Posterior amorphous corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
POSTERIOR AMORPHOUS CORNEAL DYSTROPHY PACD Posterior amorphous stromal dystrophy |
| Number of Symptoms | 4 |
| OrphanetNr: | 98971 |
| OMIM Id: |
612868
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| 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: |
Autosomal dominant [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Stromal 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:0000540) | Hypermetropia | 99 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 | ||||
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(HPO:0003593) | Infantile onset | 249 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Carpel et al. (1977) observed a posterior corneal dystrophy characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic. There was no evidence of stromal ... |