CATARACT 35
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 1 CATCN1 CTRCT35 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
609376
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| ICD-10: |
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| 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 recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0000518) | Cataract | 454 / 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 |
Riazuddin et al. (2005) described a 4-generation consanguineous family (family 60023) with autosomal recessive nonsyndromic congenital nuclear cataract from a remote village in the Punjab province of Pakistan. Bilateral nuclear cataracts were either present at birth or developed ... |