GenTIGSA Gene Database on Rare Genetic Disorders
Phytanic Acid Storage Disease  
Disease Aliases (28)

Adult refsum disease

Adult refsum disease due to phyh

Classic refsum disease

Hereditary motor and sensory neuropathy 4

Hereditary motor and sensory neuropathy type 4

Hereditary motor and sensory neuropathy type iv

Hereditary motor and sensory neuropathy, type iv

Hereditary sensory and motor neuropathy type 4

Hereditary sensory-motor neuropathy, type iv

Heredoataxia hemeralopica polyneuritiformis

Heredoataxic atactica polyneuritiformis

Heredoataxic hemeralopica polyneuritiformis

Heredopathia atactica polyneuritiformis

Hmsn 4

Hmsn iv

Hmsn type iv

Hsmn iv

Hypertrophic neuropathy of refsum

Pex7-related refsum disease

Phyh-related refsum disease

Phytanic acid oxidase deficiency

Phytanic-coa hydroxylase deficiency

Refsum disease

Refsum disease, adult, 1

Refsum disease, classic

Refsum syndrome

Refsum's disease

Refsum-thiebaut disease

Associated Genes (1)