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Juvenile cataract-microcornea-renal glucosuria syndrome(CJMG, FORMERLY; CTRCT47)

MedGen UID:: 934773
•Concept ID:: C4310806
•: Disease or Syndrome

Synonyms:	CATARACT 47; Cataract 47, juvenile, with microcornea; CATARACT, JUVENILE, WITH MICROCORNEA; Cataract, juvenile, with microcornea and glucosuria
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	SLC16A12 (10q23.31)

Monarch Initiative:	MONDO:0012786
OMIM®:	612018
Orphanet:	ORPHA247794

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. [from ORDO]

Clinical features

From HPO

Glycosuria

MedGen UID:: 42267
•Concept ID:: C0017979
•: Finding

An increased concentration of glucose in the urine.

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Cataract

MedGen UID:: 39462
•Concept ID:: C0086543
•: Disease or Syndrome

A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.

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Microcornea

MedGen UID:: 78610
•Concept ID:: C0266544
•: Congenital Abnormality

A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood.

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