LIPOYLTRANSFERASE 1 DEFICIENCY
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 5 |
| OrphanetNr: | |
| OMIM Id: |
616299
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0002910) | Elevated hepatic transaminases | 158 / 7739 | ||||
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(HPO:0001410) | Decreased liver function | 59 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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