Ceroid Lipofuscinosis, Neuronal, 11 (CLN11)

Alias:
Neuronal Ceroid Lipofuscinosis 11
Cln11
Cln11 Disease
Grn-Related Neuronal Ceroid-Lipofuscinosis
Lipofuscinosis, Ceroid, Neuronal, Type 11
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ceroid Lipofuscinosis, Neuronal, 11, also known as neuronal ceroid lipofuscinosis 11, is related to ceroid lipofuscinosis, neuronal, 1 and grn-related frontotemporal lobar degeneration, and has symptoms including ataxia, seizures and myoclonic seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 11 is GRN (Granulin Precursor), and among its related pathways/superpathways is Hepatic ABC Transporters. Affiliated tissues include eye and retina, and related phenotypes are seizure and ataxia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
21
157
63

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

Name
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
Journal
Year
IF
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