X-linked endothelial corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
ENDOTHELIAL CORNEAL DYSTROPHY, X-LINKED XECD |
| Number of Symptoms | 3 |
| OrphanetNr: | 293621 |
| OMIM Id: |
300779
|
| ICD-10: |
H18.5 |
| 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: |
X-linked recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Posterior corneal dystrophy
-Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
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(HPO:0007957) | Corneal opacity | 84 / 7739 | ||||
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(HPO:0001423) | X-linked dominant inheritance | 69 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Schmid et al. (2006) reported a 7-generation family segregating X-linked endothelial corneal dystrophy. Thirty-five trait carriers were identified in 4 generations. Nine male patients demonstrated severe corneal opacifications: 2 had congenital corneal clouding in the form of a ... |