U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Abnormal circulating calcium concentration

MedGen UID:
868059
Concept ID:
C4022450
Finding
Synonyms: Abnormal concentration of calcium in blood; Abnormality of calcium homeostasis
 
HPO: HP:0004363

Definition

Any deviation from the normal concentration of calcium in the blood circulation. [from HPO]

Conditions with this feature

Primary hypomagnesemia
MedGen UID:
120640
Concept ID:
C0268448
Disease or Syndrome
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis is a progressive renal disorder characterized by excessive urinary Ca(2+) and Mg(2+) excretion. There is progressive loss of kidney function, and in about 50% of cases, the need for renal replacement therapy arises as early as the second decade of life (summary by Muller et al., 2006). Amelogenesis imperfecta may also be present in some patients (Bardet et al., 2016). A similar disorder with renal magnesium wasting, renal failure, and nephrocalcinosis (HOMG5; 248190) is caused by mutations in another tight-junction gene, CLDN19 (610036), and is distinguished by the association of severe ocular involvement. For a discussion of phenotypic and genetic heterogeneity of familial hypomagnesemia, see HOMG1 (602014).
Trichorhinophalangeal dysplasia type I
MedGen UID:
140929
Concept ID:
C0432233
Disease or Syndrome
Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, and EXT1). Both types of TRPS are characterized by distinctive facial features; ectodermal features (fine, sparse, depigmented, and slow growing hair; dystrophic nails; and small breasts); and skeletal findings (short stature; short feet; brachydactyly with ulnar or radial deviation of the fingers; and early, marked hip dysplasia). TRPS II is characterized by multiple osteochondromas (typically first observed clinically on the scapulae and around the elbows and knees between ages 1 month and 6 years) and an increased risk of mild-to-moderate intellectual disability.
Familial X-linked hypophosphatemic vitamin D refractory rickets
MedGen UID:
196551
Concept ID:
C0733682
Disease or Syndrome
The phenotypic spectrum of X-linked hypophosphatemia (XLH) ranges from isolated hypophosphatemia to severe lower-extremity bowing. XLH frequently manifests in the first two years of life when lower-extremity bowing becomes evident with the onset of weight bearing; however, it sometimes is not manifest until adulthood, as previously unevaluated short stature. In adults, enthesopathy (calcification of the tendons, ligaments, and joint capsules) associated with joint pain and impaired mobility may be the initial presenting complaint. Persons with XLH are prone to spontaneous dental abscesses; sensorineural hearing loss has also been reported.
Autosomal recessive hypophosphatemic bone disease
MedGen UID:
501133
Concept ID:
C1853271
Disease or Syndrome
Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare autosomal recessive disorder characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. HHRH is distinct from other forms of hypophosphatemic rickets in that affected individuals present with hypercalciuria due to increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption (summary by Bergwitz et al., 2006).
Normophosphatemic familial tumoral calcinosis
MedGen UID:
355311
Concept ID:
C1864861
Disease or Syndrome
Osteogenesis imperfecta type 14
MedGen UID:
767342
Concept ID:
C3554428
Disease or Syndrome
Osteogenesis imperfecta (OI) is a connective tissue disorder characterized by bone fragility and low bone mass. Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with blue sclerae (166200); perinatal lethal OI type II, also known as congenital OI (166210); OI type III, a progressively deforming form with normal sclerae (259420); and OI type IV, with normal sclerae (166220). Most cases of OI are autosomal dominant with mutations in 1 of the 2 genes that code for type I collagen alpha chains, COL1A1 (120150) and COL1A2 (120160). Shaheen et al. (2012) described osteogenesis imperfecta type XIV (OI14), an autosomal recessive form of the disorder characterized by variable degrees of severity of multiple fractures and osteopenia, with normal teeth, sclerae, and hearing. Fractures first occur prenatally or by age 6 years.
Idiopathic basal ganglia calcification 1
MedGen UID:
1637664
Concept ID:
C4551624
Disease or Syndrome
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.
Renal hypomagnesemia 5 with ocular involvement
MedGen UID:
1648449
Concept ID:
C4721891
Disease or Syndrome
HOMG5 is an autosomal recessive disorder characterized by severe renal magnesium wasting, progressive renal failure, and nephrocalcinosis. Some patients also have severe visual impairment. Amelogenesis imperfecta has been reported in some patients (summary by Konrad et al., 2006 and Yamaguti et al., 2017). For a discussion of genetic heterogeneity of renal hypomagnesemia, see 602014.
Osteogenesis imperfecta, IIA 22
MedGen UID:
1801631
Concept ID:
C5676943
Disease or Syndrome
Osteogenesis imperfecta comprises a group of connective tissue disorders characterized clinically by bone fragility, low bone mass, and increased susceptibility to fractures. Osteogenesis imperfecta type XXII (OI22) is a severe recessive form of the disease (Dubail et al., 2020).

