Cataract-microcornea syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
|
| Number of Symptoms | 11 |
| OrphanetNr: | 1377 |
| OMIM Id: |
116200
601547 604219 |
| ICD-10: |
Q13.8 |
| UMLs: |
C1861829 |
| MeSH: |
C538287 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | 8 families [Orphanet] |
| Inheritance: |
Autosomal dominant Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Nonsyndromic developmental defect of the eye
-Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease Syndromic cataract -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000612) | Iris coloboma | Occasional [Orphanet] | 116 / 7739 | |||
|
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(HPO:0000639) | Nystagmus | Occasional [Orphanet] | 555 / 7739 | |||
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
|
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(HPO:0100018) | Nuclear cataract | 14 / 7739 | ||||
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(HPO:0000481) | Abnormality of the cornea | Occasional [Orphanet] | 124 / 7739 | |||
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(HPO:0000545) | Myopia | Frequent [Orphanet] | 286 / 7739 | |||
|
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(HPO:0000482) | Microcornea | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0010693) | Pulverulent cataract | 6 / 7739 | ||||
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(HPO:0000519) | Congenital cataract | 73 / 7739 | ||||
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(HPO:0001131) | Corneal dystrophy | Occasional [Orphanet] | 56 / 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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