Sarah Leigh Added comment: Comment on phenotypes: Essential pentosuria (Disorders of pentose metabolism) is a benign inborn error of metabolism, in which 1 to 4 gm of the pentose L-xylulose is excreted in the urine each day, as a result some patients maybe treated inappropriately for diabetes mellitus with insulin (PMID 22042873).
Sarah Leigh Phenotypes for gene: DCXR were changed from Essential pentosuria (Disorders of pentose metabolism); [Pentosuria] 260800 to [Pentosuria] 260800
Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 2 variants identified within Ashkenazi Jewish population, that functional studies have shown to be loss of function variants that result in lack of the normal DCXR protein.