MCID: MNR003
MIFTS: 39

Mineral Metabolism Disease

Categories: Metabolic diseases

Aliases & Classifications for Mineral Metabolism Disease

MalaCards integrated aliases for Mineral Metabolism Disease:

Name: Mineral Metabolism Disease 12 15 17
Disorder of Mineral Metabolism 71
Mineral Metabolism Disorder 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050032
ICD10 32 E83 E83.8 E83.9
UMLS 71 C0154260

Summaries for Mineral Metabolism Disease

Disease Ontology : 12 An acquired metabolic disease that is characterized by abnormal mineral metabolism.

MalaCards based summary : Mineral Metabolism Disease, also known as disorder of mineral metabolism, is related to familial hypocalciuric hypercalcemia and vitamin d-dependent rickets, type 2a. An important gene associated with Mineral Metabolism Disease is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are G alpha (s) signalling events and Parathyroid hormone synthesis, secretion and action. The drugs Rifampicin and Antitubercular Agents have been mentioned in the context of this disorder. Affiliated tissues include kidney, bone and colon, and related phenotypes are homeostasis/metabolism and growth/size/body region

Related Diseases for Mineral Metabolism Disease

Diseases related to Mineral Metabolism Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 250)
# Related Disease Score Top Affiliating Genes
1 familial hypocalciuric hypercalcemia 31.6 PTHLH PTH CASR
2 vitamin d-dependent rickets, type 2a 31.3 VDR PHEX CYP27B1
3 hypophosphatasia 31.3 PTH PHEX FGF23 BGLAP
4 calciphylaxis 31.2 VDR PTH FGF23 CASR ALB
5 hypocalciuric hypercalcemia, familial, type i 31.2 PTH CASR
6 hypophosphatemic rickets with hypercalciuria, hereditary 31.2 SLC34A3 PTH PHEX GALNT3 FGF23
7 hypocalciuric hypercalcemia, familial, type iii 31.2 PTH CASR
8 hypophosphatemic rickets, x-linked recessive 31.1 VDR SLC34A3 PHEX FGF23 CYP27B1 CYP24A1
9 idiopathic hypercalciuria 31.1 VDR TNFSF11 SLC34A3 REN CASR BGLAP
10 hypophosphatemic rickets, x-linked dominant 31.0 SLC34A3 PTH PHEX KL GALNT3 FGF23
11 hypophosphatemic rickets, autosomal dominant 31.0 SLC34A3 PTH PHEX KL GALNT3 FGF23
12 autosomal recessive hypophosphatemic rickets 31.0 SLC34A3 PTH PHEX KL GALNT3 FGF23
13 calcinosis 30.8 PHEX KL GALNT3 FGF23 CALCA
14 diabetes insipidus 30.7 REN POMC CALCA
15 hypoparathyroidism 30.6 VDR PTHLH PTH FGF23 CASR CALCA
16 kidney disease 30.6 VDR SLC12A3 REN PTH FGF23 CYP27B1
17 diabetes insipidus, nephrogenic, autosomal 30.6 SLC12A3 REN KCNJ1 CASR
18 renal osteodystrophy 30.6 VDR TNFSF11 PTH FGF23 CASR CALCA
19 uremia 30.6 VDR REN PTH CASR ALB
20 pseudohypoparathyroidism 30.5 REN PTHLH PTH CALCA BGLAP
21 secondary hyperparathyroidism 30.5 VDR PTH PHEX KL FGF23 CYP27B1
22 bone disease 30.5 VDR TNFSF11 SLC34A3 PTHLH PTH PHEX
23 brittle bone disorder 30.5 TNFSF11 PTH PHEX CALCA BGLAP
24 hyperparathyroidism 30.5 VDR TNFSF11 PTHLH PTH PHEX KL
25 hyperphosphatemia 30.4 VDR PTH PHEX KL GALNT3 FGF23
26 chronic kidney disease 30.4 VDR TNFSF11 REN PTH POMC KL
27 rickets 30.3 VDR SLC34A3 PTH PHEX KL FGF23
28 osteoporosis 30.1 VDR TNFSF11 SLC12A3 PTHLH PTH KL
29 pediatric ovarian germ cell tumor 10.7 PTHLH PTH
30 pediatric ovarian dysgerminoma 10.7 PTHLH PTH
31 tracheal calcification 10.7 PTH KL FGF23
32 substernal goiter 10.7 PTH CALCA
33 conjunctival deposit 10.7 KL GALNT3 FGF23
34 acute adrenal insufficiency 10.7 REN POMC
35 kidney hypertrophy 10.7 REN KL ALB
36 paraneoplastic syndromes 10.7 PTHLH FGF23
37 spondylosis 10.7 VDR PTH KL
38 chronic pyelonephritis 10.7 REN CALCA ALB
39 parathyroid carcinoma 10.7 PTH CASR CALCA
40 colon neuroendocrine neoplasm 10.7 PTHLH POMC CALCA
41 orthostatic proteinuria 10.7 REN ALB
42 hypoaldosteronism 10.7 REN POMC
43 bone benign neoplasm 10.7 PTH FGF23 BGLAP
44 giant cell reparative granuloma 10.7 TNFSF11 PTH CALCA
45 pulmonary alveolar microlithiasis 10.7 SLC34A3 GALNT3 FGF23
46 oncogenic osteomalacia 10.7 PTHLH PTH PHEX FGF23
47 lactose intolerance 10.7 VDR PTH ALB
48 nontoxic goiter 10.7 PTH CALCA BGLAP
49 autonomic nervous system disease 10.7 REN CALCA ALB
50 ureteral disease 10.7 REN KL ALB

