Congenital cataract - ichthyosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
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| Number of Symptoms | 6 |
| OrphanetNr: | 1376 |
| OMIM Id: |
212400
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| ICD-10: |
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| UMLs: |
C1859315 |
| MeSH: |
C538281 |
| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Autosomal ichthyosis syndrome with other associated signs
-Rare genetic disease -Rare skin disease Dentocutaneous disease with cataract -Rare eye disease -Rare genetic disease Syndromic developmental defect of the eye -Rare developmental defect during embryogenesis -Rare eye disease -Rare genetic disease |
Symptom Information:
|
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(HPO:0000518) | Cataract | Very frequent [Orphanet] | 454 / 7739 | |||
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(HPO:0007431) | Congenital ichthyosiform erythroderma | 17 / 7739 | ||||
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(HPO:0001805) | Thick nail | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0008064) | Ichthyosis | Very frequent [Orphanet] | 108 / 7739 | |||
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(HPO:0004370) | Abnormality of temperature regulation | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Pinkerton (1958) described 2 Japanese brothers with cortical cataract and ichthyosis. The parents were not affected by either disorder and were not related. Jancke (1950) reported 3 sisters, 2 with cataract and ichthyosis and 1 with cataract and ... |