Details of Disease

General Information of Disease (ID: DISKG6SP)

Disease Name Rhizomelic chondrodysplasia punctata type 5
Synonyms
RCDP5; rhizomelic chondrodysplasia punctata, type 5; rhizomelic chondrodysplasia punctata type 5; Rcdp5; rhizomelic chondrodysplasia punctata caused by mutation in PEX5; PEX5 rhizomelic chondrodysplasia punctata
Definition Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene.
Disease Hierarchy
DIS0WY0N: Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
DISKG6SP: Rhizomelic chondrodysplasia punctata type 5
Disease Identifiers
MONDO ID
MONDO_0014743
UMLS CUI
C4225237
OMIM ID
616716
MedGen ID
900333
Orphanet ID
468717

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
PEX5 OTK4LMG7 Strong Autosomal recessive [1]
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References

1 A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. Hum Mol Genet. 2015 Oct 15;24(20):5845-54. doi: 10.1093/hmg/ddv305. Epub 2015 Jul 28.