Microcornea - posterior megalolenticonus - persistent fetal vasculature - coloboma
General Information (adopted from Orphanet):
| Synonyms, Signs: |
MPPC syndrome |
| Number of Symptoms | 6 |
| OrphanetNr: | 231736 |
| OMIM Id: |
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| ICD-10: |
Q15.8 |
| 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: |
Unknown [Orphanet] |
| Age of onset: |
Neonatal Infancy [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0000479) | Abnormality of the retina | Frequent [Orphanet] | 74 / 7739 | |||
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(HPO:0008056) | Aplasia/Hypoplasia affecting the eye | Occasional [Orphanet] | 142 / 7739 | |||
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(HPO:0004327) | Abnormality of the vitreous humor | Very frequent [Orphanet] | 14 / 7739 | |||
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0000612) | Iris coloboma | Frequent [Orphanet] | 116 / 7739 | |||
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(HPO:0000517) | Abnormality of the lens | Very frequent [Orphanet] | 12 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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