Details of Disease | DrugMAP

General Information of Disease (ID: DISZNFLZ)

Disease Name	Familial primary hypomagnesemia with normocalciuria and normocalcemia
Definition	Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.
Disease Hierarchy	DISNS4MA: Familial primary hypomagnesemia with normocalcuria DISZNFLZ: Familial primary hypomagnesemia with normocalciuria and normocalcemia
Disease Identifiers	MONDO ID MONDO_0018101 UMLS CUI C4510731 MedGen ID 1390277 SNOMED CT ID 725031005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
EGF	TTED8JB	Supportive	Autosomal dominant	[1]
EGF	TTED8JB	Strong	GermlineCausalMutation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CNNM2	OTZHO8WU	Supportive	Autosomal dominant	[2]
EGF	OTANRJ0L	Supportive	Autosomal dominant	[1]
------------------------------------------------------------------------------------

References

1	Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. J Clin Invest. 2007 Aug;117(8):2260-7. doi: 10.1172/JCI31680.
2	CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia. Am J Hum Genet. 2011 Mar 11;88(3):333-43. doi: 10.1016/j.ajhg.2011.02.005.