{"Name":"Juvenile cataract-microcornea-renal glucosuria syndrome","DiseaseID__c":"GARD:0017196","id":17196,"encodedName":"juvenile-cataract-microcornea-renal-glucosuria-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Juvenile cataract-microcornea-renal glucosuria syndrome","Xref_IDs__c":"722457005; C4310806; C567434; DOID:0070353; MEDGEN:934773; MONDO:0012786; OMIM:612018; ORPHA:247794","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0012786","Disease_Description__c":"A rare autosomal dominant association characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects.","GARD_Name__c":"Juvenile cataract-microcornea-renal glucosuria syndrome","GARD_Synonym__c":"cataract 47; cataract 47, juvenile, with microcornea; cataract, juvenile, with microcornea; juvenile cataract-microcornea-renal glycosuria syndrome","Curated_Disease_Description_Source__c":"ORPHA:247794","Curated_Disease_Description__c":"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.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:247794","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012786","ORPHANET_ID__c":"ORPHA:247794","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de catarata juvenil-microcórnea-glucosuria renal","Spanish_Description_Source__c":"ORPHA:247794","Spanish_Description__c":"La asociación catarata juvenil - microcórnea - glucosuria renal es una asociación autosómica dominante extremadamente poco frecuente descrita en una sola familia suiza, que se caracteriza clínicamente por catarata juvenil asociada con microcórnea bilateral y glucosuria renal sin otros defectos tubulares renales.","Spanish_Disease_Name__c":"síndrome de catarata juvenil-microcórnea-glucosuria renal","Spanish_GARD_Synonym__c":"síndrome de catarata juvenil-microcórnea-glicosuria renal","Category_Linearization__c":"ORPHA:68367","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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.","Curated_Disease_Description_Source__c":"ORPHA:247794","GARD_Synonym__c":"cataract 47; cataract 47, juvenile, with microcornea; cataract, juvenile, with microcornea; juvenile cataract-microcornea-renal glycosuria syndrome","Name":"Juvenile cataract-microcornea-renal glucosuria syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Nephrology","Tag_Category__c":"Account;Disease Category;Specialist","category_description":"Kidney diseases affect the kidneys' ability to remove waste and water from blood, create urine, or make certain hormones.","curated_tag_name":"Kidney diseases"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:247794"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/247794","Source__c":"C4310806; MONDO:0012786","Xref__c":"ORPHA:247794"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567434","Source__c":"MONDO:0012786","Xref__c":"C567434"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=934773","Source__c":"C4310806","Xref__c":"MEDGEN:934773"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=722457005","Source__c":"MONDO:0012786","Xref__c":"722457005"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4310806","Source__c":"C4310806","Xref__c":"C4310806"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070353","Source__c":"MONDO:0012786","Xref__c":"DOID:0070353"},{"URL__c":"https://www.omim.org/entry/612018","Source__c":"C4310806; MONDO:0012786; ORPHA:247794","Xref__c":"OMIM:612018"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012786","Source__c":"GARD:0017196","Xref__c":"MONDO:0012786"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC16A12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:612018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:612018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increased concentration of glucose in the urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003076","HPO_Synonym__c":"Glucose in urine; Glucosuria","HPO_Name__c":"Glycosuria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"OMIM:612018","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"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.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000482","HPO_Synonym__c":"Cornea of eye less than 10mm in diameter; Decreased corneal diameter","HPO_Name__c":"Microcornea","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Nephrology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Ophthalmology","Nephrology","Anterior segment of Eye","Pediatrics"],"Account":["Nephrology"]},"synonyms":["cataract 47"," cataract 47, juvenile, with microcornea"," cataract, juvenile, with microcornea"," juvenile cataract-microcornea-renal glycosuria syndrome"]}