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Glyceronephosphate O-acyltransferase deficiency

MONDO:0100273

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

Also known as: GNPAT deficiency, glyceronephosphate O-acyltransferase deficiency

2 clinical trials for this condition and its sub-types, 0 tagged with Glyceronephosphate O-acyltransferase deficiency itself.

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Where it sits in the disease tree

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Part of

↑ Disorder of plasmalogens biosynthesis (2)

Sub-types of Glyceronephosphate O-acyltransferase deficiency

Rhizomelic chondrodysplasia punctata type 2 1 trial

Including sub-types (2) Tagged with Glyceronephosphate O-acyltransferase deficiency (0)

Trials to join now! 1 Completed 1

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