Details of Disease

General Information of Disease (ID: DISF3YE7)

Disease Name Rhizomelic chondrodysplasia punctata
Synonyms rhizomelic chondrodysplasia punctata; RCDP; rhizomelic dwarfism; rhizomelic chondrodysplasia punctata syndrome; chondrodysplasia punctata, rhizomelic form
Definition Rhizomelic chondrodysplasia is a form chondrodysplasia punctata, a group of diseases in which the common characteristic is calcifications near joints at birth.
Disease Hierarchy
DISERVGO: Chondrodysplasia punctata
DISB52BH: Eye disorder
DISBEK8G: Disorder of plasmalogens biosynthesis
DISF3YE7: Rhizomelic chondrodysplasia punctata
Disease Identifiers
MONDO ID
MONDO_0015776
MESH ID
D018902
UMLS CUI
C0282529
MedGen ID
79471
Orphanet ID
177
SNOMED CT ID
56692003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
MVK TT5DFHW Strong Biomarker [1]
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This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FAR1 OTLHTYIE Strong Biomarker [2]
GNPAT OTF6LWPO Strong Genetic Variation [3]
PEX5 OTK4LMG7 Strong Genetic Variation [2]
AGPS OTFBFPV4 Definitive Biomarker [4]
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References

1 Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis.Biochem Biophys Res Commun. 1998 Jun 29;247(3):663-7. doi: 10.1006/bbrc.1998.8836.
2 Growth charts for individuals with rhizomelic chondrodysplasia punctata.Am J Med Genet A. 2017 Jan;173(1):108-113. doi: 10.1002/ajmg.a.37961. Epub 2016 Sep 12.
3 A peroxisomal disorder of severe intellectual disability, epilepsy, and cataracts due to fatty acyl-CoA reductase 1 deficiency. Am J Hum Genet. 2014 Nov 6;95(5):602-10. doi: 10.1016/j.ajhg.2014.10.003. Epub 2014 Oct 30.
4 Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation.J Hum Genet. 2014 Jul;59(7):387-92. doi: 10.1038/jhg.2014.39. Epub 2014 May 22.