Preferred Label : Dementia, lewy body;
Symbol : DLB;
CISMeF acronym : DLB;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Lewy body dementia; Diffuse lewy body disease;
Included titles and symbols : Diffuse lewy body disease with gaze palsy; Lewy body variant of alzheimer disease;
Description : Dementia with Lewy bodies (DLB) is a neurodegenerative disorder clinically characterized
by dementia and parkinsonism, often with fluctuating cognitive function, visual hallucinations,
falls, syncopal episodes, and sensitivity to neuroleptic medication. Pathologically,
Lewy bodies are present in a pattern more widespread than usually observed in Parkinson
disease (see PD; 168600). Alzheimer disease (AD; 104300)-associated pathology and
spongiform changes may also be seen (McKeith et al., 1996; Mizutani, 2000; McKeith
et al., 2005).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the alpha-synuclein gene (SNCA, 163890.0004); Caused by mutation in the beta-synuclein gene (SNCB, 602569.0001);
Prefixed ID : #127750;
Origin ID : 127750;
UMLS CUI : C0752347;
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)