Preferred Label : Ceroid lipofuscinosis, neuronal, 2;
Symbol : CLN2;
CISMeF acronym : LINCL; CLN2;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 2, variable age at onset; Jansky-bielschowsky disease neuronal ceroid lipofuscinosis, late infantile; LINCL;
Description : 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).;
Inheritance : Autosomal recessive;
Molecular basis : Caused by mutation in the CLN2 gene (CLN2, 607998.0001);
Laboratory abnormalities : Lipopigment in extraneuronal cells; 'Curvilinear profiles' ultrastructurally;
Prefixed ID : #204500;
Origin ID : 204500;
UMLS CUI : C1876161;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
Genes related to phenotype
HPO term(s)
ORDO concept(s)
Semantic type(s)
UMLS correspondences (same concept)
Validated automatic mappings to BTNT