BARTTER SYNDROME, TYPE 3; BARTS3

Question 1

What is  BARTTER SYNDROME, TYPE 3; BARTS3?

Accepted Answer

rare
autosomal recessive
Types of Bartter syndrome:
- Type I (OMIM 601678)
- Type II (OMIM 241200)
- Type III (OMIM 607364), classic Bartter syndrome
- Type IVA (OMIM 602522)
- Type IVB (OMIM 613090)
- Type V (OMIM 300971)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Bartter-Syndrom, Typ 3

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 607364

Question 4

Which enzymes are involved?

Accepted Answer

Chloride channel protein ClC-Kb

Disease	BARTTER SYNDROME, TYPE 3; BARTS3
Synonym	BARTTER SYNDROME, CLASSIC
OMIM	607364 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	Chloride channel protein ClC-Kb
Gene locus	1p36.13
ICD	E26.8
Summary	rare autosomal recessive Types of Bartter syndrome: - Type I (OMIM 601678) - Type II (OMIM 241200) - Type III (OMIM 607364), classic Bartter syndrome - Type IVA (OMIM 602522) - Type IVB (OMIM 613090) - Type V (OMIM 300971)
Laboratory findings	Aldosterone inc (plasma) Chloride inc (urine) Chloride dec (serum) Potassium dec (serum) Potassium inc (urine) Renin activity (PRA) or renin inc (plasma) Sodium normal/inc (serum)
Symptoms	dehydration failure to thrive hypokalemia metabolic alkalosis muscle weakness onset, adolescent onset, childhood onset, fetus onset, infancy onset, neonatal onset, variable age polyuria vomiting