Details of Disease | DrugMAP

General Information of Disease (ID: DIS59XM6)

Disease Name	Global developmental delay, progressive ataxia, and elevated glutamine
Synonyms	Glutaminase Deficiency With Impaired Intellectual Development and Progressive Ataxia; GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE; GDPAG
Disease Hierarchy	DISYKSRF: Genetic disease DIS59XM6: Global developmental delay, progressive ataxia, and elevated glutamine
Disease Identifiers	MONDO ID MONDO_0032733 UMLS CUI C5193080 OMIM ID 618412 MedGen ID 1680160

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
GLS	DE3E0VT	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLS	OTGOZG2M	Strong	Autosomal recessive	[1]
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References

1	Genetics of intellectual disability in consanguineous families. Mol Psychiatry. 2019 Jul;24(7):1027-1039. doi: 10.1038/s41380-017-0012-2. Epub 2018 Jan 4.