BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (BARTS5)

Question 1

What is  BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (BARTS5)?

Accepted Answer

rare
X-linked recessive
mutation in the MAGED2 gene
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 5

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 300971

Question 4

Which enzymes are involved?

Accepted Answer

Melanoma-associated antigen D2

Disease	BARTTER SYNDROME, TYPE 5, ANTENATAL, TRANSIENT (BARTS5)
OMIM	300971 OMIM = Online Mendelian Inheritance of Men
Orphanet	112
Protein (UniProt)	Melanoma-associated antigen D2
Gene locus	Xp11.21
ICD	E26.8
Summary	rare X-linked recessive mutation in the MAGED2 gene 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 (serum) Calcium inc (urine) Chloride inc (amniotic fluid) Chloride dec (serum) Potassium dec (serum) Prostaglandin E2 inc (serum) Renin activity (PRA) or renin inc (plasma) Sodium dec (serum)
Symptoms	nephrocalcinosis onset, neonatal polyhydramnion (maternal) polyuria prematurity, premature delivery