Details of Disease | DrugMAP

General Information of Disease (ID: DISATWAP)

Disease Name	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Synonyms	ASNSD; Asns deficiency; asparagine synthetase deficiency; congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISO5FAY: Inborn error of metabolism DISATWAP: Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
Disease Identifiers	MONDO ID MONDO_0014258 UMLS CUI C3809971 OMIM ID 615574 MedGen ID 816301 Orphanet ID 391376 SNOMED CT ID 782757004

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
ASNS	DEXISVQ	Definitive	Autosomal recessive	[1]
ASNS	DEXISVQ	Definitive	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASNS	OT8R922G	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	Effect of inbreeding on intellectual disability revisited by trio sequencing. Clin Genet. 2019 Jan;95(1):151-159. doi: 10.1111/cge.13463. Epub 2018 Nov 19.