MCID: MNR003
MIFTS: 38

Mineral Metabolism Disease

Categories: Metabolic diseases
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Aliases & Classifications for Mineral Metabolism Disease

MalaCards integrated aliases for Mineral Metabolism Disease:

Name: Mineral Metabolism Disease 11 14 16
Disorder of Mineral Metabolism 71
Mineral Metabolism Disorder 53

Classifications:



External Ids:

Disease Ontology 11 DOID:0050032
ICD10 31 E83 E83.8 E83.9
UMLS 71 C0154260

Summaries for Mineral Metabolism Disease

Disease Ontology: 11 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 calcinosis and secondary hyperparathyroidism. An important gene associated with Mineral Metabolism Disease is CASR (Calcium Sensing Receptor), and among its related pathways/superpathways are Metabolism of proteins and Signal Transduction. Affiliated tissues include kidney and bone, and related phenotypes are homeostasis/metabolism and renal/urinary system

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 341)
# Related Disease Score Top Affiliating Genes
1 calcinosis 30.5 PHEX KL GALNT3 FGF23 CALCA
2 secondary hyperparathyroidism 30.2 VDR PTH KL FGF23 CYP27B1 CYP24A1
3 bone disease 30.2 VDR TNFSF11 PTHLH PTH PHEX FGF23
4 hyperparathyroidism 30.0 VDR TNFSF11 PTHLH PTH PHEX KL
5 tetanic cataract 10.5 PTH CALCA
6 childhood ovarian dysgerminoma 10.5 PTHLH PTH
7 secondary hyperparathyroidism of renal origin 10.5 PTH ALB
8 childhood ovarian germ cell tumor 10.5 PTHLH PTH
9 substernal goiter 10.5 PTH CALCA
10 vitamin d-dependent rickets type 2b 10.5 FGF23 CYP27B1
11 subacute glomerulonephritis 10.5 POMC ALB
12 gorham's disease 10.5 TNFSF11 PTH CALCA
13 kohler's disease 10.5 PTH CALCA
14 paraneoplastic syndromes 10.5 PTHLH FGF23
15 giant cell reparative granuloma 10.5 TNFSF11 PTH CALCA
16 autonomic neuropathy 10.5 REN INS ALB
17 hyperostosis 10.5 KL GALNT3 FGF23
18 bartter syndrome, type 3 10.5 SLC12A3 REN CASR
19 mediastinum teratoma 10.5 POMC ACE
20 pyelonephritis 10.5 CALCA ALB ACE
21 renal tuberculosis 10.5 REN ALB
22 nontoxic goiter 10.5 PTH CALCA BGLAP
23 orthostatic proteinuria 10.5 REN ALB ACE
24 familial hypocalciuric hypercalcemia 10.5 PTHLH PTH CASR CALCA
25 pseudohypoparathyroidism, type ia 10.5 PTHLH PTH POMC
26 multiple endocrine neoplasia 10.5 PTH POMC CALCA
27 hypercalciuria, absorptive, 2 10.5 VDR SLC34A3 CASR
28 renal artery atheroma 10.5 REN ALB ACE
29 kidney papillary necrosis 10.5 REN ALB ACE
30 hypertensive retinopathy 10.5 REN ALB ACE
31 parathyroid carcinoma 10.5 PTH CASR CALCA
32 hypertensive encephalopathy 10.5 REN ALB ACE
33 paralytic ileus 10.5 INS CALCA ALB
34 constrictive pericarditis 10.5 REN ALB ACE
35 renal artery obstruction 10.5 REN ACE
36 supine hypotensive syndrome 10.5 REN INS ALB
37 isthmus cancer 10.5 PTH CALCA
38 hyperlipoproteinemia, type v 10.5 KL INS FGF23
39 scleredema adultorum 10.5 PTH POMC INS
40 gitelman syndrome 10.5 SLC12A3 REN CASR
41 skin atrophy 10.5 POMC KL FGF23
42 adenoma 10.5 REN PTH POMC CASR
43 malignant ovarian brenner tumor 10.5 TNFSF11 PTHLH PTH CALCA
44 pulmonary alveolar microlithiasis 10.5 SLC34A3 GALNT3 FGF23
45 palmoplantar keratoderma, punctate type iii 10.5 PTH POMC
46 non-severe covid-19 10.5 REN ALB ACE
47 premenstrual tension 10.5 REN POMC
48 enchondromatosis, multiple, ollier type 10.5 TNFSF11 PTHLH PTH
49 severe covid-19 10.5 REN ALB ACE
50 hypoaldosteronism 10.5 REN POMC ACE

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



Diseases related to Mineral Metabolism Disease

Symptoms & Phenotypes for Mineral Metabolism Disease

GenomeRNAi Phenotypes related to Mineral Metabolism Disease according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 ACE ALB BGLAP CALCA CASR CYP24A1
2 no effect GR00402-S-2 10.2 ACE ALB BGLAP CALCA CASR CYP24A1

