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Phytanic acid storage disease

Synonyms
Disorder of cornification 11 (phytanic acid type); Doc 11 (phytanic acid type); HMSN 4; HMSN IV; Herditary sensory and motor neuropathy type 4; Heredopathia atactica polyneuritiformis; Hypertrophic neuropathy of Refsum; PEX7-Related Refsum Disease; PHYH-Related Refsum Disease; Phytanic acid oxidase deficiency; REFSUM DISEASE, CLASSIC; Refsum Disease
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Adult Refsum Disease
Adult Refsum disease (ARD is associated with elevated plasma phytanic acid levels, late childhood-onset (or later) retinitis pigmentosa, and variable combinations of anosmia, polyneuropathy, deafness, ataxia, and ichthyosis. Onset of symptoms ranges from age seven months to older than age 50 years. Cardiac arrhythmia and heart failure caused by cardiomyopathy are potentially severe health problems that develop later in life.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Hans R Waterham
Ronald JA Wanders
Bart P Leroy
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Available tests

95 tests are in the database for this condition.

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Clinical tests (95 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: PBD9B, PTS2R, RCDP1, RD, PEX7
    Summary: peroxisomal biogenesis factor 7

  • Also known as: LN1, LNAP1, PAHX, PHYH1, RD, PHYH
    Summary: phytanoyl-CoA 2-hydroxylase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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