Details of Disease

General Information of Disease (ID: DIS9VTJD)

Disease Name Megalencephalic leukoencephalopathy with subcortical cysts 1
Synonyms
Lvm; VL; Van Der Knaap disease; Vacuolating megalencephalic leukoencephalopathy with subcortical cysts; leukoencephalopathy with swelling and cysts; MLC1; megalencephalic leukoencephalopathy with subcortical cysts; megalencephalic leukoencephalopathy with subcortical cysts 1
Disease Hierarchy
DISK9A1M: Megalencephalic leukoencephalopathy with subcortical cysts
DIS9VTJD: Megalencephalic leukoencephalopathy with subcortical cysts 1
Disease Identifiers
MONDO ID
MONDO_0024555
UMLS CUI
C5779875
OMIM ID
604004
MedGen ID
1826136

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
GPRC5B OTF3S5E3 Strong Autosomal dominant [1]
MLC1 OTCNZLSP Definitive Autosomal recessive [2]
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References

1 Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema. Brain. 2023 Aug 1;146(8):3444-3454. doi: 10.1093/brain/awad146.
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.