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renal coloboma syndrome

Disease Summary
Associated Targets (1)
Tbio

1


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Mondo Description Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.
Uniprot Description An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.
Disease Ontology Description An autosomal dominant disease characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24.
Mondo Term and Equivalent IDs
MONDO:0007352:  renal coloboma syndrome
GARD:0004106: 
MESH:C537168: 
NCIT:C123230: 
Orphanet:1475: 
SCTID:446449009: 
UMLS:C1852759: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)