Details of Disease | DrugMAP

General Information of Disease (ID: DISCV46V)

Disease Name	Bartter disease type 2
Synonyms	hypokalemic alkalosis with hypercalciuria antenatal 2; Bartter syndrome antenatal type 2; hypokalemic alkalosis with hypercalciuria, antenatal, 2; Bartter syndrome, type 2, antenatal; hypokalemic alkalosis with hypercalciuria 2, antenatal; Bartter syndrome, antenatal, type 2; BARTS2; Bartter syndrome type 2 antenatal; Bartter syndrome, type 2; KCNJ1 Bartter syndrome; Bartter syndrome type 2; hypokalemic alkalosis with hypercalciuria 2 antenatal; Bartter syndrome caused by mutation in KCNJ1; Bartter disease type 2; hyperprostaglandin E syndrome 2
Definition	Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene.
Disease Hierarchy	DIS7D44B: Bartter syndrome DISCV46V: Bartter disease type 2
Disease Identifiers	MONDO ID MONDO_0009424 MESH ID C537651 UMLS CUI C1855849 OMIM ID 241200 MedGen ID 343428 Orphanet ID 620220 SNOMED CT ID 700109009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ1	TTJ13ST	Strong	Autosomal recessive	[1]
KCNJ1	TTJ13ST	Strong	Biomarker	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
KCNJ1	OTIXCRI6	Strong	Autosomal recessive	[1]
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References

1	Clinical presentation of genetically defined patients with hypokalemic salt-losing tubulopathies. Am J Med. 2002 Feb 15;112(3):183-90. doi: 10.1016/s0002-9343(01)01086-5.
2	Typical Features of Amelogenesis Imperfecta in Two Patients with Bartter's Syndrome.Nephron Extra. 2012 Jan;2(1):319-25. doi: 10.1159/000345801. Epub 2012 Dec 18.