Details of Disease | DrugMAP

General Information of Disease (ID: DIS5WI27)

Disease Name	Obsolete antenatal Bartter syndrome
Synonyms	hyperprostaglandin E syndrome; Bartter syndrome, furosemide-amiloride type; Bartter syndrome, furosemide type
Definition	OBSOLETE. A phenotypic variant of Bartter syndrome presenting antenatally with maternal polyhydramnios, pre-term delivery and postnatally with polyuria, and nephrocalcinosis. Hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II are characteristically associated. Genotypically they comprise Type 1 and Type 2 Bartter syndrome.
Disease Hierarchy	DIS01GPL: Grass pollen hypersensitivity DIS5WI27: Obsolete antenatal Bartter syndrome

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ1	TTJ13ST	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC12A1	DTO1UQY	Supportive	Autosomal recessive	[2]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ1	OTIXCRI6	Supportive	Autosomal recessive	[1]
MAGED2	OTMEWNSE	Supportive	Autosomal recessive	[3]
SLC12A1	OT6YSX0G	Supportive	Autosomal recessive	[2]
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References

1	Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes. Hum Mol Genet. 1997 Jan;6(1):17-26. doi: 10.1093/hmg/6.1.17.
2	Novel molecular variants of the Na-K-2Cl cotransporter gene are responsible for antenatal Bartter syndrome. Am J Hum Genet. 1998 Jun;62(6):1332-40. doi: 10.1086/301872.
3	Polyhydramnios, Transient Antenatal Bartter's Syndrome, and MAGED2 Mutations. N Engl J Med. 2016 May 12;374(19):1853-63. doi: 10.1056/NEJMoa1507629. Epub 2016 Apr 27.