Peroxisomal single enzyme/protein defect

MONDO:0100257

Any peroxisomal disease in which the cause of the disease is a defect in a single enyme or protein.

Also known as: peroxisomal single enzyme/protein defect

36 clinical trials for this condition and its sub-types, 0 tagged with Peroxisomal single enzyme/protein defect itself.

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Where it sits in the disease tree

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Part of

↑ Peroxisomal disease (38)

Sub-types of Peroxisomal single enzyme/protein defect

Disorder of peroxisomal transporter 0 trials · 21 incl. sub-types
3 sub-types
- Adrenoleukodystrophy 19 trials · 20 incl. sub-types Sub-types →
- Acyl-CoA binding domain containing protein 5 deficiency 1 trial
- Congenital bile acid synthesis defect 5 0 trials
Disorder of glyoxylate metabolism 0 trials · 10 incl. sub-types
1 sub-type
- Alanine glyoxylate aminotransferase deficiency 0 trials · 10 incl. sub-types Sub-types →
Disorder of peroxisomal alpha oxidation 0 trials · 4 incl. sub-types
1 sub-type
- Phytanoyl-CoA hydroxylase deficiency 0 trials · 4 incl. sub-types Sub-types →
Disorder of peroxisomal beta oxidation 0 trials · 2 incl. sub-types
5 sub-types
- Alpha-methylacyl-CoA racemase deficiency 2 trials Sub-types →
- D-bifunctional protein deficiency 2 trials
- Peroxisomal acyl-CoA oxidase deficiency 2 trials
- Acyl-CoA binding domain containing protein 5 deficiency 1 trial
- Sterol carrier protein 2 deficiency 1 trial
Disorder of plasmalogens biosynthesis 0 trials · 2 incl. sub-types
5 sub-types
- Rhizomelic chondrodysplasia punctata 2 trials Sub-types →
- Acyl-CoA binding domain containing protein 5 deficiency 1 trial
- Alkylglycerone-phosphate synthase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Glyceronephosphate O-acyltransferase deficiency 0 trials · 1 incl. sub-types Sub-types →
- Fatty acyl-CoA reductase defects 0 trials Sub-types →
Disorder of defective peroxisome oxidative status 0 trials · 1 incl. sub-types
3 sub-types
- Mitchell syndrome 1 trial
- Acatalasia 0 trials
- Mulibrey nanism 0 trials
Disorder of bile acid aminotransferase 0 trials
1 sub-type
- Bile acid CoA:amino acid N-acyltransferase deficiency 0 trials

Most studied deeper sub-types

Primary hyperoxaluria type 1 (10) Adrenomyeloneuropathy (7) Adult Refsum disease (4) X-linked cerebral adrenoleukodystrophy (4) Rhizomelic chondrodysplasia punctata type 1 (1) Rhizomelic chondrodysplasia punctata type 2 (1) Rhizomelic chondrodysplasia punctata type 3 (1) Rhizomelic chondrodysplasia punctata type 5 (1) Congenital bile acid synthesis defect 4 (0) Fatty acyl-CoA reductase 1 deficiency (0) Fatty acyl-CoA reductase 1 upregulation (0) Isolated adrenal insufficiency (0) Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain (0)

Including sub-types (36) Tagged with Peroxisomal single enzyme/protein defect (0)

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