/neuronal ceroid lipofuscinosis 1

neuronal ceroid lipofuscinosis 1

Rare Disease

MONDO:0009744

Also Known As

CLN1CLN1 diseaseCLN1 variable age at onsetPPT1 neuronal ceroid lipofuscinosisceroid lipofuscinosis neuronal 1ceroid lipofuscinosis, neuronal, 1ceroid lipofuscinosis, neuronal, 1, variable Age at onsetceroid lipofuscinosis, neuronal, type 1ceroid storage diseaseneuronal ceroid lipofuscinosis 1neuronal ceroid lipofuscinosis 1 variable age of onsetneuronal ceroid lipofuscinosis caused by mutation in PPT1neuronal ceroid lipofuscinosis type 1Santavuori diseaseSantavuori-Haltia diseaseadult CLN (type of CLN1)classic late infantile CLN (type of CLN1)infantile CLN (type of CLN1)infantile neuronal ceroid lipofuscinosisjuvenile CLN (type of CLN1)neuronal ceroid lipofuscinosis, infantilecongenital NCLcongenital neuronal ceroid lipofuscinosislipofuscin storage disease

Definition

A condition associated with mutation(s) in the PPT1 gene, encoding palmitoyl-protein thioesterase 1. The condition is one of a group of genetically heterogeneous neurodegenerative disorders, characterized by accumulation of intracellular lipopigments.