Details of Disease | DrugMAP

General Information of Disease (ID: DISX3DXD)

Disease Name	Hypomagnesemia, seizures, and intellectual disability 2
Synonyms	HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2; HOMGSMR2
Disease Hierarchy	DISZKQGN: Hypomagnesemia, seizures, and intellectual disability DISX3DXD: Hypomagnesemia, seizures, and intellectual disability 2
Disease Identifiers	MONDO ID MONDO_0020788 UMLS CUI C5193023 OMIM ID 618314 MedGen ID 1675904

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
ATP1A1	TTWK8D0	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ATP1A1	OTCJ458Q	Strong	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability. Am J Hum Genet. 2018 Nov 1;103(5):808-816. doi: 10.1016/j.ajhg.2018.10.004.