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

Hypercalciuric hypocalcemia 1

Hypercalciuric hypocalcemia 1 is an autosomal dominant disorder with symptoms resembling Bartter syndrome. The disease is caused by gain-of-function mutations of the calcium sensing receptor gene.


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
Transient antenatal Bartter syndrome



Nesbit MA et al. (2013) Mutations affecting G-protein subunit α11 in hypercalcemia and hypocalcemia.


Stock JL et al. (1999) Autosomal dominant hypoparathyroidism associated with short stature and premature osteoarthritis.


Lienhardt A et al. (2000) A large homozygous or heterozygous in-frame deletion within the calcium-sensing receptor's carboxylterminal cytoplasmic tail that causes autosomal dominant hypocalcemia.


Brown EM et al. (2001) Extracellular calcium sensing and extracellular calcium signaling.


Nagase T et al. (2002) A family of autosomal dominant hypocalcemia with a positive correlation between serum calcium and magnesium: identification of a novel gain of function mutation (Ser(820)Phe) in the calcium-sensing receptor.


Sato K et al. (2002) Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene.


Watanabe S et al. (2002) Association between activating mutations of calcium-sensing receptor and Bartter's syndrome.


Tan YM et al. (2003) Autosomal dominant hypocalcemia: a novel activating mutation (E604K) in the cysteine-rich domain of the calcium-sensing receptor.


Hendy GN et al. (2003) Recurrent familial hypocalcemia due to germline mosaicism for an activating mutation of the calcium-sensing receptor gene.


Hough TA et al. (2004) Activating calcium-sensing receptor mutation in the mouse is associated with cataracts and ectopic calcification.


Mittelman SD et al. (2006) A hypocalcemic child with a novel activating mutation of the calcium-sensing receptor gene: successful treatment with recombinant human parathyroid hormone.


Finegold DN et al. (1994) Preliminary localization of a gene for autosomal dominant hypoparathyroidism to chromosome 3q13.


Pollak MR et al. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation.


Løvlie R et al. (1996) The Ca(2+)-sensing receptor gene (PCAR1) mutation T151M in isolated autosomal dominant hypoparathyroidism.


Baron J et al. (1996) Mutations in the Ca(2+)-sensing receptor gene cause autosomal dominant and sporadic hypoparathyroidism.


Pearce SH et al. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor.


De Luca F et al. (1997) Sporadic hypoparathyroidism caused by de Novo gain-of-function mutations of the Ca(2+)-sensing receptor.


Watanabe T et al. (1998) Familial hypoparathyroidism: identification of a novel gain of function mutation in transmembrane domain 5 of the calcium-sensing receptor.


Okazaki R et al. (1999) A novel activating mutation in calcium-sensing receptor gene associated with a family of autosomal dominant hypocalcemia.


Yamamoto M et al. (2000) Comparison of hypocalcemic hypercalciuria between patients with idiopathic hypoparathyroidism and those with gain-of-function mutations in the calcium-sensing receptor: is it possible to differentiate the two disorders?


None (2001) Genetic developments in hypoparathyroidism.


Vargas-Poussou R et al. (2002) Functional characterization of a calcium-sensing receptor mutation in severe autosomal dominant hypocalcemia with a Bartter-like syndrome.


Hu J et al. (2004) Autosomal dominant hypocalcemia in monozygotic twins caused by a de novo germline mutation near the amino-terminus of the human calcium receptor.


Vezzoli G et al. () Autosomal dominant hypocalcemia with mild type 5 Bartter syndrome.


OMIM.ORG article

Omim 601198 [^]

Orphanet article

Orphanet ID 263417 [^]
Update: May 10, 2019
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