Preferred Label : Ceroid lipofuscinosis, neuronal, 5;
Symbol : CLN5;
CISMeF acronym : CLN5;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, 5, variable age at onset;
Included titles and symbols : Neuronal ceroid lipofuscinosis, late infantile, finnish variant; Finnish vlincl;
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 lipopigment patterns observed most often in CLN5 comprise mixed combinations of
'granular,' 'curvilinear,' and 'fingerprint' profiles. The clinical course includes
progressive dementia, seizures, and progressive visual failure (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 CLN5 intracellular trafficking protein gene (CLN5, 608102.0001);
Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Fingerprint' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally;
Prefixed ID : #256731;
Origin ID : 256731;
UMLS CUI : C1850442;
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)