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rhizomelic chondrodysplasia punctata type 3 | RareConnect | RareConnect.io

/rhizomelic chondrodysplasia punctata

/alkylglycerone-phosphate synthase deficiency

/rhizomelic chondrodysplasia punctata type 3

rhizomelic chondrodysplasia punctata type 3

Rare Disease

MONDO:0010823

Also Known As

AGPS deficiencyalkyldihydroxyacetonephosphate synthase deficiencyalkylglycerone-phosphate synthase deficiencyAGPS rhizomelic chondrodysplasia punctataRCDP3rhizomelic chondrodysplasia punctata caused by mutation in AGPSrhizomelic chondrodysplasia punctata type 3rhizomelic chondrodysplasia punctata, type 3

Definition

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

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:600121 ↗

Orphanet

Orphanet:309803 ↗

GARD

Related Diseases

rhizomelic chondrodysplasia punctata type 1

MONDO:0008972

rhizomelic chondrodysplasia punctata type 2

MONDO:0009112

peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

MONDO:0100265

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