Ceroid Lipofuscinosis, Neuronal, 13 (CLN13)

Alias:
Neuronal Ceroid Lipofuscinosis 13
Cln13
Neuronal Ceroid Lipofuscinosis 13 Kufs Type
Cln13 Disease
Lipofuscinosis, Ceroid, Neuronal, Type 13
Favorite
Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Ceroid Lipofuscinosis, Neuronal, 13, also known as neuronal ceroid lipofuscinosis 13, is related to gangliosidosis and ceroid lipofuscinosis, neuronal, 6a, and has symptoms including ataxia, myoclonus and seizures. An important gene associated with Ceroid Lipofuscinosis, Neuronal, 13 is CTSF (Cathepsin F). Affiliated tissues include eye and skin, and related phenotypes are mental deterioration and dementia
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Adult
<1/1000000
8
46
5

Medical Symptom

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

Gene & Mutation

#
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

Title
PMID
Journal
Year
IF
No Data Found!
Wechat
Comparison
Al agent
Tutorials
Back to top