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juvenile cataract-microcornea-renal glucosuria syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.
Uniprot Description A form of cataract, an opacification of the crystalline lens of the eye that frequently results in visual impairment or blindness. Opacities vary in morphology, are often confined to a portion of the lens, and may be static or progressive. In general, the more posteriorly located and dense an opacity, the greater the impact on visual function. CTRCT47 is characterized by the association of cataract with microcornea and renal glucosuria. Microcornea is defined by a corneal diameter inferior to 10 mm in both meridians in an otherwise normal eye. Renal glucosuria is defined by elevated glucose level in the urine without hyperglycemia and without evidence of morphological renal anomalies.
Mondo Term and Equivalent IDs
MONDO:0012786:  juvenile cataract-microcornea-renal glucosuria syndrome
DOID:0070353: 
MESH:C567434: 
Orphanet:247794: 
SCTID:722457005: 
UMLS:C2677587: