Decreased activity of the pyruvate dehydrogenase complex
Symptom Information:
Symptom ID: | HPO:0002928 | ||||||
Synonyms: |
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Quality: | |||||||
Cross references: |
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Is a (Direct Parents): |
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Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of metabolism/homeostasis(HPO:0001939) Abnormality of cell physiology(HPO:0011017) Abnormality of the mitochondrion(HPO:0012103) Abnormality of mitochondrial metabolism(HPO:0003287) Decreased activity of the pyruvate dehydrogenase complex(HPO:0002928) MedDRA: |
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Database Frequency: | 10 / 7739 | ||||||
Resource: |
All diseases associated with this symptom:
Leigh syndrome | (Orphanet:506) |
Pyruvate dehydrogenase E1-alpha deficiency | (Orphanet:79243) |
Pyruvate dehydrogenase E1-beta deficiency | (Orphanet:255138) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase E3 deficiency | (Orphanet:2394) |
Pyruvate dehydrogenase E3-binding protein deficiency | (Orphanet:255182) |
Pyruvate dehydrogenase lipoic acid synthetase deficiency | (OMIM:614462) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
TRICARBOXYLIC ACID CYCLE, DEFECT OF | (OMIM:275370) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |