Details of Disease

General Information of Disease (ID: DISYZY5W)

Disease Name Juvenile cataract-microcornea-renal glucosuria syndrome
Synonyms
cataract, juvenile, with microcornea and glucosuria; CJMG; cataract 47; cataract, juvenile, with microcornea; cataract, juvenile, with microcornea and glucosuria, formerly; CTRCT47; juvenile cataract-microcornea-renal glucosuria syndrome; cataract 47, juvenile, with microcornea
Definition
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.
Disease Hierarchy
DIS6ZIDS: Disorder of carbohydrate transmembrane transport and absorption
DIS3HIWD: Autosomal dominant disease
DISYZY5W: Juvenile cataract-microcornea-renal glucosuria syndrome
Disease Identifiers
MONDO ID
MONDO_0012786
UMLS CUI
C4310806
OMIM ID
612018
MedGen ID
934773
Orphanet ID
247794

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTP Molecule(s)
Gene Name DTP ID Evidence Level Mode of Inheritance REF
SLC16A12 DTZOKFJ Disputed Biomarker [1]
SLC16A12 DTZOKFJ Strong Autosomal dominant [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SLC16A12 OTZ63YNA Strong Autosomal dominant [2]
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References

1 Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.Invest Ophthalmol Vis Sci. 2010 Jul;51(7):3354-61. doi: 10.1167/iovs.10-5193. Epub 2010 Feb 24.
2 Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria. Am J Hum Genet. 2008 Mar;82(3):772-9. doi: 10.1016/j.ajhg.2007.12.013. Epub 2008 Feb 14.