Posterior polymorphous corneal dystrophy
General Information (adopted from Orphanet):
| Synonyms, Signs: |
PPCD Schlichting dystrophy Posterior polymorphous dystrophy |
| Number of Symptoms | 7 |
| OrphanetNr: | 98973 |
| OMIM Id: |
122000
609140 609141 |
| 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: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Posterior corneal dystrophy
-Rare eye disease -Rare genetic disease Secondary glaucoma due to a proliferation and differentiation anomaly -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000687) | Widely spaced teeth | 40 / 7739 | ||||
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(HPO:0007915) | Polymorphous posterior corneal dystrophy | 2 / 7739 | ||||
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(HPO:0000501) | Glaucoma | 180 / 7739 | ||||
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(HPO:0000491) | Keratitis | 21 / 7739 | ||||
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(HPO:0001131) | Corneal dystrophy | 56 / 7739 | ||||
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(HPO:0001513) | Obesity | 172 / 7739 | ||||
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(HPO:0000006) | Autosomal dominant inheritance | 2518 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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