Details of Disease | DrugMAP

General Information of Disease (ID: DISOAE2X)

Disease Name	Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Synonyms	microcephaly, progressive, with seizures and cerebral and cerebellar atrophy; MSCCA; microcephaly, progressive, seizures, and cerebral and cerebellar atrophy; diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISPN7D2: Inherited neurodegenerative disorder DISOAE2X: Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Disease Identifiers	MONDO ID MONDO_0014335 UMLS CUI C4014239 OMIM ID 615760 MedGen ID 862676 Orphanet ID 404437

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
QARS1	DEVSTRI	moderate	Genetic Variation	[1]
QARS1	DEVSTRI	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
QARS1	OT2GJ7XZ	Definitive	Autosomal recessive	[2]
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References

1	The crystal structure of human GlnRS provides basis for the development of neurological disorders.Nucleic Acids Res. 2016 Apr 20;44(7):3420-31. doi: 10.1093/nar/gkw082. Epub 2016 Feb 10.
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.