Mitchell syndrome

Summary
Definition
A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1.
Super Class
autosomal dominant disease peroxisomal disease
External Links
Disease Ontology
DOID:0070516
Mondo Disease Ontology
UMLS
ORDO
OMIM
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
The Human Phenotype Ontology
Displaying entries 11 - 14 of 14 in total
HPO ID HPO Term
HP:0001298 Encephalopathy
HP:0012332 Abnormal autonomic nervous system physiology
HP:0002015 Dysphagia
HP:0002522 Areflexia of lower limbs
Displaying 1 entry
Gene ID Gene Symbol Description
51 ACOX1 acyl-CoA oxidase 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