Details of Disease | DrugMAP

General Information of Disease (ID: DISG7Y7E)

Disease Name	Rhizomelic chondrodysplasia punctata type 1
Synonyms	RCDP1; chondrodystrophia calcificans punctata; chondrodysplasia punctata, rhizomelic form; Rcdp1; peroxisome biogenesis disorder 9; rhizomelic chondrodysplasia punctata caused by mutation in PEX7; rhizomelic chondrodysplasia punctata, type 1; rhizomelic chondrodysplasia punctata type 1; Pbd9; PEX7 rhizomelic chondrodysplasia punctata
Definition	A condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems. The condition is caused by mutations in the PEX7 gene. It is inherited in an autosomal recessive pattern. Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have similar features and are distinguished by their genetic cause.
Disease Hierarchy	DIS1L24B: Eye degenerative disorder DISRU5ZM: Peroxisome biogenesis disorder due to PEX7 defect DISPGGVL: Syndromic dyslipidemia DISF3YE7: Rhizomelic chondrodysplasia punctata DISG7Y7E: Rhizomelic chondrodysplasia punctata type 1
Disease Identifiers	MONDO ID MONDO_0008972 MESH ID C531651 UMLS CUI C1859133 OMIM ID 215100 MedGen ID 347072 Orphanet ID 309789 SNOMED CT ID 1003862001

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
HSD17B4	TTL1WGS	Strong	Biomarker	[1]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PEX5	OTK4LMG7	Strong	Genetic Variation	[2]
PEX7	OTM7VBRC	Definitive	Autosomal recessive	[3]
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References

1	Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid.J Lipid Res. 2001 Dec;42(12):1987-95.
2	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.
3	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.