DISEASES

Disease-gene associations mined from literature

Human genes for neuronal ceroid lipofuscinosis

Neuronal ceroid lipofuscinosis [DOID:14503]

Neuronal Ceroid Lipofuscinoses (NCL) is the general name for a family of at least eight genetically separate neurodegenerative disorders that result from excessive accumulation of lipopigments (lipofuscin) in the body's tissues. These lipopigments are made up of fats and proteins. Their name comes from the word stem lipo-, which is a variation on "lipid" or "fat", and from the term pigment, used because the substances take on a greenish-yellow color when viewed under an ultraviolet light microscope. These lipofuscin materials build up in neuronal cells and many organs, including the liver, spleen, myocardium, and kidneys.

Synonyms:  neuronal ceroid lipofuscinosis,  DOID:14503,  hereditary ceroid lipofuscinosis,  neuronal ceroid lipofuscinosis (disorder),  neuronal ceroid lipofuscinosis disorder ...

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