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Peroxisomal disease

MONDO:0019053

A group of congenital disorders of lipid metabolism, caused by loss of the normal peroxisomes. Signs and symptoms include developmental delays, intellectual disability, characteristic facial dysmorphic features, hepatomegaly, and hypotonia.

Also known as: disorder of peroxisomal function, peroxisomal disease, peroxisomal disorder, peroxisomal function disorder

54 clinical trials for this condition and its sub-types.

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Sub-types

Adrenoleukodystrophy (16) Primary hyperoxaluria type 1 (8) Adrenomyeloneuropathy (6) Zellweger spectrum disorders (5) Adult Refsum disease (4) Peroxisome biogenesis disorder (4) X-linked cerebral adrenoleukodystrophy (3) Alpha-methylacyl-CoA racemase deficiency (2) D-bifunctional protein deficiency (2) Peroxisomal acyl-CoA oxidase deficiency (2) Acyl-CoA binding domain containing protein 5 deficiency (1) Mitchell syndrome (1) Peroxisome biogenesis disorder 1B (1) Rhizomelic chondrodysplasia punctata (1) Sterol carrier protein 2 deficiency (1) Acatalasia (0) Adult Refsum disease due to PEX7 defect (0) Alanine glyoxylate aminotransferase deficiency (0) Alkylglycerone-phosphate synthase deficiency (0) Bile acid CoA:amino acid N-acyltransferase deficiency (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Disease of genetic or genomic mechanism (2) Disease by developmental or physiological process (0) Disease by etiologic mechanism (0)
Trials to join now! 27 Not yet recruiting 7 Not yet finished but already full! 9 Completed 9 Terminated 2
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