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Herb Integrative Database
Traditional Medicine Data Platform
Diseases

Neuronal Ceroid-Lipofuscinoses

neuronal ceroid-lipofuscinoses

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Entity Type
Diseases
Relation Groups
3
Relation Preview
24

Basic Information

Grouped by core information, identifiers, and descriptions.

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Core Information

Disease Name
Neuronal Ceroid-Lipofuscinoses
Standard Disease Name
neuronal ceroid-lipofuscinoses
MeSH Tree
No data
ICD-10
E75.4

Identifiers

DO ID
No data
MeSH ID
D009472
OMIM ID
214200
UMLS ID
C0027877
HPO ID
No data

Description and Extensions

Description
NCI2016_02D:A group of mostly autosomal recessive inherited neurodegenerative disorders characterized by accumulation of lipofuscin in the neuronal cells and in other tissues including liver, spleen, kidneys, and myocardium. Signs and symptoms include motor disturbances and cognitive decline.|MSH2017_2016_08_12:A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure.|CSP2006:inherited degenerative disease characterized by neuronal cytoplasmic inclusions which stain positively for ceroid and lipofuscin.