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GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 2

Neuronal ceroid lipofuscinosis 2

Synonyms
CLN2 Disease; JANSKY-BIELSCHOWSKY DISEASE NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE; TPP1-Related Neuronal Ceroid-Lipofuscinosis
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. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Available tests

87 tests are in the database for this condition.

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Clinical tests (87 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CLN2, GIG1, LPIC, SCAR7, TPP-1, TPP1
    Summary: tripeptidyl peptidase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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