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ENCeroid Lipofuscinosis, Neuronal, 10 (CLN10)
Alias:
Neuronal Ceroid Lipofuscinosis Due to Cathepsin D Deficiency
Neuronal Ceroid Lipofuscinosis 10
Cathepsin D Deficiency
Cln10
Congenital Neuronal Ceroid Lipofuscinosis
Cln10 Disease
Neuronal Ceroid Lipofuscinosis Cathepsin D-Deficient
Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient
Cathepsin D Deficient Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Congenital
Lipofuscinosis, Ceroid, Neuronal, Type 10
Congenital Ncl
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Ceroid Lipofuscinosis, Neuronal, 10, also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency, is related to lysosomal storage disease and peripheral retinal degeneration, and has symptoms including apnea, ataxia and muscle rigidity. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 10 is CTSD (Cathepsin D). Affiliated tissues include brain and cortex, and related phenotypes are intracellular accumulation of autofluorescent lipopigment storage material and vascular granular osmiophilic material deposition
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