rhizomelic chondrodysplasia punctata type 3

Summary
Synonym
  • Agps Deficiency
  • Alkyldihydroxyacetonephosphate Synthase Deficiency
  • Alkylglycerone-Phosphate Synthase Deficiency
  • Rcdp3
Definition
A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2.
Super Class
rhizomelic chondrodysplasia punctata
External Links
Disease Ontology
DOID:0110853
Mondo Disease Ontology
MeSH
ORDO
OMIM
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 8 entries
Gene ID Gene Symbol Description Source
412 STS steroid sulfatase
1718 DHCR24 24-dehydrocholesterol reductase
8443 GNPAT glyceronephosphate O-acyltransferase
8540 AGPS alkylglycerone phosphate synthase
10682 EBP EBP cholestenol delta-isomerase
50814 NSDHL NAD(P) dependent steroid dehydrogenase-like
285362 SUMF1 sulfatase modifying factor 1
347527 ARSH arylsulfatase family member H
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0005792 Short humerus
HP:0001508 Failure to thrive
HP:0008905 Rhizomelia
HP:0000007 Autosomal recessive inheritance
HP:0008873 Disproportionate short-limb short stature
HP:0010655 Epiphyseal stippling
HP:0003097 Short femur
Displaying 1 entry
Gene ID Gene Symbol Description
8540 AGPS alkylglycerone phosphate synthase

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024