HYPOMAGNESEMIA 2, RENAL; HOMG2

Question 1

What is  HYPOMAGNESEMIA 2, RENAL; HOMG2?

Accepted Answer

rare
autosomal dominant
mutation in the FXYD2 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypomagnesiämie Typ 2; Primäre Hypomagnesiämie mit Hypokalziurie, autosomal-dominant; HOMG2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 154020

Question 4

Which enzymes are involved?

Accepted Answer

Sodium/potassium-transporting ATPase subunit gamma

Disease	HYPOMAGNESEMIA 2, RENAL; HOMG2
OMIM	154020 OMIM = Online Mendelian Inheritance of Men
Orphanet	34528
Protein (UniProt)	Sodium/potassium-transporting ATPase subunit gamma
Gene locus	11q23.3
ICD	E83.4
Summary	rare autosomal dominant mutation in the FXYD2 gene
Laboratory findings	Calcium inc (urine) Magnesium inc (urine) Magnesium dec (serum) Potassium dec (serum)
Symptoms	chondrocalcinosis hypokalemia muscle weakness onset, adolescent onset, childhood onset, infancy renal failure, acute/chronic seizures