CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, 4
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET FECD4 |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
613268
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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: |
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| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001131) | Corneal dystrophy | 56 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Molecular genetics OMIM |
Vithana et al. (2008) analyzed the SLC4A11 gene (610206) in 89 patients with late-onset FECD, 8 of whom had a family history of FECD, and identified 4 heterozygous mutations in 1 familial and 3 sporadic cases (610206.0017-610206.0020), respectively. ... |