peroxisomal acyl-CoA oxidase deficiency

Summary
Synonym
  • Peroxisomal acyl-coenzyme A oxidase
Definition
A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Super Class
autosomal recessive disease peroxisomal disease
External Links
Disease Ontology
DOID:0050797
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51 ACOX1 acyl-CoA oxidase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
37028 ACOX1 acyl-CoA oxidase 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q15067 Peroxisomal acyl-coenzyme A oxidase 1
The Human Phenotype Ontology
Displaying entries 11 - 20 of 53 in total
HPO ID HPO Term
HP:0000512 Abnormal electroretinogram
HP:0002376 Developmental regression
HP:0000649 Abnormality of visual evoked potentials
HP:0001347 Hyperreflexia
HP:0000286 Epicanthus
HP:0001263 Global developmental delay
HP:0002167 Abnormality of speech or vocalization
HP:0000545 Myopia
HP:0005280 Depressed nasal bridge
HP:0000668 Hypodontia
Displaying 1 entry
Gene ID Gene Symbol Description
51 ACOX1 acyl-CoA oxidase 1

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024