Details of Disease

General Information of Disease (ID: DISZZVT4)

Disease Name Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Synonyms NDMSCA; neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Disease Hierarchy
DISYOKTG: Mendelian neurodevelopmental disorder
DISZZVT4: Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
Disease Identifiers
MONDO ID
MONDO_0060621
UMLS CUI
C4540493
OMIM ID
617802
MedGen ID
1615361

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
VARS1 OTB1MIVR Definitive Autosomal recessive [1]
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This Disease Is Related to 2 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
VARS1 DEUPF5K Strong Biomarker [2]
VARS1 DEUPF5K Definitive Autosomal recessive [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.
2 CheMBL Affinity Phenotypic Cellular Interaction Assay ID: CHEMBL1125976