Details of Disease

General Information of Disease (ID: DISK3ULI)

Disease Name Megalencephalic leukoencephalopathy with subcortical cysts 2A
Synonyms MLC2A; megalencephalic leukoencephalopathy with subcortical cysts type 2A; megalencephalic leukoencephalopathy with subcortical cysts 2A
Disease Hierarchy
DISK9A1M: Megalencephalic leukoencephalopathy with subcortical cysts
DISK3ULI: Megalencephalic leukoencephalopathy with subcortical cysts 2A
Disease Identifiers
MONDO ID
MONDO_0013490
UMLS CUI
C3151355
OMIM ID
613925
MedGen ID
462705

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
MYL7 OT7ZNDP4 Strong Genetic Variation [1]
HEPACAM OT1MJ51D Definitive Autosomal recessive [2]
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References

1 Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models.World J Pediatr. 2019 Oct;15(5):454-464. doi: 10.1007/s12519-019-00284-w. Epub 2019 Aug 1.
2 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.