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About: Griscelli syndrome     Goto   Sponge   NotDistinct   Permalink

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

Type: ThingFuchs' dystrophyyago:WikicatAutosomalRecessiveDisordersyago:WikicatNoninfectiousImmunodeficiency-relatedCutaneousConditionsyago:Abstraction100002137yago:Act100030358yago:Activity100407535yago:Attribute100024264yago:Cognition100023271yago:Complex105870365yago:Concept105835747yago:Condition113920835yago:Content105809192yago:Disease114070360yago:Disorder114052403yago:Event100029378yago:GeneticDisease114151139yago:Idea105833840yago:IllHealth114052046yago:Illness114061805yago:PathologicalState114051917yago:Perturbation107428450yago:PhysicalCondition114034177yago:PsychologicalFeature100023100yago:WikicatInheritedDisordersOfTraffickingyago:YagoPermanentlyLocatedEntitydiseaseyago:State100024720yago:Syndrome105870790yago:Whole105869584yago:WikicatDisturbancesOfHumanPigmentationyago:WikicatSyndromesumbel-rc:AilmentCondition New Facet based on Instances of this Class

Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism (hypopigmentation) with immunodeficiency, that usually causes death by early childhood. Researchers have developed three different classifications of the form of disorder, characterised by different signs and symptoms. Type 1 Griscelli Syndrome is assosciated with severe brain function issues along with distinctive discolouring of the hair and skin. Type 2 Griscelli Syndrome have immune system abnormalities in addition to hypopigmentation of skin and hair. Finally, Type 3 is seen as those only affected by hypopigmentation of the skin and hair. This type is not associated with immune deficiencies or neurological abnormalities.