Professional guidelines

PubMed

Makras P, Papapoulos SE
Hormones (Athens) 2009 Apr-Jun;8(2):83-95. doi: 10.14310/horm.2002.1225. PMID: 19570736
Brandi L
Dan Med Bull 2008 Nov;55(4):186-210. PMID: 19232159
Kunadian V, Zorkun C, Williams SP, Biller LH, Palmer AM, Ogando KJ, Lew ME, Nethala N, Gibson WJ, Marble SJ, Buros JL, Gibson CM
J Thromb Thrombolysis 2008 Dec;26(3):234-42. Epub 2008 Sep 26 doi: 10.1007/s11239-008-0276-0. PMID: 18818881

Recent clinical studies

Etiology

Lecoq AL, Schilbach K, Rocher L, Trabado S, Briot K, Herrou J, Forbes A, Garnier A, Piketty M, Bidlingmaier M, Rothenbuhler A, Linglart A, Carette C, Chaumet-Riffaud P, Kamenický P
Eur J Endocrinol 2024 Aug 5;191(2):156-165. doi: 10.1093/ejendo/lvae089. PMID: 39120742
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Hyppönen E, Boucher BJ
Nutr Rev 2018 Sep 1;76(9):678-692. doi: 10.1093/nutrit/nuy034. PMID: 30020507
Reid IR, Gamble GD, Bolland MJ
J Intern Med 2016 Jun;279(6):524-40. Epub 2016 Jan 8 doi: 10.1111/joim.12464. PMID: 26749423
Aguilar-Dorado IC, Hernández G, Quintanar-Escorza MA, Maldonado-Vega M, Rosas-Flores M, Calderón-Salinas JV
Toxicol Appl Pharmacol 2014 Dec 1;281(2):195-202. Epub 2014 Oct 27 doi: 10.1016/j.taap.2014.10.003. PMID: 25448684

Diagnosis

Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P
J Bone Miner Res 2020 Jul;35(7):1263-1273. Epub 2020 Mar 27 doi: 10.1002/jbmr.3992. PMID: 32101626
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Aguilar-Dorado IC, Hernández G, Quintanar-Escorza MA, Maldonado-Vega M, Rosas-Flores M, Calderón-Salinas JV
Toxicol Appl Pharmacol 2014 Dec 1;281(2):195-202. Epub 2014 Oct 27 doi: 10.1016/j.taap.2014.10.003. PMID: 25448684
Makras P, Papapoulos SE
Hormones (Athens) 2009 Apr-Jun;8(2):83-95. doi: 10.14310/horm.2002.1225. PMID: 19570736
Moser H
Hum Genet 1984;66(1):17-40. doi: 10.1007/BF00275183. PMID: 6365739

