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rhizomelic chondrodysplasia punctata type 3 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

rhizomelic chondrodysplasia punctata type 3

MONDO:0010823

Also known as:AGPS deficiencyalkyldihydroxyacetonephosphate synthase deficiencyalkylglycerone-phosphate synthase deficiency

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Overview

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

GeneticsAutosomal recessive · AGPS (chr 2)

Clinical Trials2 registered · 2 recruiting

ResearchLimited published research (1 article)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblasts. 7 total HPO annotations.

Organ System	Phenotype Count	Example Features
Growth and development	2	Failure to thrive, Disproportionate short-limb short stature

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

AGPS encodes alkylglycerone phosphate synthase (658 aa). Catalyzes the exchange of the acyl chain in acyl-dihydroxyacetonephosphate (acyl-DHAP) for a long chain fatty alcohol, yielding the first ether linked intermediate, i.e. Highest expression in Cells Cultured fibroblasts (20.9 TPM) and Cells EBV-transformed lymphocytes (19.6 TPM).

Rhizomelic chondrodysplasia punctata type 3 is associated with mutations in the AGPS gene on chromosome 2.

The AGPS protein participates in 1-palmitoylglycerone phosphate + hexadecanol = O-hexadecylglycerone phosphate + palmitate and palmitoyl-CoA + DHAP = 1-palmitoylglycerone phosphate + CoASH pathways.

AGPS is classified as a druggable target (Enzyme category) with score 0.0.

Diagnosis

Genetic testing for AGPS is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 1 always present feature.

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

1 publication has been identified in PubMed for rhizomelic chondrodysplasia punctata type 3. Research spans Basic Science / Preclinical (100%).

Recent Publications

Boulling A (2025). [PMID: 40394457](https://pubmed.ncbi.nlm.nih.gov/40394457/). *Genet Sel Evol*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:600121

Orphanet

European rare disease database

Orphanet:309803

GARD

Genetic and Rare Diseases Info Center

GARD:9682

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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rhizomelic chondrodysplasia punctata type 3

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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