Refsum disease: General Information

Names and Terminology for Refsum disease

Synonym(s): Phytanic Acid Storage Disease, Heredopathia Atactica Polyneuritiformis

Source: NINDS (NIH)1

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Back to: « Refsum disease

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Other Names for This Condition

Source: GHR (NLM/NIH)2

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Related Diseases

The following diseases are related to Refsum disease. If you have a question about any of these diseases, you can contact GARD.

Source: GARD (NIH)3

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Other Names: Disorder of cornification 11 (phytanic acid type); Hereditary sensory and motor neuropathy type 4; HMSN 4; Disorder of cornification 11 (phytanic acid type); Hereditary sensory and motor neuropathy type 4; HMSN 4; Heredopathia atactica polyneuritiformis; Doc 11 (phytanic acid type); Hypertrophic neuropathy of Refsum; Phytanic acid oxidase deficiency

Source: GARD (NIH)4

Synonyms and Related Terms

Synonyms of Refsum disease:

5

Categories for Refsum disease

Categories: Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Congenital and Genetic Diseases; Eye diseases; Metabolic disorders; Nervous System Diseases; Skin Diseases

Source: GARD (NIH)6

Categories

Category of Refsum disease:

7

Categories

Category of Refsum disease:

8

Categories

Category of Refsum Disease:

9

Categories

Categories for Refsum disease may include:10 Category of Refsum Disease:

Prevalence of Refsum disease

Frequency

The prevalence of Refsum disease is unknown, although the condition is thought to be uncommon.

Source: GHR (NLM/NIH)11

Onset Age of Refsum disease

The disease usually begins in late childhood or early adulthood.

Although the disease usually appears in early childhood, some people will not develop symptoms until their 40s or 50s.

Source: NINDS (NIH)12

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References

  1. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum/ refsum.htm
  2. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ refsum-disease
  3. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5691/ refsum-disease
  4. ibid.
  5. Source: Disease Ontology
  6. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 5691/ refsum-disease
  7. Source: Disease Ontology
  8. Source: Monarch Initiative
  9. Source: NCI Thesaurus
  10. Source: MeSH (U.S. National Library of Medicine)
  11. Source: GHR (NLM/NIH): ghr.nlm.nih.gov/ condition/ refsum-disease
  12. Source: NINDS (NIH): ninds.nih.gov/ disorders/ refsum/ refsum.htm

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