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About: Norrie disease     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : umbel-rc:AilmentCondition, within Data Space : dbpedia.demo.openlinksw.com associated with source document(s)

Type: ThingDiseaseyago:WikicatCongenitalDisordersOfEyesyago:WikicatX-linkedRecessiveDisordersyago:Abnormality114501726yago:Abstraction100002137yago:Anomaly114505821yago:Attribute100024264yago:BirthDefect114465048yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Defect114464005yago:Disease114070360yago:Disorder114052403yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:Imperfection114462666yago:PathologicalState114051917yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatGeneticDisordersdiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatSyndromesumbel-rc:AilmentCondition New Facet based on Instances of this Class

Norrie disease is a rare disease and genetic disorder that primarily affects the eyes and almost always leads to blindness. It is caused by mutations in the Norrin cystine knot growth factor (NDP) gene, which is located on the X chromosome. In addition to the congenital ocular symptoms, the majority of patients experience a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties among other additional characteristics.