DEAFNESS, SENSORINEURAL, AUTOSOMAL-MITOCHONDRIAL TYPE
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
221745
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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: |
Autosomal recessive inheritance Mitochondrial inheritance [Omim] |
| Age of onset: |
Juvenile onset [Omim] |
Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000408) | Progressive sensorineural hearing impairment | 28 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Jaber et al. (1992) presented the findings in a large Israeli Arab kindred with hereditary deafness. Fifty-five deaf subjects (29 male, 26 female), who were otherwise healthy, were traced back 5 generations to a common female ancestor. The ... |
| Molecular genetics OMIM | Prezant et al. (1993) demonstrated a homoplasmic 1555A-G (561000.0001) mutation in the mitochondrial 12S ribosomal RNA gene (MTRNR1) in the family reported by Jaber et al. (1992). |