Graphical network of the top 20 diseases related to Mineral Metabolism Disease:



Diseases related to Mineral Metabolism Disease

Symptoms & Phenotypes for Mineral Metabolism Disease

MGI Mouse Phenotypes related to Mineral Metabolism Disease:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.36 ALB BGLAP CASR CYP24A1 CYP27B1 FGF23
2 growth/size/body region MP:0005378 10.35 CASR CYP24A1 CYP27B1 FGF23 GALNT3 KCNJ1
3 cardiovascular system MP:0005385 10.33 ALB FGF23 GALNT3 KCNJ1 KL PHEX
4 endocrine/exocrine gland MP:0005379 10.31 ALB BGLAP CASR CYP27B1 FGF23 GALNT3
5 hematopoietic system MP:0005397 10.3 BGLAP CASR CYP27B1 FGF23 GALNT3 KCNJ1
6 cellular MP:0005384 10.28 ALB BGLAP CASR CYP27B1 GALNT3 KL
7 immune system MP:0005387 10.25 ALB BGLAP CASR CYP27B1 FGF23 GALNT3
8 digestive/alimentary MP:0005381 10.16 ALB CASR FGF23 GALNT3 KL PHEX
9 craniofacial MP:0005382 10.13 CYP27B1 GALNT3 KL PHEX PTH PTHLH
10 integument MP:0010771 10.07 CASR CYP27B1 FGF23 GALNT3 KCNJ1 KL
11 mortality/aging MP:0010768 10.07 ALB CASR CYP24A1 FGF23 KCNJ1 KL
12 renal/urinary system MP:0005367 10.03 ALB CASR CYP24A1 CYP27B1 FGF23 GALNT3
13 limbs/digits/tail MP:0005371 9.97 CYP27B1 FGF23 GALNT3 KL PHEX PTH
14 reproductive system MP:0005389 9.65 BGLAP CYP24A1 CYP27B1 FGF23 GALNT3 KL
15 skeleton MP:0005390 9.44 BGLAP CASR CYP24A1 CYP27B1 FGF23 GALNT3

Drugs & Therapeutics for Mineral Metabolism Disease

Drugs for Mineral Metabolism Disease (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rifampicin Approved Phase 2 13292-46-1 5381226 5458213
2 Antitubercular Agents Phase 2
3 Anti-Infective Agents Phase 2
4 Anti-Bacterial Agents Phase 2
5 Calcium, Dietary Phase 2
6 Antibiotics, Antitubercular Phase 2
7
Calcium Nutraceutical Phase 2 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Inactivating Mutations in the CYP24A1 Gene Recruiting NCT03301038 Phase 2 Rifampin
2 Rifampin to Reduce Elevated Levels of Blood and Urine Calcium in Patients With Idiopathic Infantile Hypercalcemia Unknown status NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
3 Molecular and Cellular Mechanism of Vascular Ageing in Chronic Kidney Disease: Role of Theranova Dialyzer on Mineral Metabolism Disorder, Oxidative Stress, and Vascular Calcification Unknown status NCT03169400
4 Evaluation and Treatment of Bone and Mineral Disorders Recruiting NCT00024804
5 Metabolic Risk Factors and Stones Composition in Adult Kidney Stone Formers Recruiting NCT04243772

Search NIH Clinical Center for Mineral Metabolism Disease

Genetic Tests for Mineral Metabolism Disease

Anatomical Context for Mineral Metabolism Disease

MalaCards organs/tissues related to Mineral Metabolism Disease:

40
Kidney, Bone, Colon, Testes

Publications for Mineral Metabolism Disease

Articles related to Mineral Metabolism Disease:

