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Hypercalcemia, infantile, 2(HCINF2)

MedGen UID:
934441
•Concept ID:
C4310473
•
Disease or Syndrome
Synonym: HCINF2
 
Gene (location): SLC34A1 (5q35.3)
 
Monarch Initiative: MONDO:0014851
OMIM®: 616963

Definition

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880). [from OMIM]

Clinical features

From HPO
Hypercalciuria
MedGen UID:
43775
•Concept ID:
C0020438
•
Finding
Abnormally high level of calcium in the urine.
See: Feature record | Search on this feature
Nephrocalcinosis
MedGen UID:
10222
•Concept ID:
C0027709
•
Disease or Syndrome
Nephrocalcinosis is the deposition of calcium salts in renal parenchyma.
See: Feature record | Search on this feature
Polyuria
MedGen UID:
19404
•Concept ID:
C0032617
•
Sign or Symptom
An increased rate of urine production.
See: Feature record | Search on this feature
Medullary nephrocalcinosis
MedGen UID:
588418
•Concept ID:
C0403477
•
Disease or Syndrome
The deposition of calcium salts in the parenchyma of the renal medulla (innermost part of the kidney).
See: Feature record | Search on this feature
Renal phosphate wasting
MedGen UID:
335116
•Concept ID:
C1845169
•
Finding
High urine phosphate in the presence of hypophosphatemia.
See: Feature record | Search on this feature
Failure to thrive
MedGen UID:
746019
•Concept ID:
C2315100
•
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
See: Feature record | Search on this feature
Hypotonia
MedGen UID:
10133
•Concept ID:
C0026827
•
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
See: Feature record | Search on this feature
Hypercalcemia
MedGen UID:
5686
•Concept ID:
C0020437
•
Disease or Syndrome
An abnormally increased calcium concentration in the blood.
See: Feature record | Search on this feature
Hypophosphatemia
MedGen UID:
39327
•Concept ID:
C0085682
•
Disease or Syndrome
An abnormally decreased phosphate concentration in the blood.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

An infant developing hypercalcemia and hypophosphatemia due to the use of exclusively almond milk.
Salama M, Tebben PJ, Al Nofal A
J Pediatr Endocrinol Metab 2024 Apr 25;37(4):375-379. Epub 2024 Feb 29 doi: 10.1515/jpem-2023-0494. PMID: 38414167
Early vs late initiation of sodium glycerophosphate: Impact on hypophosphatemia in preterm infants <32 weeks.
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article

Diagnosis

Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant.
Zheng Z, Wu Y, Wu H, Jin J, Luo Y, Cao S, Shan X
J Pediatr Endocrinol Metab 2023 Nov 27;36(11):999-1011. Epub 2023 Sep 29 doi: 10.1515/jpem-2023-0147. PMID: 37768904
Genetic causes of neonatal and infantile hypercalcaemia.
Gorvin CM
Pediatr Nephrol 2022 Feb;37(2):289-301. Epub 2021 May 14 doi: 10.1007/s00467-021-05082-z. PMID: 33990852Free PMC Article
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Analysis of vitamin D(3) metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
Kowalska E, Rola R, Wójcik M, Łaszcz N, Płudowski P, Wierzbicka A, Janiec A, Książyk J, Halat P, Ciara E, Obrycki Ł, Pronicka E, Litwin M
J Steroid Biochem Mol Biol 2021 Apr;208:105824. Epub 2021 Jan 28 doi: 10.1016/j.jsbmb.2021.105824. PMID: 33516786
Presymptomatic diagnosis of CYP24A1-related infantile idiopathic hypercalcemia: A case report.
Mirea AM, Pop RM, Căinap SS, Trifa AP
Eur J Med Genet 2020 Dec;63(12):104100. Epub 2020 Nov 10 doi: 10.1016/j.ejmg.2020.104100. PMID: 33186763

