HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

type 1 familial Hypocalciuric hypercalcemia

A heritable form of hypercalcemia that is transmitted as an autosomal dominant trait with a high degree of PENETRANCE. It is characterized by chronic elevation of serum calcium levels, very low urinary calcium excretion, normal to slightly elevated circulating PARATHYROID HORMONE levels, and hypermagnesemia. Affected individuals are usually asymptomatic, but CHONDROCALCINOSIS and PANCREATITIS may occur in some cases. Mutations in the CASR gene have been identified. OMIM: 145980
Also Known As:
Hypocalciuric hypercalcemia, familial, type 1; Familial Benign Hypercalcemia 1; Familial benign hypercalcemia type 1; Familial hypocalciuric hypercalcemia; Hypercalcemia, Familial Benign; Hypercalcemia, familial benign type 1; Hypocalciuric Hypercalcemia, Familial, Type I
Networked: 197 relevant articles (3 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Hypercalcemia (Milk Alkali Syndrome)
2. Primary Hyperparathyroidism
3. Hypoparathyroidism
4. Neonatal Severe Primary Hyperparathyroidism
5. Hyperplasia

Experts

1. Thakker, Rajesh V: 11 articles (11/2020 - 01/2013)
2. Hendy, Geoffrey N: 9 articles (07/2015 - 03/2002)
3. Gorvin, Caroline M: 8 articles (01/2020 - 07/2014)
4. Hannan, Fadil M: 8 articles (01/2020 - 01/2013)
5. Nissen, Peter H: 8 articles (02/2017 - 11/2007)
6. Cranston, Treena: 7 articles (11/2020 - 01/2013)
7. Marx, Stephen J: 7 articles (11/2017 - 11/2002)
8. Canaff, Lucie: 7 articles (07/2015 - 03/2002)
9. Cole, David E C: 7 articles (07/2015 - 03/2002)
10. Nesbit, M Andrew: 6 articles (10/2017 - 01/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 1 familial Hypocalciuric hypercalcemia:
1. CalciumIBA
2. CreatinineIBA
3. SodiumIBA
4. Calcium-Sensing ReceptorsIBA
5. Parathyroid Hormone (Parathormone)IBA
6. GTP-Binding Proteins (G-Protein)IBA
01/01/2016 - "A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2)."
10/19/2017 - "Loss-of-function mutations of GNA11, which encodes G-protein subunit α11 (Gα11), a signaling partner for the calcium-sensing receptor (CaSR), result in familial hypocalciuric hypercalcemia type 2 (FHH2). "
01/01/2023 - "Familial hypocalciuric hypercalcemia type 2 (FHH2) and autosomal dominant hypocalcemia type 2 (ADH2) are due to loss- and gain-of-function mutations, respectively, of the GNA11 gene that encodes the G protein subunit Gα11, a signaling partner of the calcium-sensing receptor (CaSR). "
07/01/2014 - "Autosomal dominant hypocalcemia (ADH) types 1 and 2 are due to calcium-sensing receptor (CASR) and G-protein subunit-α11 (GNA11) gain-of-function mutations, respectively, whereas CASR and GNA11 loss-of-function mutations result in familial hypocalciuric hypercalcemia (FHH) types 1 and 2, respectively. "
08/09/1996 - "Seven inactivating mutations, which cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism, show a reduced functional activity of the receptor because they may 1) reduce its affinity for agonists; 2) prevent conversion of the receptor from a putatively immature, high mannose form into the fully glycosylated and biologically active form of the CaR, in addition to lowering its affinity for agonists; or 3) fail to couple the receptor to and/or activate its respective G protein(s). "
7. Cinacalcet (Sensipar)FDA Link
8. Vitamin DFDA LinkGeneric
9. Proteins (Proteins, Gene)FDA Link
01/01/2013 - "Here we show that missense mutations of AP2 σ subunit (AP2S1) affecting Arg15, which forms key contacts with dileucine-based motifs of CCV cargo proteins, result in familial hypocalciuric hypercalcemia type 3 (FHH3), an extracellular calcium homeostasis disorder affecting the parathyroids, kidneys and bone. "
01/01/2022 - "Hypocalciuric hypercalcemia syndrome (familial hypocalciuric hypercalcemia, FHH) is an inherited condition based on dysfunction of the calcium receptor or its associated partner proteins. "
06/01/2020 - "Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant disorders caused by dysfunction of the calcium sensing receptor (CaSR) and its downstream signaling proteins, leading to generally asymptomatic hypercalcemia. "
02/01/2001 - "Mutations of the CASR gene cause familial hypocalciuric hypercalcemia or autosomal dominant hypoparathyroidism, depending on whether they decrease or increase, respectively, ligand binding to the receptor protein. "
06/27/2013 - "Missense GNA11 mutations (Arg181Gln and Phe341Leu) were detected in two unrelated patients with hypocalcemia; they were therefore identified as having autosomal dominant hypocalcemia type 2. All four GNA11 mutations predicted disrupted protein structures, and assessment on the basis of in vitro expression showed that familial hypocalciuric hypercalcemia type 2-associated mutations decreased the sensitivity of cells expressing calcium-sensing receptors to changes in extracellular calcium concentrations, whereas autosomal dominant hypocalcemia type 2-associated mutations increased cell sensitivity. "
10. Codon (Codons)IBA

Therapies and Procedures

1. Parathyroidectomy
2. Therapeutics
3. Intravenous Administration
4. Gastric Bypass (Roux-en-Y Gastric Bypass)
5. Tympanoplasty