Details of Disease | DrugMAP

General Information of Disease (ID: DIS420W8)

Disease Name	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Synonyms	CASGID; INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT; infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Disease Hierarchy	DISYKSRF: Genetic disease DIS420W8: Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development
Disease Identifiers	MONDO ID MONDO_0032685 UMLS CUI C5193037 OMIM ID 618339 MedGen ID 1673640

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	Moderate	Autosomal dominant	[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	Moderate	Autosomal dominant	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.