Rhizomelic chondrodysplasia punctata type 2

MONDO:0009112

Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the GNPAT gene.

Also known as: Dhapat deficiency, Dihydroxyacetonephosphate acyltransferase deficiency, GNPAT rhizomelic chondrodysplasia punctata, Glyceronephosphate O-acyltransferase deficiency, Gnpat deficiency, RCDP2, Rcdp2, chondrodysplasia punctata, rhizomelic, due to Dihydroxyacetonephosphate acyltransferase deficiency

2 clinical trials for this condition and its sub-types, 1 tagged with Rhizomelic chondrodysplasia punctata type 2 itself.

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Where it sits in the disease tree

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Part of

↑ Rhizomelic chondrodysplasia punctata (2) ↑ Glyceronephosphate O-acyltransferase deficiency (1)

Including sub-types (2) Tagged with Rhizomelic chondrodysplasia punctata type 2 (1)

Trials to join now! 1 Completed 1

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

Rhizomelic chondrodysplasia punctata type 2

Where it sits in the disease tree

New diagnostic strategy aims to end diagnostic odyssey for rare diseases