Details of Disease | DrugMAP

General Information of Disease (ID: DISGSXGX)

Disease Name	Neurodevelopmental disorder with speech impairment and with or without seizures
Disease Hierarchy	DIS372XH: Neurodevelopmental disorder DISGSXGX: Neurodevelopmental disorder with speech impairment and with or without seizures
Disease Identifiers	MONDO ID MONDO_0859313 UMLS CUI C5774252 OMIM ID 620114 MedGen ID 1824025

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
CACNA1I	TTQZFTH	Strong	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
CACNA1I	OTRH8X8A	Strong	Autosomal dominant	[1]
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References

1	CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders. Brain. 2021 Aug 17;144(7):2092-2106. doi: 10.1093/brain/awab101.