rhizomelic chondrodysplasia punctata type 3
Findings
No curated finding names rhizomelic chondrodysplasia punctata type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
Definition from the Mondo Disease Ontology (MONDO:0010823), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
1 feature
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Reduced alkyl-dihydroxyacetonephosphate synthase activity in cultured fibroblastsHPOHP:6000427
- 1 of 1 reported patient
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- AGPSHGNC:327
- Definitive · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2023
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
3 names
Resolves to: rhizomelic chondrodysplasia punctata type 3
- Also called
- AGPS rhizomelic chondrodysplasia punctataRCDP3rhizomelic chondrodysplasia punctata caused by mutation in AGPS