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GENATLAS PHENOTYPE

last update : 07-12-2018

Symbol	HOMGSMR2
Location	1p13.1
Name	hypomagnesemia, seizures, and mental retardation 2
Corresponding gene	ATP1A1
Main clinical features	hypomagnesemia, refractory seizures, and severe intellectual disability hypomagnesemia is caused by massive renal Mg2+ wasting, and affected individuals exhibited repeated episodes with significant hypokalemia (S-K+ of 2.1 to 2.6 mmol/L) persistent seizures and significant intellectual disability initial renal ultrasound examinations indicated medullary hyperechogenicity compatible with incipient nephrocalcinosis in any cases
Genetic determination	not applicable
Function/system disorder	kidney and urinary tract
	metabolism/phosphocalcique
	mental retardation
Type	disease

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