Congenital trigeminal anesthesia
General Information (adopted from Orphanet):
| Synonyms, Signs: |
TRIGEMINAL ANESTHESIA, FAMILIAL |
| Number of Symptoms | 5 |
| OrphanetNr: | 231013 |
| OMIM Id: |
122450
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| ICD-10: |
G50.8 |
| 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: | No data available. |
| Inheritance: |
Not applicable [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neuro-ophthalmological disease
-Rare eye disease -Rare genetic disease Genetic peripheral neuropathy -Rare genetic disease -Rare neurologic disease Neuro-ophthalmological disease -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000495) | Recurrent corneal erosions | 20 / 7739 | ||||
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(HPO:0012155) | Decreased corneal sensation | 5 / 7739 | ||||
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(HPO:0000924) | Abnormality of the skeletal system | 114 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(OMIM) | Hypoplastic trigeminal nerves and gasserian ganglia on MRI | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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