Log In|Sign Up
ENAdult Neuronal Ceroid Lipofuscinosis (ANCL)
Alias:
Kufs Disease
Adult Ncl
Ancl
加入收藏
Adult Neuronal Ceroid Lipofuscinosis, also known as kufs disease, is related to ceroid lipofuscinosis, neuronal, 6b and neuronal ceroid lipofuscinosis, and has symptoms including cerebellar ataxia, myoclonus and seizures. An important gene associated with Adult Neuronal Ceroid Lipofuscinosis is CLN6 (CLN6 Transmembrane ER Protein). Affiliated tissues include eye and cerebellum, and related phenotypes are myoclonus and seizure
Related ID：
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
Gene & Mutation
#
Gene
Function
Score
Mutations
Related Drugs
Name
CAS Number
Status
Phase
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
References Literature
Title
PMID
Journal
Year
IF
