Mitochondrial nonsyndromic sensorineural deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Isolated mitochondrial sensorineural deafness Mitochondrial nonsyndromic neurosensory deafness Isolated mitochondrial neurosensory deafness |
| Number of Symptoms | 4 |
| OrphanetNr: | 90641 |
| OMIM Id: |
221745
500008 |
| ICD-10: |
H90.3 |
| 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 inheritance [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
-Rare developmental defect during embryogenesis -Rare genetic disease -Rare neurologic disease Postlingual nonsyndromic genetic deafness -Rare genetic disease -Rare otorhinolaryngologic disease Prelingual nonsyndromic genetic deafness -Rare genetic disease -Rare otorhinolaryngologic disease |
Symptom Information:
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(HPO:0000408) | Progressive sensorineural hearing impairment | 28 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0003621) | Juvenile onset | 105 / 7739 | ||||
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(HPO:0001427) | Mitochondrial inheritance | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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