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Familial hypocalciuric hypercalcemia(FHH)

MedGen UID:
369200
Concept ID:
C1809471
Disease or Syndrome
Synonyms: Familial benign hypercalcemia; FHH
SNOMED CT: Familial benign hypercalcemia (237885008); Familial hypocalciuric hypercalcemia (237885008); FHH - familial hypocalciuric hypercalcemia (237885008)
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.
 
Monarch Initiative: MONDO:0018458
OMIM® Phenotypic series: PS145980
Orphanet: ORPHA405

Definition

Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial hypocalciuric hypercalcemia

Professional guidelines

PubMed

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: 37810884Free PMC Article
Appelman-Dijkstra NM, Pilz S
J Clin Endocrinol Metab 2023 May 17;108(6):1505-1513. doi: 10.1210/clinem/dgac734. PMID: 36546344Free PMC Article
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: 34863037Free PMC Article

Recent clinical studies

Etiology

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
Newey PJ, Hannan FM, Wilson A, Thakker RV
Clin Endocrinol (Oxf) 2022 Oct;97(4):483-501. Epub 2021 Dec 21 doi: 10.1111/cen.14644. PMID: 34935164Free PMC Article
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: 34863037Free PMC Article
Newey PJ
Endocrinol Metab Clin North Am 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003. PMID: 34774240
Brown EM
Endocrinol Metab Clin North Am 2000 Sep;29(3):503-22. doi: 10.1016/s0889-8529(05)70148-1. PMID: 11033758

Diagnosis

Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL, Lacroix A, Liberman U, Palermo A, Pepe J, Rizzoli R, Wermers R, Thakker RV
J Bone Miner Res 2022 Nov;37(11):2315-2329. Epub 2022 Oct 17 doi: 10.1002/jbmr.4665. PMID: 36245271Free PMC Article
Masi L
Front Horm Res 2019;51:1-12. Epub 2018 Nov 19 doi: 10.1159/000491034. PMID: 30641515
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: 30449544Free PMC Article
Stokes VJ, Nielsen MF, Hannan FM, Thakker RV
J Bone Miner Res 2017 Nov;32(11):2157-2170. Epub 2017 Nov 2 doi: 10.1002/jbmr.3296. PMID: 28914984Free PMC Article
Carroll MF, Schade DS
Am Fam Physician 2003 May 1;67(9):1959-66. PMID: 12751658

Therapy

Appelman-Dijkstra NM, Pilz S
J Clin Endocrinol Metab 2023 May 17;108(6):1505-1513. doi: 10.1210/clinem/dgac734. PMID: 36546344Free PMC Article
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
Marx SJ
J Clin Endocrinol Metab 2017 Nov 1;102(11):3933-3936. doi: 10.1210/jc.2017-01606. PMID: 28945857Free PMC Article
Lietman SA, Germain-Lee EL, Levine MA
Curr Opin Pediatr 2010 Aug;22(4):508-15. doi: 10.1097/MOP.0b013e32833b7c23. PMID: 20601885Free PMC Article
Carroll MF, Schade DS
Am Fam Physician 2003 May 1;67(9):1959-66. PMID: 12751658

Prognosis

Minisola S, Arnold A, Belaya Z, Brandi ML, Clarke BL, Hannan FM, Hofbauer LC, Insogna KL, Lacroix A, Liberman U, Palermo A, Pepe J, Rizzoli R, Wermers R, Thakker RV
J Bone Miner Res 2022 Nov;37(11):2315-2329. Epub 2022 Oct 17 doi: 10.1002/jbmr.4665. PMID: 36245271Free PMC Article
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: 34863037Free PMC Article
Vannucci L, Brandi ML
Front Horm Res 2019;51:52-62. Epub 2018 Nov 19 doi: 10.1159/000491038. PMID: 30641521
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: 30449544Free PMC Article
Carroll MF, Schade DS
Am Fam Physician 2003 May 1;67(9):1959-66. PMID: 12751658

Clinical prediction guides

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: 37810884Free PMC Article
Howles SA, Gorvin CM, Cranston T, Rogers A, Gluck AK, Boon H, Gibson K, Rahman M, Root A, Nesbit MA, Hannan FM, Thakker RV
J Bone Miner Res 2023 Jun;38(6):907-917. Epub 2023 Apr 18 doi: 10.1002/jbmr.4803. PMID: 36970776Free PMC Article
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
Lemoine S, Figueres L, Bacchetta J, Frey S, Dubourg L
Ann Endocrinol (Paris) 2022 Aug;83(4):237-243. Epub 2022 May 19 doi: 10.1016/j.ando.2022.05.003. PMID: 35598638
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: 34863037Free PMC Article

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