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GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 10

Neuronal ceroid lipofuscinosis 10

Synonyms
CLN10 Disease; CTSD-Related Neuronal Ceroid-Lipofuscinosis; Ceroid lipofuscinosis neuronal Cathepsin D-deficient; Neuronal ceroid lipofuscinosis due to Cathepsin D deficiency
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005). For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (256730). [from OMIM]

Available tests

67 tests are in the database for this condition.

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Clinical tests (67 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN10, CPSD, HEL-S-130P, CTSD
    Summary: cathepsin D

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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