Therapy

Hyppönen E, Boucher BJ
Nutr Rev 2018 Sep 1;76(9):678-692. doi: 10.1093/nutrit/nuy034. PMID: 30020507
Hung AM, Hakim RM
Am J Kidney Dis 2015 Jul;66(1):125-32. Epub 2015 Mar 28 doi: 10.1053/j.ajkd.2015.02.322. PMID: 25828570
Aguilar-Dorado IC, Hernández G, Quintanar-Escorza MA, Maldonado-Vega M, Rosas-Flores M, Calderón-Salinas JV
Toxicol Appl Pharmacol 2014 Dec 1;281(2):195-202. Epub 2014 Oct 27 doi: 10.1016/j.taap.2014.10.003. PMID: 25448684
Soliman AT, Ramadan MA, Sherif A, Aziz Bedair ES, Rizk MM
Metabolism 2001 Aug;50(8):905-11. doi: 10.1053/meta.2001.24924. PMID: 11474477
Pak CY, Zerwekh JE, Antich P
Trends Endocrinol Metab 1995 Sep;6(7):229-34. doi: 10.1016/1043-2760(95)00111-t. PMID: 11540313

Prognosis

Li J, Richmond B, Hong T
Int J Mol Sci 2021 Feb 25;22(5) doi: 10.3390/ijms22052299. PMID: 33669042Free PMC Article
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Hung AM, Hakim RM
Am J Kidney Dis 2015 Jul;66(1):125-32. Epub 2015 Mar 28 doi: 10.1053/j.ajkd.2015.02.322. PMID: 25828570
Portale AA, Wolf M, Jüppner H, Messinger S, Kumar J, Wesseling-Perry K, Schwartz GJ, Furth SL, Warady BA, Salusky IB
Clin J Am Soc Nephrol 2014 Feb;9(2):344-53. Epub 2013 Dec 5 doi: 10.2215/CJN.05840513. PMID: 24311704Free PMC Article
Ureña-Torres P, Metzger M, Haymann JP, Karras A, Boffa JJ, Flamant M, Vrtovsnik F, Gauci C, Froissart M, Houillier P, Stengel B; NephroTest Study Group
Am J Kidney Dis 2011 Oct;58(4):544-53. Epub 2011 Jul 31 doi: 10.1053/j.ajkd.2011.04.029. PMID: 21803465

Clinical prediction guides

Iida H, Kono T, Lee CC, Krishnan P, Arvin MC, Weaver SA, Jarvela TS, Branco RCS, McLaughlin MR, Bone RN, Tong X, Arvan P, Lindberg I, Evans-Molina C
Diabetologia 2023 Nov;66(11):2042-2061. Epub 2023 Aug 4 doi: 10.1007/s00125-023-05979-4. PMID: 37537395Free PMC Article
Lecoq AL, Chaumet-Riffaud P, Blanchard A, Dupeux M, Rothenbuhler A, Lambert B, Durand E, Boros E, Briot K, Silve C, Francou B, Piketty M, Chanson P, Brailly-Tabard S, Linglart A, Kamenický P
J Bone Miner Res 2020 Jul;35(7):1263-1273. Epub 2020 Mar 27 doi: 10.1002/jbmr.3992. PMID: 32101626
Hannan FM, Newey PJ, Whyte MP, Thakker RV
Br J Clin Pharmacol 2019 Jun;85(6):1147-1160. Epub 2018 Nov 28 doi: 10.1111/bcp.13803. PMID: 30357886Free PMC Article
Reid IR, Gamble GD, Bolland MJ
J Intern Med 2016 Jun;279(6):524-40. Epub 2016 Jan 8 doi: 10.1111/joim.12464. PMID: 26749423
Kumar R
Physiol Rev 1984 Apr;64(2):478-504. doi: 10.1152/physrev.1984.64.2.478. PMID: 6324253

Recent systematic reviews

Reid IR, Gamble GD, Bolland MJ
J Intern Med 2016 Jun;279(6):524-40. Epub 2016 Jan 8 doi: 10.1111/joim.12464. PMID: 26749423

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...