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disorder of calcium metabolism

MedGen UID:
714
•Concept ID:
C0006705
•
Disease or Syndrome
Synonyms: Calcium Metabolism Disorder; Calcium Metabolism Disorders; Disorder, Calcium Metabolism; Disorders, Calcium Metabolism
SNOMED CT: Disorder of calcium metabolism (71638002); Calcium metabolism disorder (71638002)
 
Monarch Initiative: MONDO:0005557

Definition

Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVdisorder of calcium metabolism

Professional guidelines

PubMed

Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992

Recent clinical studies

Etiology

Clinical Characteristics of Primary Hyperparathyroidism: 15-Year Experience of 457 Patients in a Single Center in China.
Lin X, Fan Y, Zhang Z, Yue H
Front Endocrinol (Lausanne) 2021;12:602221. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.602221. PMID: 33716964Free PMC Article
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S
Sci Rep 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. PMID: 33536578Free PMC Article
Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992
Morphological and quantitative analysis of cerebellar cortical cells in Alzheimer's disease.
Stępień T, Wierzba-Bobrowicz T, Lewandowska E, Szpak G
Folia Neuropathol 2012;50(3):250-60. PMID: 23023339
Effect of parathyroid extract on renal cyclic AMP excretion in patients with normocalciuric nephrolithiasis.
v Lilienfeld-Toal H, Mackes KG, Klehr U, Dengler HJ
Horm Metab Res 1978 Mar;10(2):158-61. doi: 10.1055/s-0028-1093466. PMID: 206501

Diagnosis

Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S
Sci Rep 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. PMID: 33536578Free PMC Article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S
PLoS One 2020;15(9):e0239965. Epub 2020 Sep 30 doi: 10.1371/journal.pone.0239965. PMID: 32997713Free PMC Article
Hyperparathyroidism.
Bilezikian JP, Bandeira L, Khan A, Cusano NE
Lancet 2018 Jan 13;391(10116):168-178. Epub 2017 Sep 17 doi: 10.1016/S0140-6736(17)31430-7. PMID: 28923463
Morphological and quantitative analysis of cerebellar cortical cells in Alzheimer's disease.
Stępień T, Wierzba-Bobrowicz T, Lewandowska E, Szpak G
Folia Neuropathol 2012;50(3):250-60. PMID: 23023339
Dynamic investigation for evaluation of calcium metabolism and parathyroid function.
Cioppi F, Falchetti A, Masi L, Brandi ML
J Endocrinol Invest 2003;26(7 Suppl):83-91. PMID: 14604070

Therapy

Advances in the treatment of hypoparathyroidism with PTH 1-34.
Winer KK
Bone 2019 Mar;120:535-541. Epub 2018 Sep 21 doi: 10.1016/j.bone.2018.09.018. PMID: 30243992

Clinical prediction guides

Clinical Characteristics of Primary Hyperparathyroidism: 15-Year Experience of 457 Patients in a Single Center in China.
Lin X, Fan Y, Zhang Z, Yue H
Front Endocrinol (Lausanne) 2021;12:602221. Epub 2021 Feb 25 doi: 10.3389/fendo.2021.602221. PMID: 33716964Free PMC Article
Five patients with disorders of calcium metabolism presented with GCM2 gene variants.
García-Castaño A, Madariaga L, Gómez-Conde S, Cordo CLR, López-Iglesias M, Garcia-Fernández Y, Martín A, González P, Goicolea I, de Nanclares GP, De la Hoz AB, Aguayo A, de LaPiscina IM, Martínez R, Saso L, Urrutia I, Velasco O, Castaño L, Gaztambide S
Sci Rep 2021 Feb 3;11(1):2968. doi: 10.1038/s41598-021-82661-y. PMID: 33536578Free PMC Article
Novel variant in the CNNM2 gene associated with dominant hypomagnesemia.
García-Castaño A, Madariaga L, Antón-Gamero M, Mejia N, Ponce J, Gómez-Conde S, Pérez de Nanclares G, De la Hoz AB, Martínez R, Saso L, Martínez de LaPiscina I, Urrutia I, Velasco O, Aguayo A, Castaño L, Gaztambide S
PLoS One 2020;15(9):e0239965. Epub 2020 Sep 30 doi: 10.1371/journal.pone.0239965. PMID: 32997713Free PMC Article
Morphological and quantitative analysis of cerebellar cortical cells in Alzheimer's disease.
Stępień T, Wierzba-Bobrowicz T, Lewandowska E, Szpak G
Folia Neuropathol 2012;50(3):250-60. PMID: 23023339
Diagnostic procedures in disorders of calcium metabolism.
Nordin BE
Clin Endocrinol (Oxf) 1978 Jan;8(1):55-67. doi: 10.1111/j.1365-2265.1978.tb01350.x. PMID: 342147

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