Details of Disease | DrugMAP

General Information of Disease (ID: DISF8Z23)

Disease Name	Rhizomelic chondrodysplasia punctata type 3
Synonyms	rhizomelic chondrodysplasia punctata, type 3; alkyldihydroxyacetonephosphate synthase deficiency; alkylglycerone-phosphate synthase deficiency; AGPS deficiency; rhizomelic chondrodysplasia punctata type 3; AGPS rhizomelic chondrodysplasia punctata; rhizomelic chondrodysplasia punctata caused by mutation in AGPS; RCDP3
Definition	Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the AGPS gene.
Disease Hierarchy	DISAJBBU: Alkylglycerone-phosphate synthase deficiency DISF3YE7: Rhizomelic chondrodysplasia punctata DISF8Z23: Rhizomelic chondrodysplasia punctata type 3
Disease Identifiers	MONDO ID MONDO_0010823 MESH ID C537608 UMLS CUI C1838612 OMIM ID 600121 MedGen ID 374012 Orphanet ID 309803 SNOMED CT ID 1003858007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AGPS	OTFBFPV4	Definitive	Autosomal recessive	[1]
------------------------------------------------------------------------------------

References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.