rhizomelic chondrodysplasia punctate type 4

Summary
Definition
A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency.
Super Class
rhizomelic chondrodysplasia punctata
External Links
Disease Ontology
DOID:0081243
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84188 FAR1 fatty acyl-CoA reductase 1
The Human Phenotype Ontology
Displaying entries 1 - 10 of 33 in total
HPO ID HPO Term
HP:0001118 Juvenile cataract
HP:0001999 Abnormal facial shape
HP:0000319 Smooth philtrum
HP:0003698 Difficulty standing
HP:0001272 Cerebellar atrophy
HP:0000253 Progressive microcephaly
HP:0002553 Highly arched eyebrow
HP:0001250 Seizure
HP:0005280 Depressed nasal bridge
HP:0000400 Macrotia
Displaying 1 entry
Gene ID Gene Symbol Description
84188 FAR1 fatty acyl-CoA reductase 1

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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