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Alkylglycerone-phosphate synthase deficiency

MONDO:0100274

Any disorder of plasmalogen biosynthesis in which the cause of the disease is a mutation in the AGPS gene.

Also known as: AGPS deficiency, alkylglycerone-phosphate synthase deficiency

2 clinical trials for this condition and its sub-types.

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Sub-types

Rhizomelic chondrodysplasia punctata type 3 (1)

Broader categories

Disease (680) Metabolic disease (233) Inherited lipid metabolism disorder (189) Hereditary disease (176) Inborn errors of metabolism (45) Human disease (14) Disease of genetic or genomic mechanism (2) Peroxisomal disease (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 1 Completed 1
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  • Can a patient registry unlock the secrets of a rare bone disorder?

    Knowledge-focused Recruiting now

    This study creates a registry to collect medical information from people with rhizomelic chondrodysplasia punctata (RCDP) and closely related conditions. The goal is to better understand the natural history of these rare disorders and identify factors that may predict health outc…

    Sponsor: Nemours Children's Clinic • Aim: Knowledge-focused

    Last updated Aug 09, 2026 00:00 UTC

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