Ceroid Lipofuscinosis, Neuronal, 4 (CLN4)

Alias:
Cln4b Disease
Ceroid Lipofuscinosis, Neuronal, Parry Type
Adult Neuronal Ceroid Lipofuscinosis
Neuronal Ceroid Lipofuscinosis 4
Cln4b
Ceroid Lipofuscinosis, Neuronal, 4b , Autosomal Dominant
Ceroid Lipofuscinosis, Neuronal, 4 , Autosomal Dominant
Ceroid Lipofuscinosis, Neuronal, 4b, Autosomal Dominant
Autosomal Dominant Neuronal Ceroid Lipofuscinosis 4b
Lipofuscinosis, Ceroid, Neuronal, Type 4, Parry Type
Ceroid Lipofuscinosis, Neuronal, 4, Parry Type
Neuronal Ceroid Lipofuscinosis 4 Parry Type
Neuronal Ceroid Lipofuscinosis Parry Type
Neuronal Ceroid Lipofuscinosis 4b
Kufs Disease Autosomal Dominant
Parry Disease
Cln4 Disease
Cln4
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ceroid Lipofuscinosis, Neuronal, 4, also known as cln4b disease, is related to ceroid lipofuscinosis, neuronal, 1 and adult neuronal ceroid lipofuscinosis, and has symptoms including cerebellar ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 4 is DNAJC5 (DnaJ Heat Shock Protein Family (Hsp40) Member C5). Affiliated tissues include eye and brain, and related phenotypes are depression and bilateral tonic-clonic seizure
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Adult
--
4
21
14

Medical Symptom

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

Gene & Mutation

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Mutations
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Related Drugs

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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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