(show all 24)
# Title Authors PMID Year
1
Biochemical Characteristics of Bone Mineral Metabolism before and throughout the First Year after Kidney Transplantation, Persistent Hyperparathyroidism, and Risk Factors in a Latin Population. 61
32256576 2020
2
Comparison of the effects of lanthanum carbonate and calcium carbonate on the progression of cardiac valvular calcification after initiation of hemodialysis. 61
32000687 2020
3
Pharmacologic Therapies for Aortic Stiffness in End-Stage Renal Disease: A Systematic Review and Meta-Analysis. 61
32128224 2020
4
High calcium diet alleviates 5/6 nephrectomy-induced bone deteriorations of lumbar vertebrae in mice. 61
29545872 2018
5
[Management of bone and mineral metabolism disorders before the dialysis stage remains still perfectible. Data from the French Phosphorus and Calcium Survey Photo-Graphe]. 61
28843391 2017
6
Biallelic mutations in CYP24A1 or SLC34A1 as a cause of infantile idiopathic hypercalcemia (IIH) with vitamin D hypersensitivity: molecular study of 11 historical IIH cases. 61
28470390 2017
7
Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder. 61
29069247 2017
8
Association of conjunctival and corneal calcification with vascular calcification among hepatitis-C-seropositive hemodialysis patients. 61
27900962 2016
9
Arterial stiffness and increased cardiovascular risk in chronic kidney disease. 61
25991557 2015
10
Microscopic nephrocalcinosis in chronic kidney disease patients. 61
25586405 2015
11
Correlation between conjunctival and corneal calcification and cardiovascular calcification in patients undergoing maintenance hemodialysis. 61
25377787 2015
12
Laboratory test surveillance following acute kidney injury. 61
25117447 2014
13
The role of parvovirus in the etiology of somatic pathology. 61
24214594 2013
14
The effects of diabetes mellitus and diabetic nephropathy on bone and mineral metabolism in T2DM patients. 61
23522918 2013
15
Serum phosphate and calcium should be primarily and consistently controlled in prevalent hemodialysis patients. 61
23551679 2013
16
[Kidney and bone update : the 5-year history and future of CKD-MBD. The changes after the introduction of CKD-MBD as a new entity]. 61
22750928 2012
17
What would we like to know, and what do we not know about fibroblast growth factor 23? 61
21786227 2011
18
Calcium carbonate, but not sevelamer, is associated with better outcomes in hemodialysis patients: results from the French ARNOS study. 61
22111816 2011
19
Idiopathic infantile hypercalcaemia in 5-month old girl. 61
21699761 2011
20
[Calciphylaxis in dialysis patients: To recognize and treat it as soon as possible]. 61
20627839 2010
21
The relation between the serum calcium level and the complication incidence in haemodialysis uremic patients. 61
20402315 2010
22
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 54
19179454 2009
23
[COLONIC TUMORS AND MINERAL METABOLISM DISORDER]. 61
14185844 1964
24
[Mineral metabolism disorder in the animal system as a complication of ultraviolet insufficiency]. 61
13490778 1957

Variations for Mineral Metabolism Disease

Expression for Mineral Metabolism Disease

Search GEO for disease gene expression data for Mineral Metabolism Disease.

Pathways for Mineral Metabolism Disease

GO Terms for Mineral Metabolism Disease

Cellular components related to Mineral Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.7 VDR SLC34A3 SLC12A3 PTH FGF23 CASR
2 extracellular region GO:0005576 9.65 TNFSF11 REN PTHLH PTH POMC KL
3 extracellular space GO:0005615 9.32 TNFSF11 REN PTHLH PTH POMC KL

Biological processes related to Mineral Metabolism Disease according to GeneCards Suite gene sharing:

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.88 PTHLH PTH POMC PHEX CALCA
2 skeletal system development GO:0001501 9.83 VDR PTHLH PTH PHEX BGLAP
3 cellular calcium ion homeostasis GO:0006874 9.8 VDR PTH CASR CALCA
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.79 KL GALNT3 FGF23
5 bone development GO:0060348 9.75 TNFSF11 PHEX BGLAP
6 regulation of blood pressure GO:0008217 9.74 REN POMC CALCA
7 bone mineralization GO:0030282 9.71 PTHLH PHEX CYP27B1 BGLAP
8 calcium ion homeostasis GO:0055074 9.67 TNFSF11 PTH KL CYP27B1
9 regulation of bone mineralization GO:0030500 9.63 FGF23 CYP27B1 BGLAP
10 regulation of osteoclast differentiation GO:0045670 9.62 TNFSF11 BGLAP
11 cellular response to parathyroid hormone stimulus GO:0071374 9.61 PHEX FGF23
12 response to fibroblast growth factor GO:0071774 9.6 PTH CASR
13 cellular phosphate ion homeostasis GO:0030643 9.59 SLC34A3 FGF23
14 vitamin metabolic process GO:0006766 9.58 CYP27B1 CYP24A1
15 phosphate ion homeostasis GO:0055062 9.56 PTH FGF23
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 KL FGF23
17 response to sodium phosphate GO:1904383 9.54 PHEX FGF23
18 vitamin D receptor signaling pathway GO:0070561 9.52 VDR CYP24A1
19 cAMP metabolic process GO:0046058 9.51 PTHLH PTH
20 vitamin D catabolic process GO:0042369 9.5 FGF23 CYP27B1 CYP24A1
21 cellular response to vitamin D GO:0071305 9.46 PHEX FGF23 CASR BGLAP
22 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 VDR FGF23 CYP27B1
23 vitamin D metabolic process GO:0042359 9.26 VDR FGF23 CYP27B1 CYP24A1
24 response to vitamin D GO:0033280 9.02 PTH PHEX CYP27B1 CYP24A1 BGLAP

Molecular functions related to Mineral Metabolism Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 peptide hormone receptor binding GO:0051428 9.16 PTHLH PTH
2 hormone activity GO:0005179 9.02 PTHLH PTH POMC KL CALCA
3 vitamin D binding GO:0005499 8.96 VDR KL

Sources for Mineral Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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