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Refsum disease
2 OMIM references -
2 associated genes
16 connected diseases
38 signs/symptoms
Disease Type of connection
Rhizomelic chondrodysplasia punctata type 1
Infantile Refsum disease
Neonatal adrenoleukodystrophy
Zellweger syndrome
Mild hemophilia A
Moderately severe hemophilia A
Severe hemophilia A
Symptomatic form of hemophilia A in female carriers
Ketoacidosis due to beta-ketothiolase deficiency
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Synonym(s):
- HMSN 4
- Hereditary motor and sensory neuropathy type 4
- Heredopathia atactica polyneuritiformis
- Phytanic acid oxidase deficiency
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
- Rare skin disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
2 OMIM references -
1 MeSH reference: D012035
Gene symbol UniProt reference OMIM reference
PEX7 O00628601757
PHYH O14832602026
Very frequent
- Anomalies of ear and hearing
- Anomalies of eyes and vision
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Ataxia / incoordination / trouble of the equilibrium
- Cardiomyopathy / hypertrophic / dilated
- Cataract / lens opacification
- Dry / squaly skin / exfoliation
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Foot anomalies
- Hemiplegia / diplegia / hemiparesia / limb palsy
- Ichthyosis / ichthyosiform dermatitis
- Metabolic anomalies
- Peripheral neuropathy
- Pyramidal syndrome
- Retinitis pigmentosa / retinal pigmentary changes
- Retinopathy
- Sensorineural deafness / hearing loss
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia

Frequent
- Abnormal eye movements / oculomotor disorder
- Claw toes / retracted toes
- Epiphyseal anomaly
- Hypotonia
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Psychic / psychomotor regression / dementia / intellectual decline
- Ptosis
- Pupillary anomalies / mydriasis / myosis / tonic pupil
- Splenomegaly
- Storage liver disease

Occasional
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Autosomal recessive inheritance
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Nystagmus
- Pes cavus
- Renal failure
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Visual loss / blindness / amblyopia