Autosomal dominant nonsyndromic sensorineural deafness type DFNA
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Autosomal dominant nonsyndromic sensorineural hearing loss type DFNA Autosomal dominant nonsyndromic neurosensory deafness type DFNA Autosomal dominant isolated sensorineural hearing loss type DFNA Autosomal dominant nonsyndromic neurosensory hearing loss type DFNA Autosomal dominant isolated sensorineural deafness type DFNA Autosomal dominant isolated neurosensory hearing loss type DFNA Autosomal dominant isolated neurosensory deafness type DFNA |
| Number of Symptoms | 5 |
| OrphanetNr: | 90635 |
| OMIM Id: |
124900
600101 600652 600965 600994 601316 601317 601369 601412 601543 601544 601868 602459 603622 603964 604717 605192 605583 606012 606282 606346 606451 606705 607017 607197 607453 607683 607841 608224 608372 608394 608641 608645 608652 609129 609965 612431 612642 612643 612644 613074 613558 614152 614211 614614 |
| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
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:0008542) | Low-frequency hearing loss | 2 / 7739 | ||||
|
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(HPO:0000407) | Sensorineural hearing impairment | 524 / 7739 | ||||
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(HPO:0001730) | Progressive hearing impairment | 29 / 7739 | ||||
|
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(HPO:0011463) | Childhood onset | 65 / 7739 | ||||
|
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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