Neuronal Ceroid Lipofuscinosis (NCL)

Alias:
Hereditary Ceroid Lipofuscinosis
Neuronal Ceroid-Lipofuscinoses
Ncl
Pigmentary Retinal Lipoid Neuronal Heredodegeneration
Juvenile Neuronal Ceroid Lipofuscinosis
Ncl - [neuronal Ceroid Lipofuscinosis]
Lipofuscinosis, Ceroid, Neuronal
Cerebromacular Degeneration
Amaurotic Familial Idiocy
Cerebromacular Dystrophy
Neuronal Lipofuscinosis
Ceroid-Lipofuscinosis
Amaurotic Idiocy
Amaurotic Idiot
Batten Disease
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Neuronal Ceroid Lipofuscinosis, also known as hereditary ceroid lipofuscinosis, is related to ceroid lipofuscinosis, neuronal, 3 and ceroid lipofuscinosis, neuronal, 10, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Neuronal Ceroid Lipofuscinosis is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin). The drugs Cysteamine and Acetylcysteine have been mentioned in the context of this disorder. Affiliated tissues include retina and brain, and related phenotypes are nervous system and homeostasis/metabolism
Related ID:
MESH:D009472
ICD11:1568332253

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
AD
All ages
1-9/100000
128
1241
230

Medical Symptom

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Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Related Drugs

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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