Details of Disease

General Information of Disease (ID: DISZ907R)

Disease Name Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Synonyms LKPAT; leukoencephalopathy with ataxia
Disease Hierarchy
DISVY1TT: Leukodystrophy
DISZ907R: Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Disease Identifiers
MONDO ID
MONDO_0014292
UMLS CUI
C4554120
OMIM ID
615651
MedGen ID
1638681
Orphanet ID
363540
SNOMED CT ID
768663003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CLCN2 TT30NW6 Strong Genetic Variation [1]
CLCN2 TT30NW6 Definitive Autosomal recessive [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CLCN2 OTBUHK0B Definitive Autosomal recessive [2]
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References

1 A novel homozygous mutation of CLCN2 in a patient with characteristic brain MRI images - A first case of CLCN2-related leukoencephalopathy in Japan.Brain Dev. 2019 Jan;41(1):101-105. doi: 10.1016/j.braindev.2018.07.011. Epub 2018 Aug 1.
2 Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol. 2013 Jul;12(7):659-68. doi: 10.1016/S1474-4422(13)70053-X. Epub 2013 May 22.