U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Peroxisome biogenesis disorder 9B

Peroxisome biogenesis disorder 9B

Synonyms
PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL; Refsum disease, adult, 2

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
view full author information

Available tests

83 tests are in the database for this condition.

Clinical tests (83 available)

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

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.