Pyruvate dehydrogenase deficiency
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PDH PDHC Pyruvate dehydrogenase complex deficiency |
| Number of Symptoms | 0 |
| OrphanetNr: | 765 |
| OMIM Id: |
245348
245349 246900 312170 608782 614111 |
| ICD-10: |
E74.4 |
| UMLs: |
C0034345 C2936911 |
| MeSH: |
C536257 D015325 |
| MedDRA: |
|
| Snomed: |
46683007 |
Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
X-linked Autosomal recessive X-linked dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial disease
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Mitochondrial disease with epilepsy -Rare neurologic disease Mitochondrial disease with peripheral neuropathy -Rare genetic disease -Rare neurologic disease Pyruvate metabolism disorder -Rare genetic disease Syndromic neurometabolic disease with X-linked intellectual deficit -Rare genetic disease -Rare neurologic disease |
Comment:
| This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|