Preferred Label : Ceroid lipofuscinosis, neuronal, 6b (kufs type);
Symbol : CLN6B;
CISMeF acronym : CLN4A;
Type : Phenotype, molecular basis known;
Description : Adult-onset neuronal ceroid lipofuscinosis, also known as Kufs disease, is a neurodegenerative
disorder without retinal involvement. There are 2 overlapping phenotypes: type A,
characterized by progressive myoclonic epilepsy, and type B, characterized by dementia
and a variety of motor-system signs (summary by Arsov et al., 2011). In general, 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 ultrastructural pattern of lipopigment in CLN4 comprises
a mixed pattern of 'granular,' 'curvilinear,' and 'fingerprint' 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 CLN6 transmembrane ER protein gene (606725.0011);
Laboratory abnormalities : Granular osmiophilic deposits (GROD) in cells resulting in 'Rectilinear' profiles
ultrastructurally; Granular osmiophilic deposits (GROD) in cells resulting in 'curvilinear' profiles
ultrastructurally; Granular osmiophilic deposits (GROD) in cells resulting in 'fingerprint' profiles
ultrastructurally;
Prefixed ID : #204300;
Origin ID : 204300;
UMLS CUI : C5561927;
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)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
