Preferred Label : Ceroid lipofuscinosis, neuronal, 4 (kufs type);
Symbol : CLN4;
CISMeF acronym : CLN4B;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Ceroid lipofuscinosis, neuronal, parry type;
Description : The neuronal ceroid lipofuscinoses are a group of progressive neurodegenerative diseases
characterized by accumulation of intracellular autofluorescent lipopigment storage
material in the brain and other tissues. Several different forms have been described
according to age of onset (see, e.g., CLN3, 204200). An adult form, sometimes referred
to as Kufs disease, is distinguished clinically by onset of symptoms in adulthood
and by absence of ocular involvement. For a general phenotypic description and a discussion
of genetic heterogeneity of CLN, see CLN1 (256730).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the DNAJ/HSP40 homolog, subfamily C, member 5 gene (DNAJC5,
611203.0001);
Laboratory abnormalities : 'Curvilinear' profiles ultrastructurally; 'Rectilinear' profiles ultrastructurally; Granular osmiophilic deposits (GROD) in cells; 'Fingerprint' profiles ultrastructurally;
Prefixed ID : #162350;
Origin ID : 162350;
UMLS CUI : C1834207;
Automatic exact mappings (from CISMeF team)
Broader ORDO disease(s)
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 NTBT