Cataract - ataxia - deafness
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POLYNEUROPATHY-CATARACT-DEAFNESS SYNDROME |
| Number of Symptoms | 21 |
| OrphanetNr: | 1368 |
| OMIM Id: |
212710
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| ICD-10: |
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| UMLs: |
C0796123 |
| MeSH: |
C538283 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 2 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Rare hereditary ataxia
-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:0000639) | Nystagmus | Frequent [Orphanet] | 555 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0000572) | Visual loss | Frequent [Orphanet] | 272 / 7739 | |||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0000407) | Sensorineural hearing impairment | Very frequent [Orphanet] | 524 / 7739 | |||
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(HPO:0008615) | Adult onset sensorineural hearing impairment | 4 / 7739 | ||||
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(HPO:0001284) | Areflexia | 198 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Very frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0002936) | Distal sensory impairment | 96 / 7739 | ||||
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(HPO:0001337) | Tremor | Frequent [Orphanet] | 200 / 7739 | |||
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(HPO:0009830) | Peripheral neuropathy | Very frequent [Orphanet] | 206 / 7739 | |||
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(HPO:0001251) | Ataxia | 413 / 7739 | ||||
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(HPO:0001271) | Polyneuropathy | 56 / 7739 | ||||
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(HPO:0003134) | Abnormality of peripheral nerve conduction | Very frequent [Orphanet] | 38 / 7739 | |||
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(HPO:0001315) | Reduced tendon reflexes | Very frequent [Orphanet] | 160 / 7739 | |||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001256) | Intellectual disability, mild | 141 / 7739 | ||||
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(HPO:0004322) | Short stature | Frequent [Orphanet] | 1232 / 7739 | |||
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(OMIM) | Proprioceptive loss | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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