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GENATLAS PHENOTYPE

last update : 06-03-2017

Symbol	BSND4D
Location	1p36.13
Name	Bartter syndrome type 4, digenic
Corresponding gene	CLCNKA , CLCNKB
Other symbol(s)	BARTS4A
Main clinical features	polyhydramnios premature birth, postnatal polyuria and hypokalemic hypochloremic metabolic alkalosis, a typical appearance, a prominent forehead, triangular facies with drooping mouth, and large eyes and pinnae, sensorineural deafness and salt wasting
Genetic determination	autosomal recessive
Function/system disorder	ear
	kidney and urinary tract
Type	disease

Gene product

Name	chloride channel Ka and /or chloride channel Kb

Remark(s)

simultaneous mutation in both the CLCNKA and CLCNKB genes