Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

doi:10.1210/jc.2015-3442

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.

The Journal of clinical endocrinology and metabolism - 1 May 2016

Vargas-Poussou Rosa, Mansour-Hendili Lamisse, Baron Stéphanie, Bertocchio Jean-Philippe, Travers Caroline, Simian Christophe, Treard Cyrielle, Baudouin Véronique, Beltran Sonia, Broux Françoise, Camard Odile, Cloarec Sylvie, Cormier Catherine, Debussche Xavier, Dubosclard Emmanuelle, Eid Celine, Haymann Jean-Philippe, Kiando Soto Romuald, Kuhn Jean-Marc, Lefort Guy, Linglart Agnes, Lucas-Pouliquen Bernadette, Macher Marie-Alice, Maruani Gérard, Ouzounian Sophie, Polak Michel, Requeda Elisabeth, Robier Dominique, Silve Caroline, Souberbielle Jean-Claude, Tack Ivan, Vezzosi Delphine, Jeunemaitre Xavier, Houillier Pascal

Abstract excerpt

CONTEXT: Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogeneous condition resembling primary hyperparathyroidism (PHPT) but not curable by surgery; FHH types 1, 2, and 3 are due to loss-of-function mutations of the CASR, GNA11, or AP2S1 genes, respectively. OBJECTIVE: This study aimed to compare the phenotypes of patients with genetically proven FHH types 1 or 3 or PHPT. DESIGN, SETTING, AND...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adaptor Protein Complex 2

Share to Calcium

Share to Cross-Sectional Studies

Share to GTP-Binding Protein alpha Subunits

Share to Hypercalcemia

Share to Hyperparathyroidism, Primary

Share to Parathyroid Hormone

Share to Receptors, Calcium-Sensing

Source

Open in PubMed

Identifiers

PMID: 26963950
DOI: 10.1210/jc.2015-3442

Genes

CASR
GNA11
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Familial Hypocalciuric Hypercalcemia Types 1 and 3 and Primary Hyperparathyroidism: Similarities and Differences.PMID 26963950Read ↗

Stepwise CaSR, AP2S1, and GNA11 sequencing in patients with suspected familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

Calcium-sensing-related gene mutations in hypercalcaemic hypocalciuric patients as differential diagnosis from primary hyperparathyroidism: detection of two novel inactivating mutations in an Italian population.Semantic proximity Read ↗

[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].Semantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia: The Challenge of DiagnosisSemantic proximity Read ↗

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.Semantic proximity Read ↗

Genetics of hereditary forms of primary hyperparathyroidismSemantic proximity Read ↗

Primary hyperparathyroidism and familial hypocalciuric hypercalcemia: relationships and clinical implications.Semantic proximity Read ↗

Molecular genetic analysis of the calcium sensing receptor gene in patients clinically suspected to have familial hypocalciuric hypercalcemia: phenotypic variation and mutation spectrum in a Danish population.Semantic proximity Read ↗

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.Semantic proximity Read ↗

Calcium-sensing receptor (CASR) mutations in hypercalcemic states: studies from a single endocrine clinic over three years.Semantic proximity Read ↗

Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.Semantic proximity Read ↗

Parathyroid hormone-dependent familial hypercalcemia with low measured PTH levels and a presumptive novel pathogenic mutation in CaSR.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.