Mitchell syndrome
MONDO:0030073A 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.
Also known as: ACOX1 upregulation, MITCH, Mitchell syndrome
2 clinical trials for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Human disease
(14)
Disease of genetic or genomic mechanism
(2)
Peroxisomal disease
(2)
Disease by developmental or physiological process
(0)
Disease by etiologic mechanism
(0)
Disorder of defective peroxisome oxidative status
(0)