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Familial hypocalciuric hypercalcemia 2(FBH2; HHC2)

MedGen UID:: 374447
•Concept ID:: C1840347
•: Disease or Syndrome

Synonyms:	Familial benign hypercalcemia, type 2; FAMILIAL BENIGN HYPERCALCEMIA, TYPE II; Hypocalciuric hypercalcemia, familial, type II; Hypocalciuric hypercalcemia, type II
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	GNA11 (19p13.3)

Monarch Initiative:	MONDO:0007792
OMIM®:	145981
Orphanet:	ORPHA101049

Definition

Familial hypocalciuric hypercalcemia type II (HHC2) is an autosomal dominant disorder characterized by lifelong elevations of serum calcium concentrations with low urinary calcium excretion and normal circulating parathyroid hormone concentrations in most patients. Patients are generally asymptomatic (summary by Nesbit et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of hypocalciuric hypercalcemia, see HHC1 (145980). [from OMIM]

Clinical features

From HPO

Multiple lipomas

MedGen UID:: 677074
•Concept ID:: C0745730
•: Finding

The presence of multiple lipomas (a type of benign tissue made of fatty tissue).

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Hypocalciuria

MedGen UID:: 9381
•Concept ID:: C0020599
•: Disease or Syndrome

An abnormally decreased calcium concentration in the urine.

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Nephrolithiasis

MedGen UID:: 98227
•Concept ID:: C0392525
•: Disease or Syndrome

The presence of calculi (stones) in the kidneys.

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Parathormone-independent increased renal tubular calcium reabsorption

MedGen UID:: 871133
•Concept ID:: C4025604
•: Finding

An increase in the reabsorption of calcium by the renal tubulus that is not associated with increased parathormone levels.

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Peptic ulcer

MedGen UID:: 45384
•Concept ID:: C0030920
•: Disease or Syndrome

The term peptic ulcer refers to acid peptic injury of the digestive tract, resulting in mucosal break reaching the submucosa. Peptic ulcers are usually located in the stomach or proximal duodenum, but they can also be found in the esophagus or Meckel's diverticulum. Infection with Helicobacter pylori and the use of non steroidal antiinflammatory drugs (NSAIDs) or aspirin are the main risk factors of both gastric and duodenal peptic ulcers.

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Chondrocalcinosis

MedGen UID:: 154303
•Concept ID:: C0553730
•: Disease or Syndrome

Radiographic evidence of articular calcification that represent calcium pyrophosphate depositions in soft tissue surrounding joints and at the insertions of tendons near joints (Entheses/Sharpey fibers) .

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Pancreatitis

MedGen UID:: 14586
•Concept ID:: C0030305
•: Disease or Syndrome

The presence of inflammation in the pancreas.

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Hypercalcemia

MedGen UID:: 5686
•Concept ID:: C0020437
•: Disease or Syndrome

An abnormally increased calcium concentration in the blood.

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Hypermagnesemia

MedGen UID:: 312005
•Concept ID:: C1522135
•: Finding

An abnormally increased magnesium concentration in the blood.

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Primary hyperparathyroidism

MedGen UID:: 66354
•Concept ID:: C0221002
•: Disease or Syndrome

A type of hyperparathyroidism caused by a primary abnormality of the parathyroid glands (e.g., adenoma, carcinoma, hyperplasia). Primary hyperparathyroidism is associated with hyercalcemia.

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Abnormality of metabolism/homeostasis
- Hypercalcemia
- Hypermagnesemia
Abnormality of the digestive system
- Peptic ulcer
Abnormality of the endocrine system
- Primary hyperparathyroidism
Abnormality of the genitourinary system
Abnormality of the immune system
- Pancreatitis
Abnormality of the musculoskeletal system
- Chondrocalcinosis
Neoplasm
- Multiple lipomas

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial hypocalciuric hypercalcemia 2

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Hereditary disease
      - Familial hypocalciuric hypercalcemia
        Familial hypocalciuric hypercalcemia 2

Professional guidelines

PubMed

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Mazarico-Altisent I, Capel I, Baena N, Bella-Cueto MR, Barcons S, Guirao X, Pareja R, Muntean A, Arsentales V, Caixàs A, Rigla M
Front Endocrinol (Lausanne) 2023;14:1244361. Epub 2023 Sep 21 doi: 10.3389/fendo.2023.1244361. PMID: 37810884 Free PMC Article

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Bollerslev J, Rejnmark L, Zahn A, Heck A, Appelman-Dijkstra NM, Cardoso L, Hannan FM, Cetani F, Sikjær T, Formenti AM, Björnsdottir S, Schalin-Jantti C, Belaya Z, Gibb FW, Lapauw B, Amrein K, Wicke C, Grasemann C, Krebs M, Ryhänen EM, Makay O, Minisola S, Gaujoux S, Bertocchio JP, Hassan-Smith ZK, Linglart A, Winter EM, Kollmann M, Zmierczak HG, Tsourdi E, Pilz S, Siggelkow H, Gittoes NJ, Marcocci C, Kamenicky P; 2021 PARAT Working Group
Eur J Endocrinol 2022 Feb 1;186(2):R33-R63. Epub 2022 Jan 13 doi: 10.1530/EJE-21-1044. [Epub ahead of print] PMID: 34863037 Free PMC Article

Outcome of Clinical Genetic Testing in Patients with Features Suggestive for Hereditary Predisposition to PTH-Mediated Hypercalcemia.

Khairi S, Osborne J, Jacobs MF, Clines GT, Miller BS, Hughes DT, Else T
Horm Cancer 2020 Oct;11(5-6):250-255. Epub 2020 Aug 5 doi: 10.1007/s12672-020-00394-2. PMID: 32761341 Free PMC Article

See all (9)

Recent clinical studies

Etiology

Personalised medicines for familial hypercalcemia and hyperparathyroidism.

