Details of Disease | DrugMAP

General Information of Disease (ID: DISJJPTS)

Disease Name	Bartter disease type 3
Synonyms	Bartter syndrome, type 3, with hypocalciuria; Bartter syndrome classic; Bartter syndrome, type 3; Bartter syndrome, classic; Bartter syndrome type 3; BARTS3; adult Bartter syndrome; classic Bartter syndrome; Bartter syndrome type III; Bartter disease type 3
Definition	Classic Bartter syndrome is a type of Bartter syndrome, characterized by a milder clinical picture than the antenatal/infantile subtype, and presenting with failure to thrive, hypokalemic alkalosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Disease Hierarchy	DIS7D44B: Bartter syndrome DISJJPTS: Bartter disease type 3
Disease Identifiers	MONDO ID MONDO_0011822 MESH ID C537653 UMLS CUI C1846343 OMIM ID 607364 MedGen ID 335399 Orphanet ID 93605 SNOMED CT ID 700111000

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLC12A3	TTP362L	moderate	Biomarker	[1]
CLCNKA	TT823N1	Strong	Biomarker	[2]
CLCNKB	TTR68GQ	Strong	Autosomal recessive	[3]
CLCNKB	TTR68GQ	Strong	Genetic Variation	[4]
KCNJ1	TTJ13ST	Strong	Biomarker	[5]
SLC12A1	TTS087L	Strong	Genetic Variation	[6]
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⏷ Show the Full List of 6 DTT(s)

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AP3B1	OTYTIH5Q	moderate	Biomarker	[7]
FGL1	OTT0QHQ1	moderate	Biomarker	[7]
HPS1	OTKS5I7T	moderate	Biomarker	[7]
CLCNKB	OTMIG14Q	Strong	Autosomal recessive	[3]
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References

1	Clinical and genetic analyses of Chinese patients with Gitelman syndrome.Genet Mol Res. 2016 May 6;15(2). doi: 10.4238/gmr.15027859.
2	Salt-losing nephropathy in mice with a null mutation of the Clcnk2 gene.Acta Physiol (Oxf). 2016 Nov;218(3):198-211. doi: 10.1111/apha.12755. Epub 2016 Aug 1.
3	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.
4	A novel CLCNKB mutation in a Chinese girl with classic Bartter syndrome: a case report.BMC Med Genet. 2019 Aug 13;20(1):137. doi: 10.1186/s12881-019-0869-9.
5	Bartter syndrome.Curr Opin Nephrol Hypertens. 2003 Sep;12(5):527-32. doi: 10.1097/00041552-200309000-00008.
6	Inherited primary renal tubular hypokalemic alkalosis: a review of Gitelman and Bartter syndromes.Am J Med Sci. 2001 Dec;322(6):316-32. doi: 10.1097/00000441-200112000-00004.
7	Mutations in the chloride channel gene CLCNKB as a cause of classic Bartter syndrome.J Am Soc Nephrol. 2000 Aug;11(8):1449-1459. doi: 10.1681/ASN.V1181449.