MGI Mouse Phenotypes related to Mineral Metabolism Disease:

45 (show all 17)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.52 ACE ALB BGLAP CALCA CASR CYP24A1
2 renal/urinary system MP:0005367 10.5 ACE ALB CALCA CASR CYP24A1 CYP27B1
3 growth/size/body region MP:0005378 10.41 ACE CASR CYP24A1 CYP27B1 FGF23 GALNT3
4 endocrine/exocrine gland MP:0005379 10.37 ACE ALB BGLAP CASR CYP27B1 FGF23
5 immune system MP:0005387 10.27 ACE ALB BGLAP CASR CYP27B1 FGF23
6 cellular MP:0005384 10.25 ACE ALB BGLAP CASR CYP27B1 GALNT3
7 cardiovascular system MP:0005385 10.25 ACE ALB CALCA FGF23 GALNT3 INS
8 limbs/digits/tail MP:0005371 10.2 CYP27B1 FGF23 GALNT3 KL PHEX PTH
9 digestive/alimentary MP:0005381 10.18 ALB CASR FGF23 GALNT3 INS KL
10 muscle MP:0005369 10.16 ALB CASR GALNT3 INS KL REN
11 adipose tissue MP:0005375 10.14 ACE BGLAP CYP27B1 INS KL PHEX
12 reproductive system MP:0005389 10.13 ACE BGLAP CASR CYP24A1 CYP27B1 FGF23
13 skeleton MP:0005390 10.13 BGLAP CALCA CASR CYP24A1 CYP27B1 FGF23
14 craniofacial MP:0005382 10.06 CYP27B1 GALNT3 KL PHEX PTH PTHLH
15 hematopoietic system MP:0005397 10.03 ACE BGLAP CASR CYP27B1 FGF23 GALNT3
16 mortality/aging MP:0010768 9.83 ACE ALB CALCA CASR CYP24A1 FGF23
17 integument MP:0010771 9.36 CALCA CASR CYP27B1 FGF23 GALNT3 INS

Drugs & Therapeutics for Mineral Metabolism Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Parenteral Nutrition in Premature Infants Weighing Less Than 1500 g Using Numeta G13% From the First Day of Life. A Prospective, Open-labeled Study on Intakes and Nutritional Markers. Unknown status NCT01772927
2 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
3 Acute Changes in the Mineral Metabolism After a High Phosphorous Containing Meal in Dialysis Patients - a Randomized Cross-over Trial Completed NCT03868371
4 Diurnal Variation in Markers of Mineral and Bone Disease in Chronic Kidney Disease - An Observational Study Completed NCT03698422

Search NIH Clinical Center for Mineral Metabolism Disease

Genetic Tests for Mineral Metabolism Disease

Anatomical Context for Mineral Metabolism Disease

Organs/tissues related to Mineral Metabolism Disease:

MalaCards : Kidney, Bone

Publications for Mineral Metabolism Disease

Articles related to Mineral Metabolism Disease:

(show all 27)
# Title Authors PMID Year
1
Increase of renal resistive index and mineral metabolism disorder in patients with acute coronary syndrome with preserved renal function. 62
33275237 2020
2
Mineral and bone disorder biomarkers and inflammation indexes in patients with end stage renal disease. 62
33302656 2020
3
Comparison of the effects of lanthanum carbonate and calcium carbonate on the progression of cardiac valvular calcification after initiation of hemodialysis. 62
32000687 2020
4
Biochemical Characteristics of Bone Mineral Metabolism before and throughout the First Year after Kidney Transplantation, Persistent Hyperparathyroidism, and Risk Factors in a Latin Population. 62
32256576 2020
5
Pharmacologic Therapies for Aortic Stiffness in End-Stage Renal Disease: A Systematic Review and Meta-Analysis. 62
32128224 2020
6
High calcium diet alleviates 5/6 nephrectomy-induced bone deteriorations of lumbar vertebrae in mice. 62
29545872 2018
7
[Management of bone and mineral metabolism disorders before the dialysis stage remains still perfectible. Data from the French Phosphorus and Calcium Survey Photo-Graphe]. 62
28843391 2017
8
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. 62
28470390 2017
9
Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder. 62
29069247 2017
10
Association of conjunctival and corneal calcification with vascular calcification among hepatitis-C-seropositive hemodialysis patients. 62
27900962 2016
11
Arterial stiffness and increased cardiovascular risk in chronic kidney disease. 62
25991557 2015
12
Microscopic nephrocalcinosis in chronic kidney disease patients. 62
25586405 2015
13
Correlation between conjunctival and corneal calcification and cardiovascular calcification in patients undergoing maintenance hemodialysis. 62
25377787 2015
14
Laboratory test surveillance following acute kidney injury. 62
25117447 2014
15
The role of parvovirus in the etiology of somatic pathology. 62
24214594 2013
16
The effects of diabetes mellitus and diabetic nephropathy on bone and mineral metabolism in T2DM patients. 62
23522918 2013
17
Serum phosphate and calcium should be primarily and consistently controlled in prevalent hemodialysis patients. 62
23551679 2013
18
[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]. 62
22750928 2012
19
What would we like to know, and what do we not know about fibroblast growth factor 23? 62
21786227 2011
20
Calcium carbonate, but not sevelamer, is associated with better outcomes in hemodialysis patients: results from the French ARNOS study. 62
22111816 2011
21
Idiopathic infantile hypercalcaemia in 5-month old girl. 62
21699761 2011
22
[Calciphylaxis in dialysis patients: To recognize and treat it as soon as possible]. 62
20627839 2010
23
The relation between the serum calcium level and the complication incidence in haemodialysis uremic patients. 62
20402315 2010
24
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 53
19179454 2009
25
[COLONIC TUMORS AND MINERAL METABOLISM DISORDER]. 62
14185844 1964
26
[Mineral metabolism disorder in the animal system as a complication of ultraviolet insufficiency]. 62
13490778 1957
27
Skeletal disease in mineral metabolism disorder. 62
20253876 1947

