Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased phytanoyl-CoA hydroxylase activity
Always present (100%)HP:4000163
Abnormality of RPE
Very frequent (80-99%)HP:0007703
Abnormality of vision
Very frequent (80-99%)HP:0000504
Ataxia
Very frequent (80-99%)HP:0001251
Corticospinal signs
Very frequent (80-99%)HP:0007256
Disease of the heart muscle
Very frequent (80-99%)HP:0001638
Dry skin
Very frequent (80-99%)HP:0000958
Eye disease
Very frequent (80-99%)HP:0000478
Foot deformity
Very frequent (80-99%)HP:0001760
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Laboratory abnormality
Very frequent (80-99%)HP:0001939
Lens opacities
Very frequent (80-99%)HP:0000518
Lost smell
Very frequent (80-99%)HP:0000458
Nail dysplasia
Very frequent (80-99%)HP:0002164
Noninflammatory retina disease
Very frequent (80-99%)HP:0000488
Paralysis or weakness of one side of body
Very frequent (80-99%)HP:0004374
Peripheral neuropathy
Very frequent (80-99%)HP:0009830
Sensorineural deafness
Very frequent (80-99%)HP:0000407
Skeletal dysplasia
Very frequent (80-99%)HP:0002652
Anomaly of the epiphyses
Frequent (30-79%)HP:0005930
Difficulties with night vision
Frequent (30-79%)HP:0000662
Eye movement issue
Frequent (30-79%)HP:0000496
Eyelid ptosis
Frequent (30-79%)HP:0000508
Hammertoe
Frequent (30-79%)HP:0001765
Impaired vision
Frequent (30-79%)HP:0000505
Large spleen
Frequent (30-79%)HP:0001744
Mental deterioration in childhood
Frequent (30-79%)HP:0002376
Mental retardation, severe
Frequent (30-79%)HP:0010864
Miosis
Frequent (30-79%)HP:0000616
Muscle degeneration
Frequent (30-79%)HP:0003202
Related Conditions
Ataxia co-occurrent and due to phytanic acid storage disease(child)
Disorder of fatty acid metabolism(parent)
Storage disease(parent)
Hereditary motor and sensory neuropathy(parent)
Leucodystrophy(parent)
Retinitis pigmentosa(parent)
Hereditary degenerative disease of central nervous system(parent)
Inherited metabolic disorder of nervous system(parent)
Quick Facts
- SNOMED CT
- 25362006
- UMLS CUI
- C0034960
- Fully Specified Name
- Phytanic acid storage disease (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.