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]
------------------------------------------------------------------------------------
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]
------------------------------------------------------------------------------------

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 Loss of function mutations in VARS encoding cytoplasmic valyl-tRNA synthetase cause microcephaly, seizures, and progressive cerebral atrophy.Hum Genet. 2018 Apr;137(4):293-303. doi: 10.1007/s00439-018-1882-3. Epub 2018 Apr 24.