Details of Disease | DrugMAP

General Information of Disease (ID: DISVG47Q)

Disease Name	Congenital brain dysgenesis due to glutamine synthetase deficiency
Synonyms	glutamine synthase deficiency, congenital systemic; glutamine deficiency, congenital; glutamine synthetase deficiency, congenital systemic; congenital glutamine deficiency; inherited glutamine synthetase deficiency; inherited GS deficiency; congenital brain dysgenesis due to glutamine synthetase deficiency
Disease Hierarchy	DISDA8LT: Disorder of glutamine metabolism DISVG47Q: Congenital brain dysgenesis due to glutamine synthetase deficiency
Disease Identifiers	MONDO ID MONDO_0012393 MESH ID C536832 UMLS CUI C1864910 OMIM ID 610015 MedGen ID 400638 Orphanet ID 71278

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GLUL	TTURQ2G	Limited	Biomarker	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLUL	DE5UC73	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
GLUL	OTYGTCGF	Definitive	Autosomal recessive	[2]
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References

1	A Very Rare Etiology of Hypotonia and Seizures: Congenital Glutamine Synthetase Deficiency.Neuropediatrics. 2019 Feb;50(1):51-53. doi: 10.1055/s-0038-1675637. Epub 2018 Nov 15.
2	Natural course of glutamine synthetase deficiency in a 3 year old patient. Mol Genet Metab. 2011 May;103(1):89-91. doi: 10.1016/j.ymgme.2011.02.001. Epub 2011 Feb 4.