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

Pathways related to Mineral Metabolism Disease according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.78 VDR REN POMC INS GALNT3 FGF23
2 13.59 CALCA CASR FGF23 GALNT3 INS KL
3
Show member pathways
12.41 VDR POMC INS CYP27B1 CYP24A1 ALB
4 12.08 BGLAP CYP24A1 CYP27B1 FGF23 KL PTH
5
Show member pathways
12.01 REN POMC INS ACE
6
Show member pathways
11.96 PTHLH PTH POMC CALCA
7
Show member pathways
11.76 ACE CYP24A1 REN VDR
8 11.71 PTH INS BGLAP
9 11.62 TNFSF11 PTH CALCA
10 11.42 KL FGF23 BGLAP
11 11.38 VDR CYP27B1 CYP24A1
12 11.25 VDR TNFSF11 PTHLH PTH BGLAP
13 11.15 VDR CYP27B1 CYP24A1
14 11.15 VDR TNFSF11 PTH CYP27B1 CYP24A1 CALCA
15 10.62 VDR PTH CYP27B1 CYP24A1

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 extracellular region GO:0005576 10.03 ACE ALB BGLAP CALCA FGF23 INS
2 extracellular space GO:0005615 9.68 TNFSF11 REN PTHLH PTH POMC KL

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 10.38 VDR TNFSF11 PTH INS FGF23 CASR
2 aging GO:0007568 10.21 KL CALCA BGLAP ACE
3 cell-cell signaling GO:0007267 10.2 PTHLH PTH POMC PHEX INS CALCA
4 skeletal system development GO:0001501 10.18 BGLAP PHEX PTH PTHLH VDR
5 cellular calcium ion homeostasis GO:0006874 10.11 CALCA CASR PTH VDR
6 positive regulation of bone mineralization GO:0030501 10.07 VDR PTH KL
7 ossification GO:0001503 10.07 TNFSF11 CASR CALCA BGLAP
8 regulation of blood pressure GO:0008217 10.04 REN POMC CALCA ACE
9 vasodilation GO:0042311 9.97 INS CASR CALCA
10 bone mineralization GO:0030282 9.96 BGLAP CYP27B1 PHEX PTH PTHLH
11 regulation of bone mineralization GO:0030500 9.91 FGF23 CYP27B1 BGLAP
12 vitamin metabolic process GO:0006766 9.9 CYP24A1 CYP27B1
13 positive regulation of vitamin D receptor signaling pathway GO:0070564 9.88 VDR CYP27B1
14 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.86 KL FGF23
15 cAMP metabolic process GO:0046058 9.85 PTHLH PTH
16 vitamin D catabolic process GO:0042369 9.85 FGF23 CYP27B1 CYP24A1
17 vitamin D receptor signaling pathway GO:0070561 9.84 VDR CYP24A1
18 vitamin D metabolic process GO:0042359 9.83 FGF23 CYP27B1 CYP24A1
19 calcium ion homeostasis GO:0055074 9.81 TNFSF11 PTH KL FGF23 CYP27B1
20 response to fibroblast growth factor GO:0071774 9.8 CASR KL PTH
21 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.8 VDR FGF23 CYP27B1
22 cellular response to vitamin D GO:0071305 9.61 PHEX FGF23 CYP24A1 CASR BGLAP
23 response to vitamin D GO:0033280 9.36 PTH PHEX KL CYP27B1 CYP24A1 BGLAP

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.4 PTHLH PTH POMC KL INS CALCA

Sources for Mineral Metabolism Disease

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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