CATARACT 38
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5 CTRCT38 CATC5 |
| Number of Symptoms | 2 |
| OrphanetNr: | |
| OMIM Id: |
614691
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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:0000519) | Congenital cataract | 73 / 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 |
Aldahmesh et al. (2012) reported a sister and 2 brothers from a consanguineous Saudi family who were born with congenital cataract but had otherwise normal ophthalmologic and systemic examinations. Specifically, cardiac evaluation including electrocardiography and echocardiography showed no ... |
| Molecular genetics OMIM | In a consanguineous Saudi family with nonsyndromic congenital cataract mapping to chromosome 7q33-q36.1, Aldahmesh et al. (2012) performed exome sequencing and identified a homozygous splice site mutation in the AGK gene (610345.0010) that segregated with disease. |