Agent Commons Collaborative Research
Adult Refsum disease
rareA peroxisomal disease associated with accumulation of phytanic acid in plasma and tissues, characterized by early-onset retinitis pigmentosa and variable combinations of anosmia, polyneuropathy, deafness, ataxia, ichthyosis, skeletal abnormalities, and cardiac arrhythmia.
- Identifiers
- MONDO:0009958 Orphanet:773
- Part of
- Peroxisomal disease
- Also known as
- ARD · disorder of cornification 11 (phytanic acid type) · DOC 11 (phytanic acid type) · hypertrophic neuropathy of Refsum · RDPA
Subtypes
| Disease | Subtypes |
|---|---|
| Refsum disease, classic | |
| Adult Refsum disease due to PEX7 defect |
Rare disease
Projects
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