Therapy

Clinical heterogeneity and therapeutic options for idiopathic infantile hypercalcemia caused by CYP24A1 pathogenic variant.
Zheng Z, Wu Y, Wu H, Jin J, Luo Y, Cao S, Shan X
J Pediatr Endocrinol Metab 2023 Nov 27;36(11):999-1011. Epub 2023 Sep 29 doi: 10.1515/jpem-2023-0147. PMID: 37768904
Rifampin monotherapy for children with idiopathic infantile hypercalcemia.
Lenherr-Taube N, Furman M, Assor E, Thummel K, Levine MA, Sochett E
J Steroid Biochem Mol Biol 2023 Jul;231:106301. Epub 2023 Mar 27 doi: 10.1016/j.jsbmb.2023.106301. PMID: 36990163Free PMC Article
Early vs late initiation of sodium glycerophosphate: Impact on hypophosphatemia in preterm infants <32 weeks.
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Analysis of vitamin D(3) metabolites in survivors of infantile idiopathic hypercalcemia caused by CYP24A1 mutation or SLC34A1 mutation.
Kowalska E, Rola R, Wójcik M, Łaszcz N, Płudowski P, Wierzbicka A, Janiec A, Książyk J, Halat P, Ciara E, Obrycki Ł, Pronicka E, Litwin M
J Steroid Biochem Mol Biol 2021 Apr;208:105824. Epub 2021 Jan 28 doi: 10.1016/j.jsbmb.2021.105824. PMID: 33516786

Prognosis

Early vs late initiation of sodium glycerophosphate: Impact on hypophosphatemia in preterm infants <32 weeks.
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Prenatal hyperechogenic kidneys in three cases of infantile hypercalcemia associated with SLC34A1 mutations.
Hureaux M, Molin A, Jay N, Saliou AH, Spaggiari E, Salomon R, Benachi A, Vargas-Poussou R, Heidet L
Pediatr Nephrol 2018 Oct;33(10):1723-1729. Epub 2018 Jun 29 doi: 10.1007/s00467-018-3998-z. PMID: 29959532
THE CHANGING INCIDENCE OF RICKETS AND INFANTILE HYPERCALCAEMIA AS SEEN IN DUNDEE.
STEWART WK, MITCHELL RG, MORGAN HG, LOWE KG, THOMSON J
Lancet 1964 Mar 28;1(7335):679-82. doi: 10.1016/s0140-6736(64)91516-8. PMID: 14107954

Clinical prediction guides

3' Untranslated Region Structural Elements in CYP24A1 Are Associated With Infantile Hypercalcemia Type 1.
Ball N, Duncan S, Zhang Y, Payet R, Piec I, Whittle E, Tang JCY, Schoenmakers I, Lopez B, Chipchase A, Kumar A, Perry L, Maxwell H, Ding Y, Fraser WD, Green D
J Bone Miner Res 2023 Mar;38(3):414-426. Epub 2023 Jan 23 doi: 10.1002/jbmr.4769. PMID: 36625425
Early vs late initiation of sodium glycerophosphate: Impact on hypophosphatemia in preterm infants <32 weeks.
Ozer Bekmez B, Oguz SS
Clin Nutr 2022 Feb;41(2):415-423. Epub 2021 Dec 10 doi: 10.1016/j.clnu.2021.12.011. PMID: 35007810
Mild Idiopathic Infantile Hypercalcemia-Part 2: A Longitudinal Observational Study.
Lenherr-Taube N, Furman M, Assor E, Elia Y, Collins C, Thummel K, Levine MA, Sochett E
J Clin Endocrinol Metab 2021 Sep 27;106(10):2938-2948. doi: 10.1210/clinem/dgab432. PMID: 34139759Free PMC Article
Switch in FGFR3 and -4 expression profile during human renal development may account for transient hypercalcemia in patients with Sotos syndrome due to 5q35 microdeletions.
Mutsaers HA, Levtchenko EN, Martinerie L, Pertijs JC, Allegaert K, Devriendt K, Masereeuw R, Monnens LA, Lombès M
J Clin Endocrinol Metab 2014 Jul;99(7):E1361-7. Epub 2014 Mar 26 doi: 10.1210/jc.2014-1123. PMID: 24670087Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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