HYPOMAGNESEMIA 1, INTESTINAL; HOMG1

Question 1

What is  HYPOMAGNESEMIA 1, INTESTINAL; HOMG1?

Accepted Answer

rare
autosomal recessive
mutations in the TRPM6 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypomagnesiämie Typ 1; Hypomagnesiämie durch selektive Magnesiumaufnahme; HOMG1

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602014

Question 4

Which enzymes are involved?

Accepted Answer

Transient receptor potential cation channel subfamily M member 6

Disease	HYPOMAGNESEMIA 1, INTESTINAL; HOMG1
Synonym	HOMG1
OMIM	602014 OMIM = Online Mendelian Inheritance of Men
Orphanet	30924
Protein (UniProt)	Transient receptor potential cation channel subfamily M member 6
Gene locus	9q21.13
ICD	E83.4
Summary	rare autosomal recessive mutations in the TRPM6 gene
Laboratory findings	Calcium dec (serum) Magnesium dec (serum)
Symptoms	infantile spasms onset, infancy seizures tetany