X-linked hereditary sensory and autonomic neuropathy with deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
AUDITORY NEUROPATHY, X-LINKED, 1, WITH PERIPHERAL SENSORY NEUROPATHY AUNX1 DFNX5 X-linked HSAN with deafness X-linked auditory neuropathy with peripheral sensory neuropathy type 1 |
| Number of Symptoms | 10 |
| OrphanetNr: | 139583 |
| OMIM Id: |
300614
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| ICD-10: |
G60.8 |
| 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: | 1 family [Orphanet] |
| Inheritance: |
X-linked recessive [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Hereditary sensory and autonomic neuropathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0000365) | Hearing impairment | 539 / 7739 | ||||
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(HPO:0004454) | Abnormal middle ear reflexes | 1 / 7739 | ||||
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(HPO:0001730) | Progressive hearing impairment | 29 / 7739 | ||||
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(HPO:0001963) | Abnormal speech discrimination | 2 / 7739 | ||||
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(HPO:0002936) | Distal sensory impairment | 96 / 7739 | ||||
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(HPO:0003390) | Sensory axonal neuropathy | 26 / 7739 | ||||
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(HPO:0001419) | X-linked recessive inheritance | 189 / 7739 | ||||
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(OMIM) | Loss of outer hair cell function | 1 / 7739 | ||||
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(OMIM) | Decreased otoacoustic emission amplitude | 1 / 7739 | ||||
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(OMIM) | Abnormal auditory brainstem responses | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Wang et al. (2006) studied an extended 5-generation Chinese family with a form of deafness referred to as auditory neuropathy. The family had originally been described by Wang et al. (2003). Auditory neuropathy is a type of hearing ... |