adult Refsum disease
Findings
No curated finding names adult Refsum disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare, clinically variable, multisystemic metabolic disease, characterized by anosmia, early-onset retinitis pigmentosa and possible neurological manifestations, including neuropathy, and cerebellar ataxia, deafness, ichthyosis, skeletal abnormalities, and cardiac arrhythmia. It is characterized biochemically by accumulation of phytanic acid in plasma and tissues.
Definition from the Mondo Disease Ontology (MONDO:0009958), read 2026-09-29. CC BY 4.0.
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced phytanic acid oxidase activity in cultured fibroblastsHPOHP:4000163
- 20 of 20 reported patients
- Abnormal foot morphologyHPOHP:0001760
- Very frequent (80% to 99% of cases)
- Abnormal pyramidal signHPOHP:0007256
- Very frequent (80% to 99% of cases)
- Abnormal retinal pigmentationHPOHP:0007703
- Very frequent (80% to 99% of cases)
- Abnormality of metabolism/homeostasisHPOHP:0001939
- Very frequent (80% to 99% of cases)
- Abnormality of the eyeHPOHP:0000478
- Very frequent (80% to 99% of cases)
Show the remaining 28
- Hemiplegia/hemiparesisHPOHP:0004374
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Nail dysplasiaHPOHP:0002164
- Very frequent (80% to 99% of cases)
- Peripheral neuropathyHPOHP:0009830
- Very frequent (80% to 99% of cases)
- RetinopathyHPOHP:0000488
- Very frequent (80% to 99% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Very frequent (80% to 99% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PHYHHGNC:8940
- Definitive · Ambry Genetics · Autosomal recessive · 2024
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- PEX7HGNC:8860
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
16 names
Resolves to: adult Refsum disease
- Also called
- adult Refsum disease due to PHYHclassic Refsum diseasehereditary motor and sensory neuropathy 4hereditary motor and sensory neuropathy type 4hereditary sensory and motor neuropathy type 4heredopathia atactica polyneuritiformisHMSN 4HMSN type IVHSMN IVhypertrophic neuropathy of Refsumphytanic acid oxidase deficiencyphytanic-CoA hydroxylase deficiencyRefsum DiseaseRefsum disease, adult, 1Refsum disease, classicRefsum's disease