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Article

Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.

European journal of medical genetics - 1 Apr 2016

Murphy Heidi, Patrick Jessica, Báez-Irizarry Eileen, Lacassie Yves, Gómez Ricardo, Vargas Alfonso, Barkemeyer Brian, Kanotra Sohit, Zambrano Regina M

Abstract excerpt

Neonatal severe hyperparathyroidism (NSHPT) is a rare, life-threatening condition that presents with severe hypercalcemia, hyperparathyroidism, and osteopenia in the newborn period. Treatment of NSHPT traditionally includes hydration and bisphosphonates; however newer calcimimetic agents, such as cinacalcet, are now being utilized to prevent or delay parathyroidectomy which is technically difficult in the...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Share to Receptors, Calcium-Sensing

Source

Identifiers

PMID: 26855056
DOI: 10.1016/j.ejmg.2016.02.001

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Neonatal severe hyperparathyroidism caused by homozygous mutation in CASR: A rare cause of life-threatening hypercalcemia.PMID 26855056Read ↗

Successful use of cinacalcet monotherapy in the management of siblings with homozygous calcium-sensing receptor mutation.Semantic proximity Read ↗

Cinacalcet Monotherapy in Neonatal Severe Hyperparathyroidism: A Case Study and ReviewSemantic proximity Read ↗

Subtotal Parathyroidectomy Successfully Controls Calcium Levels of Patients with Neonatal Severe Hyperparathyroidism Carrying a Novel CASR Mutation.Semantic proximity Read ↗

New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT).Semantic proximity Read ↗

Neonatal Severe Hyperparathyroidism: Novel Insights From Calcium, PTH, and the CASR Gene.Semantic proximity Read ↗

Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene.Semantic proximity Read ↗

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Neonatal severe hyperparathyroidism: further clinical and molecular delineation.Semantic proximity Read ↗

A Case of Neonatal Severe Hyperparathyroidism: Challenges in Management.Semantic proximity Read ↗

The efficiency of cinacalcet treatment in delaying parathyroidectomy in a case with neonatal severe hyperparathyroidism caused by homozygous mutation in the CASR gene.Semantic proximity Read ↗

A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder.Semantic proximity Read ↗

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