Details of Disease | DrugMAP

General Information of Disease (ID: DIS9K58C)

Disease Name	Renal hypomagnesemia 3
Synonyms	hypomagnesemia, isolated renal; hypercalciuria, childhood, self-limiting; hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium; hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included; hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis; magnesium, defect in renal tubular transport of; hypomagnesemia 3, renal; hypomagnesemia, primary, due to defect in renal tubular Transport of magnesium; primary hypomagnesemia caused by mutation in CLDN16; FHHNC without severe ocular involvement; primary hypomagnesemia due to defect in renal tubular transport of magnesium; familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement; CLDN16 familial primary hypomagnesemia; familial primary hypomagnesemia caused by mutation in CLDN16; CLDN16 primary hypomagnesemia; isolated renal hypomagnesemia; HOMG3; renal hypomagnesemia type 3
Definition	Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
Disease Hierarchy	DIS6TTKI: Familial primary hypomagnesemia DISBGF8S: Renal tubular transport disease DIS5ZVJP: Nephrocalcinosis DIS8KHST: Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis DIS9K58C: Renal hypomagnesemia 3
Disease Identifiers	MONDO ID MONDO_0009550 MESH ID C537153 UMLS CUI C0268448 OMIM ID 248250 MedGen ID 120640 Orphanet ID 31043 SNOMED CT ID 80710001

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	Genetic Variation	[1]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
FXYD2	DEULQ45	Strong	Biomarker	[2]
------------------------------------------------------------------------------------

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CLDN16	OTTHAIKR	Strong	Autosomal recessive	[3]
------------------------------------------------------------------------------------

References

1	Long-term follow-up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM6 mutation.Eur J Pediatr. 2009 Apr;168(4):439-42. doi: 10.1007/s00431-008-0767-1. Epub 2008 Jun 12.
2	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.
3	Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption. Science. 1999 Jul 2;285(5424):103-6. doi: 10.1126/science.285.5424.103.