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

38 clinical trials for this condition and its sub-types, 2 tagged with Peroxisomal disease itself.

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Where it sits in the disease tree

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Part of

↑ Inborn errors of metabolism (2228)

Sub-types of Peroxisomal disease

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 →
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 →
CADDS 0 trials
Disorder of defective peroxisomal and mitochondrial fission 0 trials
1 sub-type
- Encephalopathy due to mitochondrial and peroxisomal fission defect 0 trials Sub-types →

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)

Including sub-types (38) Tagged with Peroxisomal disease (2)

Trials to join now! 20 Not yet recruiting 3 Not yet finished but already full! 9 Completed 4 Terminated 2

Peroxisomal disease

Where it sits in the disease tree

Most studied deeper sub-types

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