Leukoencephalopathy, Brain Calcifications, and Cysts (LCC)

Alias:
Leukoencephalopathy with Calcifications and Cysts
Labrune Syndrome
Lcc
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leukoencephalopathy, Brain Calcifications, and Cysts, also known as leukoencephalopathy with calcifications and cysts, is related to cerebroretinal microangiopathy with calcifications and cysts 1 and hepatocellular carcinoma, and has symptoms including ataxia, hemiplegia and muscle spasticity. An important gene associated with Leukoencephalopathy, Brain Calcifications, and Cysts is SNORD118 (Small Nucleolar RNA, C/D Box 118). Affiliated tissues include brain and bone, and related phenotypes are cerebral calcification and leukoencephalopathy

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
2
9
11

Medical Symptom

#
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

Title
PMID
Journal
Year
IF
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