Details of Disease

General Information of Disease (ID: DISTSA5L)

Disease Name Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Synonyms
MLC2B; megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation; megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Disease Hierarchy
DISK9A1M: Megalencephalic leukoencephalopathy with subcortical cysts
DISTSA5L: Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability
Disease Identifiers
MONDO ID
MONDO_0013491
UMLS CUI
C3151356
OMIM ID
613926
MedGen ID
462706

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HEPACAM OT1MJ51D Definitive Autosomal dominant [1]
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References

1 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.