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GENATLAS PHENOTYPE

last update : 26-10-2018

Symbol	CJMG
Location	10q23.31
Name	juvenile cataract, microcornea and renal glycosuria
Other name(s)	cataract vith multiple form 47
Corresponding gene	SLC16A12
Other symbol(s)	CTRCT47
Main clinical features	cataract is accompanied by additional symptoms, among them microcornea associated with microcornea and renal glucosuria with characteristic elevation of glucose concentration in the urine, without evidence of other renal tubular defects
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)

abnormal creatine transport of mutations in monocarboxylate transporter 12 (SLC16A12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147 (PMID: 29088427))