Ceroid Lipofuscinosis, Neuronal, 3 (CLN3)

Alias:
Batten Disease
Juvenile Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 3
Spielmeyer-Vogt Disease
Cln3 Disease
Cln3
Jncl
Classic Juvenile Neuronal Ceroid Lipofuscinosis
Spielmeyer-Sjogren Disease
Vogt-Spielmeyer Disease
Classic Juvenile Ncl
Cln3-Related Neuronal Ceroid-Lipofuscinosis
Neuronal Ceroid Lipofuscinosis, Juvenile
Lipofuscinosis, Ceroid, Neuronal, Type 3
Juvenile Cerebroretinal Degeneration
Batten-Spielmeyer-Vogt Disease
Juvenile Batten Disease
Batten-Mayou Disease
Juvenile Ncl
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ceroid Lipofuscinosis, Neuronal, 3, also known as batten disease, is related to ceroid lipofuscinosis, neuronal, 1 and peripheral retinal degeneration, and has symptoms including myoclonus, seizures and abnormality of extrapyramidal motor function. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 3 is CLN3 (CLN3 Lysosomal/Endosomal Transmembrane Protein, Battenin). The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include eye and heart, and related phenotypes are seizure and developmental regression
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
1-9/100000
28
173
85

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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