HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3

Question 1

What is  HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3?

Accepted Answer

rare
autosomal dominant
mutation in the KCNJ5 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Hyperaldosteronismus, familiärer, Typ III

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613677

Question 4

Which enzymes are involved?

Accepted Answer

G protein-activated inward rectifier potassium channel 4

Disease	HYPERALDOSTERONISM, FAMILIAL, TYPE III; HALD3
OMIM	613677 OMIM = Online Mendelian Inheritance of Men
Orphanet	251274
Protein (UniProt)	G protein-activated inward rectifier potassium channel 4
Gene locus	11q24.3
ICD	E26.0
Summary	rare autosomal dominant mutation in the KCNJ5 gene
Laboratory findings	Aldosterone inc (serum) Calcium normal/inc (urine) Potassium dec (serum) Renin activity (PRA) or renin dec (plasma)
Symptoms	adrenal hyperplasia hypertension hypoaldosteronism hypokalemia metabolic acidosis muscle weakness onset, adolescent onset, childhood polydipsia (increased drinking) polyuria