Juvenile cataract - microcornea - renal glucosuria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CJMG |
| Number of Symptoms | 4 |
| OrphanetNr: | 247794 |
| OMIM Id: |
612018
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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 dominant [Orphanet] |
| Age of onset: |
Childhood [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Disorder of carbohydrate absorption and transport
-Rare genetic disease Nephropathy secondary to a storage or other metabolic disease -Rare genetic disease -Rare renal disease Syndromic cataract -Rare eye disease -Rare genetic disease |
Symptom Information:
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(HPO:0003076) | Glycosuria | 18304496 | IBIS | 32 / 7739 | ||
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(HPO:0000518) | Cataract | 18304496 | IBIS | 454 / 7739 | ||
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(HPO:0000482) | Microcornea | 18304496 | IBIS | 102 / 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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Additional Information:
| Clinical Description OMIM |
Vandekerckhove et al. (2007) described a Swiss family in which 11 of 17 living family members in 3 generations underwent ophthalmic assessment and urine analysis. Eleven members had progressive juvenile cataract. Eight members available for clinical examination had ... |
| Molecular genetics OMIM |
In a Swiss family with juvenile cataract with microcornea and renal glucosuria, Kloeckener-Gruissem et al. (2008) demonstrated heterozygosity for a nonsense mutation in the SLC16A12 gene (611910.0001). They showed that SLC16A12 has high expression in the eye and ... |