Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCataract (D002386)
Parent Node:
expandGlycosuria, Renal (D006030)
..Starting node
..expandCataract, Juvenile, With Microcornea And Glucosuria (C567434)

       Child Nodes:



 Sister Nodes: 
..expandCataract, Juvenile, With Microcornea And Glucosuria (C567434)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:1845
Name:Cataract, Juvenile, With Microcornea And Glucosuria
Definition:
Alternative IDs:OMIM:612018
ParentIDs:MESH:D002386|MESH:D006030
TreeNumbers:C11.510.245/C567434 |C12.777.419.815.532/C567434 |C12.777.934.363.450/C567434 |C13.351.968.419.815.532/C567434 |C13.351.968.934.363.450/C567434 |C16.320.565.861.532/C567434 |C18.452.394.937.450/C567434 |C18.452.648.861.532/C567434
Synonyms:CJMG
Slim Mappings:Eye disease|Genetic disease (inborn)|Metabolic disease|Urogenital disease (female)|Urogenital disease (male)
Reference: MedGen: C567434
MeSH: C567434
OMIM: 612018;

Genes: SLC16A12;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000518Cataract
3 HP:0003076Glycosuria
4 HP:0000482Microcornea
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVarDisease_hgmd
NM_213606.3(SLC16A12):c.733C>T (p.Gln245Ter)387700SLC16A12Pathogenic121909386RCV000000820; NMedGen:C2677587,OMIM:612018,ORPHA:247794109119865691198656NM_213606.3:c.733C>TNP_998771.3:p.Gln245TerNC_000010.10:g.91198656G>AOMIM Allelic Variant:611910.0001C2677587 612018 Cataract, juvenile, with microcornea and glucosuria