Fatal multiple mitochondrial dysfunction syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 10 |
| OrphanetNr: | 289573 |
| OMIM Id: |
605711
614299 |
| 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: |
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0001263) | Global developmental delay | 853 / 7739 | ||||
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(HPO:0001254) | Lethargy | 104 / 7739 | ||||
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(HPO:0011968) | Feeding difficulties | 240 / 7739 | ||||
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(HPO:0001508) | Failure to thrive | 454 / 7739 | ||||
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(HPO:0002092) | Pulmonary hypertension | 109 / 7739 | ||||
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(HPO:0008972) | Decreased activity of mitochondrial respiratory chain | 34 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0002878) | Respiratory failure | 57 / 7739 | ||||
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(HPO:0001324) | Muscle weakness | 859 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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