Leigh syndrome with leukodystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Infantile subacute necrotizing encephalopathy with leukodystrophy Leigh disease with leukodystrophy |
| Number of Symptoms | 16 |
| OrphanetNr: | 255241 |
| OMIM Id: |
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| ICD-10: |
G31.8 |
| 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: |
Mitochondrial 17209980 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Leigh syndrome
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease -Rare neurologic disease |
Comment:
| Two male Taiwanese siblings in whom the T->C point mutation at nucleotide 9176 of the mitochondrial ATPase 6 gene (m.9176T>C mutation) was associated with early onset hypotonia, lactic acidosis, and death due to respiratory arrest at 7 and 10 months old are reported. The m.9176T>C mutation changes a highly conserved leucine to a proline in the mitochondrial ATPase 6 gene and is maternally inherited (PMID:17209980). Involved genes: MT-ATP6 (PMID:17209980); |
Symptom Information:
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(HPO:0002013) | Vomiting | 7625545 | IBIS | 191 / 7739 | ||
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(HPO:0003128) | Lactic acidosis | 7625545 | IBIS | 116 / 7739 | ||
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(HPO:0002119) | Ventriculomegaly | 7625545 | IBIS | 253 / 7739 | ||
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(HPO:0008972) | Decreased activity of mitochondrial respiratory chain | 7625545 | IBIS | 34 / 7739 | ||
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(HPO:0008314) | Decreased activity of mitochondrial complex II | 1492653 | IBIS | 7 / 7739 | ||
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(HPO:0008347) | Decreased activity of mitochondrial complex IV | 7625545 | IBIS | 31 / 7739 | ||
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(HPO:0001252) | Muscular hypotonia | 17209980 | IBIS | 990 / 7739 | ||
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(HPO:0002510) | Spastic tetraplegia | 7625545 | IBIS | 54 / 7739 | ||
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(HPO:0002361) | Psychomotor deterioration | 7625545 | IBIS | 26 / 7739 | ||
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(HPO:0001263) | Global developmental delay | 7625545 | IBIS | 853 / 7739 | ||
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(HPO:0002015) | Dysphagia | 7625545 | IBIS | 301 / 7739 | ||
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(HPO:0003548) | Subsarcolemmal accumulations of abnormally shaped mitochondria | 7625545 | IBIS | 9 / 7739 | ||
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(HPO:0002500) | Abnormality of the cerebral white matter | 1492653 | IBIS | 73 / 7739 | ||
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(HPO:0012128) | Basal ganglia necrosis | 1492653 | IBIS | 3 / 7739 | ||
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(HPO:0001272) | Cerebellar atrophy | 7625545 | IBIS | 197 / 7739 | ||
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(HPO:0002415) | Leukodystrophy | 1492653 | IBIS | 30 / 7739 |
Associated genes:
| MT-ATP6; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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