Peroxisomal disease
MONDO:0019053A 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
38 clinical trials for this condition and its sub-types, 2 tagged with Peroxisomal disease itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Peroxisomal disease
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Peroxisomal single enzyme/protein defect 0 trials · 35 incl. sub-types
7 sub-types
- Disorder of peroxisomal transporter 0 trials · 21 incl. sub-types Sub-types →
- Disorder of glyoxylate metabolism 0 trials · 10 incl. sub-types Sub-types →
- Disorder of peroxisomal alpha oxidation 0 trials · 4 incl. sub-types Sub-types →
- Disorder of peroxisomal beta oxidation 0 trials · 2 incl. sub-types Sub-types →
- Disorder of plasmalogens biosynthesis 0 trials · 2 incl. sub-types Sub-types →
- Disorder of defective peroxisome oxidative status 0 trials · 1 incl. sub-types Sub-types →
- Disorder of bile acid aminotransferase 0 trials Sub-types →
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Peroxisome biogenesis disorder 4 trials · 8 incl. sub-types
2 sub-types
- Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
- Non-Zellweger spectrum disorder 0 trials · 1 incl. sub-types Sub-types →
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CADDS 0 trials
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1 sub-type
Most studied deeper sub-types
Adrenoleukodystrophy
(19)
Primary hyperoxaluria type 1
(10)
Adrenomyeloneuropathy
(7)
Adult Refsum disease
(4)
X-linked cerebral adrenoleukodystrophy
(4)
Alpha-methylacyl-CoA racemase deficiency
(2)
D-bifunctional protein deficiency
(2)
Peroxisomal acyl-CoA oxidase deficiency
(2)
Rhizomelic chondrodysplasia punctata
(2)
Acyl-CoA binding domain containing protein 5 deficiency
(1)
Mitchell syndrome
(1)
Peroxisome biogenesis disorder 1B
(1)
Rhizomelic chondrodysplasia punctata type 1
(1)
Rhizomelic chondrodysplasia punctata type 2
(1)
Rhizomelic chondrodysplasia punctata type 3
(1)
Rhizomelic chondrodysplasia punctata type 5
(1)
Sterol carrier protein 2 deficiency
(1)
Acatalasia
(0)
Adult Refsum disease due to PEX7 defect
(0)
Alanine glyoxylate aminotransferase deficiency
(0)