HYPOMAGNESEMIA 3, RENAL; HOMG3

Question 1

What is  HYPOMAGNESEMIA 3, RENAL; HOMG3?

Accepted Answer

rare
autosomal recessive
mutation in the claudin-16 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hypomagnesiämie Typ 3; Familiäre Hypomagnesiämie mit Hyperkalziurie und Nephrokalzinose ohne schwere Augenbeteiligung

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 248250

Question 4

Which enzymes are involved?

Accepted Answer

Claudin-16

Disease	HYPOMAGNESEMIA 3, RENAL; HOMG3
Synonym	MAGNESIUM, DEFECT IN RENAL TUBULAR TRANSPORT OF
OMIM	248250 OMIM = Online Mendelian Inheritance of Men
Orphanet	31043
Protein (UniProt)	Claudin-16
Gene locus	3q28
ICD	E83.4
Summary	rare autosomal recessive mutation in the claudin-16 gene
Laboratory findings	Albumin dec (plasma) Calcium inc (serum) Calcium inc (urine) Magnesium inc (urine) Magnesium inc (serum) Phosphate inc (serum) Uric acid inc (serum)
Symptoms	behavior, hyperactive, restless chorioretinitis corneal deposits diarrhea edema feeding difficulties, poor feeding hearing defect, deafness hearing defect, deafness hematuria hyperopia hypotonia infections (urinary tract) irritability muscle weakness nephrocalcinosis nystagmus onset, infancy onset, neonatal opisthotonus pain, abdominal polydipsia (increased drinking) polyuria renal failure, acute/chronic seizures strabismus stridor tetany tremor or twitching urolithiasis, nephrolithiasis, kidney stones