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Fatty acyl-CoA reductase 1 upregulation

MONDO:0100230

A disorder of plasmalogens biosynthesis, that is an autosomal dominant neurological disorder that results in uncontrolled synthesis of ether lipids.

Also known as: FAR1 upregulation, fatty acyl-CoA reductase 1 upregulation

1 clinical trial for this condition and its sub-types.

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Broader categories

Disease (717) Nervous system disorder (243) Metabolic disease (241) Inherited lipid metabolism disorder (199) Hereditary disease (188) Inborn errors of metabolism (47) Human disease (15) Hereditary neurological disease (6) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2)
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  • New diagnostic strategy aims to end diagnostic odyssey for rare diseases

    Diagnosis Completed

    This study tested a new approach to diagnose peroxisomal disorders, a group of rare genetic diseases. The strategy uses advanced metabolic and genetic tests to find the cause faster in people with suspicious symptoms or lab results. Researchers included 8 participants from four h…

    Sponsor: University Hospital, Lille • Aim: Diagnosis

    Last updated Jun 27, 2026 08:02 UTC

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