U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Low serum calcitriol

MedGen UID:
868663
Concept ID:
C4023065
Finding
Synonyms: Low serum 1,25-dihydroxycholecalciferol; Low serum 1,25-dihydroxyvitamin D3
 
HPO: HP:0012052

Definition

A reduced concentration of calcitriol in the blood. Calcitriol is also known as 1,25-dihydroxycholecalciferol or 1,25-dihydroxyvitamin D3. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Low serum calcitriol

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).
Vitamin D-dependent rickets, type 1
MedGen UID:
124344
Concept ID:
C0268689
Disease or Syndrome
Vitamin D-dependent rickets is a disorder of bone development that leads to softening and weakening of the bones (rickets). There are several forms of the condition that are distinguished primarily by their genetic causes: type 1A (VDDR1A), type 1B (VDDR1B), and type 2A (VDDR2A). There is also evidence of a very rare form of the condition, called type 2B (VDDR2B), although not much is known about this form.\n\nThe signs and symptoms of vitamin D-dependent rickets begin within months after birth, and most are the same for all types of the condition. The weak bones often cause bone pain and delayed growth and have a tendency to fracture. When affected children begin to walk, they may develop abnormally curved (bowed) legs because the bones are too weak to bear weight. Impaired bone development also results in widening of the areas near the ends of bones where new bone forms (metaphyses), especially in the knees, wrists, and ribs. Some people with vitamin D-dependent rickets have dental abnormalities such as thin tooth enamel and frequent cavities. Poor muscle tone (hypotonia) and muscle weakness are also common in this condition, and some affected individuals develop seizures.\n\nIn vitamin D-dependent rickets, there is an imbalance of certain substances in the blood. An early sign in all types of the condition is low levels of the mineral calcium (hypocalcemia), which is essential for the normal formation of bones and teeth. Affected individuals also develop high levels of a hormone involved in regulating calcium levels called parathyroid hormone (PTH), which leads to a condition called secondary hyperparathyroidism. Low levels of a mineral called phosphate (hypophosphatemia) also occur in affected individuals. Vitamin D-dependent rickets types 1 and 2 can be grouped by blood levels of a hormone called calcitriol, which is the active form of vitamin D; individuals with VDDR1A and VDDR1B have abnormally low levels of calcitriol and individuals with VDDR2A and VDDR2B have abnormally high levels.\n\nHair loss (alopecia) can occur in VDDR2A, although not everyone with this form of the condition has alopecia. Affected individuals can have sparse or patchy hair or no hair at all on their heads. Some affected individuals are missing body hair as well.
Vitamin D-dependent rickets, type 3
MedGen UID:
1725534
Concept ID:
C5436733
Disease or Syndrome
Vitamin D-dependent rickets-3 (VDDR3) is characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D (Roizen et al., 2018). For discussion of genetic heterogeneity of vitamin D-dependent rickets, see 264700.

Professional guidelines

PubMed

Castro A, Oleaga A, Parente Arias P, Paja M, Gil Carcedo E, Álvarez Escolá C
Acta Otorrinolaringol Esp (Engl Ed) 2019 Sep-Oct;70(5):301-305. Epub 2019 Aug 4 doi: 10.1016/j.otorri.2019.04.001. PMID: 31387688
Castro A, Oleaga A, Parente Arias P, Paja M, Gil Carcedo E, Álvarez Escolá C
Endocrinol Diabetes Nutr (Engl Ed) 2019 Aug-Sep;66(7):459-463. Epub 2019 Jun 8 doi: 10.1016/j.endinu.2019.03.015. PMID: 31182347
Khan AA, Clarke B, Rejnmark L, Brandi ML
Eur J Endocrinol 2019 Feb 1;180(2):R37-R44. doi: 10.1530/EJE-18-0541. PMID: 30444723

Recent clinical studies

Etiology

Zittermann A, Schleithoff SS, Götting C, Dronow O, Fuchs U, Kuhn J, Kleesiek K, Tenderich G, Koerfer R
Eur J Heart Fail 2008 Mar;10(3):321-7. Epub 2008 Mar 4 doi: 10.1016/j.ejheart.2008.01.013. PMID: 18304873
Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MJ, Oudet CL
Genomics 2000 Jul 1;67(1):54-68. doi: 10.1006/geno.2000.6235. PMID: 10945470
Prince RL, Hutchison BG, Kent JC, Kent GN, Retallack RW
Kidney Int 1988 Mar;33(3):722-8. doi: 10.1038/ki.1988.58. PMID: 2835540

Diagnosis

Pickering ME, Bouvier D, Puravet A, Soubrier M, Sapin V, Oris C
Clin Biochem 2022 Jun;104:62-65. Epub 2022 Mar 22 doi: 10.1016/j.clinbiochem.2022.03.006. PMID: 35337828
Rowe PS, de Zoysa PA, Dong R, Wang HR, White KE, Econs MJ, Oudet CL
Genomics 2000 Jul 1;67(1):54-68. doi: 10.1006/geno.2000.6235. PMID: 10945470
Edelson GW, Shih MS, Parfitt AM
Bone 1993 Sep-Oct;14(5):707-10. doi: 10.1016/8756-3282(93)90200-t. PMID: 8268043

Therapy

Imseis RE, Palmieri GM, Holbert JM, Leventhal MR, Sebes JI
Am J Med Sci 1999 Jul;318(1):61-6. doi: 10.1097/00000441-199907000-00010. PMID: 10408763
Edelson GW, Shih MS, Parfitt AM
Bone 1993 Sep-Oct;14(5):707-10. doi: 10.1016/8756-3282(93)90200-t. PMID: 8268043
Prince RL, Hutchison BG, Kent JC, Kent GN, Retallack RW
Kidney Int 1988 Mar;33(3):722-8. doi: 10.1038/ki.1988.58. PMID: 2835540

Prognosis

Zittermann A, Schleithoff SS, Götting C, Dronow O, Fuchs U, Kuhn J, Kleesiek K, Tenderich G, Koerfer R
Eur J Heart Fail 2008 Mar;10(3):321-7. Epub 2008 Mar 4 doi: 10.1016/j.ejheart.2008.01.013. PMID: 18304873

Clinical prediction guides

Zittermann A, Schleithoff SS, Götting C, Dronow O, Fuchs U, Kuhn J, Kleesiek K, Tenderich G, Koerfer R
Eur J Heart Fail 2008 Mar;10(3):321-7. Epub 2008 Mar 4 doi: 10.1016/j.ejheart.2008.01.013. PMID: 18304873
Imseis RE, Palmieri GM, Holbert JM, Leventhal MR, Sebes JI
Am J Med Sci 1999 Jul;318(1):61-6. doi: 10.1097/00000441-199907000-00010. PMID: 10408763

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.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...