Josephs TM, Zhang F, Dinh LV, Keller AN, Conigrave AD, Capuano B, Gregory KJ, Leach K
J Mol Endocrinol 2022 May 9;69(1):243-257. doi: 10.1530/JME-21-0263. PMID: 35318962

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

AP2S1 and GNA11 mutations - not a common cause of familial hypocalciuric hypercalcemia.

Hovden S, Rejnmark L, Ladefoged SA, Nissen PH
Eur J Endocrinol 2017 Feb;176(2):177-185. Epub 2016 Nov 15 doi: 10.1530/EJE-16-0842. PMID: 27913609

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

Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Treard C, Baudouin V, Beltran S, Broux F, Camard O, Cloarec S, Cormier C, Debussche X, Dubosclard E, Eid C, Haymann JP, Kiando SR, Kuhn JM, Lefort G, Linglart A, Lucas-Pouliquen B, Macher MA, Maruani G, Ouzounian S, Polak M, Requeda E, Robier D, Silve C, Souberbielle JC, Tack I, Vezzosi D, Jeunemaitre X, Houillier P
J Clin Endocrinol Metab 2016 May;101(5):2185-95. Epub 2016 Mar 10 doi: 10.1210/jc.2015-3442. PMID: 26963950

See all (39)

Diagnosis

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.

Vannucci L, Brandi ML
Front Horm Res 2019;51:52-62. Epub 2018 Nov 19 doi: 10.1159/000491038. PMID: 30641521

Familial hypocalciuric hypercalcemia and related disorders.

Lee JY, Shoback DM
Best Pract Res Clin Endocrinol Metab 2018 Oct;32(5):609-619. Epub 2018 May 26 doi: 10.1016/j.beem.2018.05.004. PMID: 30449544 Free PMC Article

Familial hypocalciuric hypercalcemia and calcium sensing receptor.

Mrgan M, Nielsen S, Brixen K
Acta Clin Croat 2014 Jun;53(2):220-5. PMID: 25163238

Investigation of hypercalcemia.

Endres DB
Clin Biochem 2012 Aug;45(12):954-63. Epub 2012 May 5 doi: 10.1016/j.clinbiochem.2012.04.025. PMID: 22569596

See all (76)

Therapy

Familial hypocalciuric hypercalcemia in an infant: diagnosis and management quandaries.

Goldsweig B, Turk Yilmaz RS, Ravindranath Waikar A, Brownstein C, Carpenter TO
J Bone Miner Res 2024 Sep 26;39(10):1406-1411. doi: 10.1093/jbmr/zjae137. PMID: 39163488

Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.

Koca SB
Turk J Pediatr 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040. PMID: 37853976

Personalised medicines for familial hypercalcemia and hyperparathyroidism.

Josephs TM, Zhang F, Dinh LV, Keller AN, Conigrave AD, Capuano B, Gregory KJ, Leach K
J Mol Endocrinol 2022 May 9;69(1):243-257. doi: 10.1530/JME-21-0263. PMID: 35318962

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology.

Marx SJ
J Clin Endocrinol Metab 2017 Nov 1;102(11):3933-3936. doi: 10.1210/jc.2017-01606. PMID: 28945857 Free PMC Article

See all (17)

Prognosis

Genetics of hereditary forms of primary hyperparathyroidism.

English KA, Lines KE, Thakker RV
Hormones (Athens) 2024 Mar;23(1):3-14. Epub 2023 Dec 1 doi: 10.1007/s42000-023-00508-9. PMID: 38038882 Free PMC Article

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.

Vannucci L, Brandi ML
Front Horm Res 2019;51:52-62. Epub 2018 Nov 19 doi: 10.1159/000491038. PMID: 30641521

Familial hypocalciuric hypercalcemia and related disorders.

Lee JY, Shoback DM
Best Pract Res Clin Endocrinol Metab 2018 Oct;32(5):609-619. Epub 2018 May 26 doi: 10.1016/j.beem.2018.05.004. PMID: 30449544 Free PMC Article

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV
Nat Rev Endocrinol 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0. PMID: 30443043 Free PMC Article

See all (27)

Clinical prediction guides

Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.

Koca SB
Turk J Pediatr 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040. PMID: 37853976

Genetic testing for familial hyperparathyroidism: clinical-genetic profile in a Mediterranean cohort.

Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.

Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R
J Pediatr 2023 Jun;257:113367. Epub 2023 Mar 2 doi: 10.1016/j.jpeds.2023.02.013. PMID: 36868303

European Expert Consensus on Practical Management of Specific Aspects of Parathyroid Disorders in Adults and in Pregnancy: Recommendations of the ESE Educational Program of Parathyroid Disorders.

Clinical characteristics of familial hypocalciuric hypercalcaemia type 1: A multicentre study of 77 adult patients.

Mouly C, Vargas-Poussou R, Lienhardt A, Silve C, Hureaux M, Magdelaine C, Buffet A, Grunenwald S, Kuhn JM, Brue T, Reznik Y, Tabarin A, Martin-Coignard D, Haymann JP, Tack I, Bennet A, Caron P, Linglart A, Vezzosi D; Reference Centre for Rare Diseases of Calcium, Phosphate Metabolism
Clin Endocrinol (Oxf) 2020 Sep;93(3):248-260. Epub 2020 May 14 doi: 10.1111/cen.14211. PMID: 32347971

See all (38)

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Familial hypocalciuric hypercalcemia 2(FBH2; HHC2)

Definition

Clinical features

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Practice guidelines

Molecular resources

Consumer resources

Reviews

Related information

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