Details of Disease | DrugMAP

General Information of Disease (ID: DISAK1QC)

Disease Name	Renal hypomagnesemia 2
Synonyms	autosomal dominant primary hypomagnesemia with hypocalciuria; magnesium wasting, renal; magnesium loss, isolated renal; hypomagnesemia 2, renal; isolated renal magnesium wasting; renal hypomagnesemia type 2; isolated autosomal dominant hypomagnesemia; FXYD2 primary hypomagnesemia; primary hypomagnesemia caused by mutation in FXYD2; HOMG2; familial primary hypomagnesemia caused by mutation in FXYD2; FXYD2 familial primary hypomagnesemia
Definition	Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a mild form of familial primary hypomagnesemia (FPH), characterized by extreme weakness, tetany and convulsions. Secondary disturbances in calcium excretion are observed.
Disease Hierarchy	DISABH4T: Familial primary hypomagnesemia with hypocalcuria DIS6TTKI: Familial primary hypomagnesemia DISAK1QC: Renal hypomagnesemia 2
Disease Identifiers	MONDO ID MONDO_0007937 MESH ID C537152 UMLS CUI C1835171 OMIM ID 154020 MedGen ID 320542 Orphanet ID 34528 SNOMED CT ID 725393000

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
TRPM6	TTV76RD	Strong	Altered Expression	[1]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXYD2	DEULQ45	Limited	Biomarker	[2]
FXYD2	DEULQ45	Strong	Autosomal dominant	[3]
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This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HNF1B	OTSYIC3T	Supportive	Autosomal dominant	[4]
CLDN19	OTVD6IBL	moderate	Genetic Variation	[5]
CLDN16	OTTHAIKR	Strong	Biomarker	[1]
FXYD2	OT97BX21	Strong	Autosomal dominant	[3]
PCBD1	OTDSRUD5	Strong	Genetic Variation	[6]
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References

1	Disorders of renal magnesium handling explain renal magnesium transport.J Nephrol. 2007 Sep-Oct;20(5):507-10.
2	Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.
3	Dominant isolated renal magnesium loss is caused by misrouting of the Na(+),K(+)-ATPase gamma-subunit. Nat Genet. 2000 Nov;26(3):265-6. doi: 10.1038/81543.
4	HNF1B mutations associate with hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2009 May;20(5):1123-31. doi: 10.1681/ASN.2008060633. Epub 2009 Apr 23.
5	Mutations in the tight-junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet. 2006 Nov;79(5):949-57. doi: 10.1086/508617. Epub 2006 Sep 19.
6	Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting. J Am Soc Nephrol. 2014 Mar;25(3):574-86.