Refsum Disease, Classic (RD)

Refsum Disease, Classic(来自ICD-11)

别称:

Refsum Disease

Heredopathia Atactica Polyneuritiformis

Classic Refsum Disease

Adult Refsum Disease

Hmsn Iv

Phytanic Acid Oxidase Deficiency

Hereditary Motor and Sensory Neuropathy Type Iv

Phytanic Acid Storage Disease

Refsum Disease, Adult, 1

Refsum's Disease

Hereditary Motor and Sensory Neuropathy Type 4

Hereditary Motor and Sensory Neuropathy Iv

Phytanic-Coa Hydroxylase Deficiency

Refsum Syndrome

Hmsn Type Iv

Hmsn 4

Hmsn4

Refsum Disease, Adult

Hsmn Iv

Crd

Ard

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Refsum Disease, Classic, also known as refsum disease, is related to peroxisome biogenesis disorder 2b and zellweger spectrum disorder. An important gene associated with Refsum Disease, Classic is PHYH (Phytanoyl-CoA 2-Hydroxylase), and among its related pathways/superpathways are Metabolism and Fatty acid metabolism. The drugs Cholic Acids and Gastrointestinal Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and skin, and related phenotypes are abnormal pyramidal sign and ataxia

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