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Yang, C. Autosomal Dominant Hypocalcemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4894 (accessed on 23 September 2026).
Yang C. Autosomal Dominant Hypocalcemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4894. Accessed September 23, 2026.
Yang, Catherine. "Autosomal Dominant Hypocalcemia" Encyclopedia, https://encyclopedia.pub/entry/4894 (accessed September 23, 2026).
Yang, C. (2020, December 24). Autosomal Dominant Hypocalcemia. In Encyclopedia. https://encyclopedia.pub/entry/4894
Yang, Catherine. "Autosomal Dominant Hypocalcemia." Encyclopedia. Web. 24 December, 2020.
Autosomal Dominant Hypocalcemia
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/autosomal-dominant-hypocalcemia

Autosomal dominant hypocalcemia is characterized by low levels of calcium in the blood (hypocalcemia). Affected individuals can have an imbalance of other molecules in the blood as well, including too much phosphate (hyperphosphatemia) or too little magnesium (hypomagnesemia). Some people with autosomal dominant hypocalcemia also have low levels of a hormone called parathyroid hormone (hypoparathyroidism). This hormone is involved in the regulation of calcium levels in the blood. Abnormal levels of calcium and other molecules in the body can lead to a variety of signs and symptoms, although about half of affected individuals have no associated health problems.

genetic conditions

References

  1. Kinoshita Y, Hori M, Taguchi M, Watanabe S, Fukumoto S. Functional activities of mutant calcium-sensing receptors determine clinical presentations in patients with autosomal dominant hypocalcemia. J Clin Endocrinol Metab. 2014Feb;99(2):E363-8. doi: 10.1210/jc.2013-3430.
  2. Nesbit MA, Hannan FM, Howles SA, Babinsky VN, Head RA, Cranston T, Rust N,Hobbs MR, Heath H 3rd, Thakker RV. Mutations affecting G-protein subunit α11 inhypercalcemia and hypocalcemia. N Engl J Med. 2013 Jun 27;368(26):2476-2486. doi:10.1056/NEJMoa1300253.
  3. Raue F, Pichl J, Dörr HG, Schnabel D, Heidemann P, Hammersen G, Jaursch-HanckeC, Santen R, Schöfl C, Wabitsch M, Haag C, Schulze E, Frank-Raue K. Activatingmutations in the calcium-sensing receptor: genetic and clinical spectrum in 25patients with autosomal dominant hypocalcaemia - a German survey. Clin Endocrinol(Oxf). 2011 Dec;75(6):760-5. doi: 10.1111/j.1365-2265.2011.04142.x.
  4. Thim SB, Birkebaek NH, Nissen PH, Høst C. Activating calcium-sensing receptor gene variants in children: a case study of infant hypocalcaemia and literaturereview. Acta Paediatr. 2014 Nov;103(11):1117-25. doi: 10.1111/apa.12743.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 828
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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