HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5

Question 1

What is  HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5?

Accepted Answer

rare
autosomal recessive
mutation in the claudin-19 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypomagnesiämie Typ 5; Familiäre Hypomagnesiämie - Hyperkalziurie - Nephrokalzinose - Augenbeteiligung; Meier-Blumber

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 248190

Question 4

Which enzymes are involved?

Accepted Answer

Claudin-19

Disease	HYPOMAGNESEMIA 5, RENAL, WITH OCULAR INVOLVEMENT; HOMG5
Synonym	HYPOMAGNESEMIA, RENAL, WITH OCULAR INVOLVEMENT
OMIM	248190 OMIM = Online Mendelian Inheritance of Men
Orphanet	2196
Protein (UniProt)	Claudin-19
Gene locus	1p24.2
ICD	E83.4
Summary	rare autosomal recessive mutation in the claudin-19 gene
Laboratory findings	Calcium inc (urine) Magnesium dec (serum) Magnesium inc (urine)
Symptoms	infections (urinary tract) myopia nystagmus onset, childhood renal failure, acute/chronic retinitis pigmentosa tetany urolithiasis, nephrolithiasis, kidney stones