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Orphanet classification of rare genetic diseases

Rare genetic disease ORPHA:98053
- Rare inborn errors of metabolism ORPHA:68367
  - Disorder of energy metabolism ORPHA:79200
    - Pyruvate metabolism disorder ORPHA:254746
      - Pyruvate dehydrogenase deficiency ORPHA:765
        
        Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
        
        Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
        
        Pyruvate dehydrogenase E2 deficiency ORPHA:79244
        
        Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
        
        Pyruvate dehydrogenase E3 deficiency ORPHA:2394
        
        Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Genetic peripheral neuropathy ORPHA:98497
    - Rare hereditary disease with peripheral neuropathy ORPHA:207015
      - Rare hereditary metabolic disease with peripheral neuropathy ORPHA:207018
        
        Mitochondrial disease with peripheral neuropathy ORPHA:225703
        
        Pyruvate dehydrogenase deficiency ORPHA:765
        
        Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
        
        Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
        
        Pyruvate dehydrogenase E2 deficiency ORPHA:79244
        
        Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
        
        Pyruvate dehydrogenase E3 deficiency ORPHA:2394
        
        Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic epilepsy ORPHA:183512
    - Metabolic diseases with epilepsy ORPHA:166481
      - Energy metabolism disorder with epilepsy ORPHA:225696
        
        Mitochondrial disease with epilepsy ORPHA:225700
        
        Pyruvate dehydrogenase deficiency ORPHA:765
        
        Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
        
        Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
        
        Pyruvate dehydrogenase E2 deficiency ORPHA:79244
        
        Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
        
        Pyruvate dehydrogenase E3 deficiency ORPHA:2394
        
        Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246

Rare genetic disease ORPHA:98053
- Rare genetic neurological disorder ORPHA:71859
  - Rare genetic intellectual disability ORPHA:183757
    - Rare genetic syndromic intellectual disability ORPHA:183763
      - X-linked syndromic intellectual disability ORPHA:98464
        
        Syndromic neurometabolic disease with X-linked intellectual disability ORPHA:182076
        
        Pyruvate dehydrogenase deficiency ORPHA:765
        
        Pyruvate dehydrogenase E1-alpha deficiency ORPHA:79243
        
        Pyruvate dehydrogenase E1-beta deficiency ORPHA:255138
        
        Pyruvate dehydrogenase E2 deficiency ORPHA:79244
        
        Pyruvate dehydrogenase E3-binding protein deficiency ORPHA:255182
        
        Pyruvate dehydrogenase E3 deficiency ORPHA:2394
        
        Pyruvate dehydrogenase phosphatase deficiency ORPHA:79246

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