Clcn2-Related Leukoencephalopathy (LKPAT)

Alias:
Leukoencephalopathy with Mild Cerebellar Ataxia and White Matter Edema
Leukoencephalopathy with Ataxia
Leukoencephalopathy with White Matter Edema
Lkpat
Cc2l
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Clcn2-Related Leukoencephalopathy, also known as leukoencephalopathy with mild cerebellar ataxia and white matter edema, is related to leukoencephalopathy with ataxia and tremor, and has symptoms including headache and gait ataxia. An important gene associated with Clcn2-Related Leukoencephalopathy is CLCN2 (Chloride Voltage-Gated Channel 2). Affiliated tissues include brain and testis.
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
All ages
<1/1000000
1
10
35

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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