Mitochondrial myopathy - lactic acidosis - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Mitochondrial myopathy - lactic acidosis - hearing loss |
| Number of Symptoms | 30 |
| OrphanetNr: | 2597 |
| OMIM Id: |
251950
|
| ICD-10: |
G71.3 |
| UMLs: |
C1855033 |
| MeSH: |
C537476 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial myopathy
-Rare genetic disease -Rare neurologic disease Syndromic genetic deafness -Rare developmental defect during embryogenesis -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
|
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
|
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(HPO:0008504) | Moderate sensorineural hearing impairment | 1 / 7739 | ||||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0001310) | Dysmetria | 76 / 7739 | ||||
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(HPO:0001332) | Dystonia | 197 / 7739 | ||||
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(HPO:0001257) | Spasticity | 251 / 7739 | ||||
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(HPO:0002384) | Focal seizures with impairment of consciousness or awareness | 17 / 7739 | ||||
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(HPO:0001269) | Hemiparesis | 51 / 7739 | ||||
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(HPO:0001250) | Seizures | Frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002572) | Episodic vomiting | 12 / 7739 | ||||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001510) | Growth delay | 295 / 7739 | ||||
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(HPO:0008897) | Postnatal growth retardation | 113 / 7739 | ||||
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(HPO:0002151) | Increased serum lactate | 92 / 7739 | ||||
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(HPO:0003542) | Increased serum pyruvate | 18 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | Very frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0003348) | Hyperalaninemia | 19 / 7739 | ||||
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(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(HPO:0003391) | Gowers sign | 37 / 7739 | ||||
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(HPO:0003198) | Myopathy | Very frequent [Orphanet] | 151 / 7739 | |||
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(HPO:0003737) | Mitochondrial myopathy | 18 / 7739 | ||||
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(HPO:0001252) | Muscular hypotonia | 990 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | Very frequent [Orphanet] | 281 / 7739 | |||
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(HPO:0040083) | Toe walking | 15 / 7739 | ||||
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(OMIM) | Elevated blood pyruvate | 1 / 7739 | ||||
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(OMIM) | Muscle weakness, severe | 3 / 7739 | ||||
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(OMIM) | Hyperalaninuria | 1 / 7739 | ||||
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(OMIM) | Large and numerous mitochondria by EM | 1 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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