Details of Disease | DrugMAP

General Information of Disease (ID: DISH9V6T)

Disease Name	Bartter syndrome type 4
Synonyms	Bartter syndrome type 4; Bartter syndrome with sensorineural deafness; Bartter syndrome type IV
Definition	A form of Bartter syndrome characterized by maternal polyhydramnios, premature delivery, salt loss, polyuria and sensorineural deafness, associated with hypokalemic and hypochloremic metabolic alkalosis, increased levels of plasma renin and aldosterone, and low to normal blood pressure. Urinary calcium excretion rates are variable, and nephrocalcinosis is typically absent.
Disease Hierarchy	DIS7D44B: Bartter syndrome DISH9V6T: Bartter syndrome type 4
Disease Identifiers	MONDO ID MONDO_0019524 UMLS CUI C3838860 MedGen ID 824706 Orphanet ID 89938 SNOMED CT ID 700112007

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
CLCNKA	TT823N1	Supportive	Autosomal recessive	[1]
CLCNKB	TTR68GQ	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BSND	OTYWZWPD	Supportive	Autosomal recessive	[2]
CLCNKA	OT7Q0RI9	Supportive	Autosomal recessive	[1]
CLCNKB	OTMIG14Q	Supportive	Autosomal recessive	[1]
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References

1	Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness. J Med Genet. 2008 Mar;45(3):182-6. doi: 10.1136/jmg.2007.052944.
2	Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. Clin Nephrol. 2014 May;81(5):363-8. doi: 10.5414/CN107687.