP:0002059
Cortical white matter abnormalities seen on MRI
Occasional (5-29%)HP:0002500
Depression
Occasional (5-29%)HP:0000716
Dilated third ventricle
Occasional (5-29%)HP:0007082
Extensor plantar responses
Occasional (5-29%)HP:0003487
Head tremor
Occasional (5-29%)HP:0002346
Intellectual deterioration
Occasional (5-29%)HP:0001268
Involuntary, rapid, rhythmic eye movements
Occasional (5-29%)HP:0000639
Lens opacities
Occasional (5-29%)HP:0000518
Memory impairment
Occasional (5-29%)HP:0002354
Neuronal loss in CNS
Occasional (5-29%)HP:0002529
Neuropathy
Occasional (5-29%)HP:0009830
Predominantly lower limb lymphedema
Occasional (5-29%)HP:0003550
Pseudobulbar symptoms
Occasional (5-29%)HP:0002200
Sensory neuropathy
Occasional (5-29%)HP:0000763
Sleep paralysis
Occasional (5-29%)HP:0025233

Related Conditions

Autosomal dominant hereditary disorder(parent)
Hereditary cerebellar degeneration(parent)
Narcolepsy(parent)
Sensorineural hearing loss(parent)
Cerebellar ataxia(parent)
Hereditary ataxia(parent)
Hereditary hearing loss(parent)

Quick Facts

SNOMED CT
722293005
UMLS CUI
C4302668
Fully Specified Name
Autosomal dominant cerebellar ataxia, deafness and narcolepsy syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.