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GTR Home > Conditions/Phenotypes > Neuronal ceroid lipofuscinosis 3

Neuronal ceroid lipofuscinosis 3

Synonyms
CLN3 Disease; CLN3-Related Neuronal Ceroid-Lipofuscinosis; Spielmeyer Sjogren disease
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). The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005). For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (256730). [from OMIM]

Available tests

106 tests are in the database for this condition.

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Clinical tests (106 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BTN1, BTS, JNCL, CLN3
    Summary: CLN3 lysosomal/endosomal transmembrane protein, battenin

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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