Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Infantile Bartter syndrome with deafness type 4

Infantile Bartter syndrome is an autosomal recessive disease caused either by mutation of the BSND gene or by simultaneous mutation of CLCNKA and CLCNKB genes.

Epidemiology

Although exact figures still unknown and difficult to obtain, the the incidence is thought between 1 in 50,000 to 1 in 100,000.

Systematic

Bartter syndrome
Antenatal Bartter syndrome type 1
Antenatal Bartter syndrome type 2
Classic Bartter syndrome
Hypercalciuric hypocalcemia 1
Hypercalciuric hypocalcemia 2
Infantile Bartter syndrome with deafness type 4
BSND
CLCNKA
CLCNKB
Transient antenatal Bartter syndrome
Update:
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues