MCID: MNR003
MIFTS: 35

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 70
Mineral Metabolism Disorder 54

Classifications:



External Ids:

Disease Ontology 12 DOID:0050032
ICD10 32 E83 E83.8 E83.9
UMLS 70 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 calcinosis and secondary hyperparathyroidism. 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. Affiliated tissues include kidney, and related phenotypes are Decreased viability and Decreased viability

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 211)
# Related Disease Score Top Affiliating Genes
1 calcinosis 30.5 PHEX KL GALNT3 FGF23 CALCA
2 secondary hyperparathyroidism 30.0 VDR PTH PHEX KL FGF23 CYP27B1
3 hyperparathyroidism 29.9 VDR TNFSF11 PTHLH PTH PHEX KL
4 pediatric ovarian germ cell tumor 10.5 PTHLH PTH
5 pediatric ovarian dysgerminoma 10.5 PTHLH PTH
6 substernal goiter 10.5 PTH CALCA
7 tracheal calcification 10.5 PTH KL FGF23
8 paraneoplastic syndromes 10.5 PTHLH FGF23
9 acute adrenal insufficiency 10.5 REN POMC
10 subacute glomerulonephritis 10.5 POMC ALB
11 ankylosing spondylitis 1 10.5 FGF23 ALB
12 orthostatic proteinuria 10.5 REN ALB
13 conjunctival deposit 10.5 KL GALNT3 FGF23
14 blount's disease 10.5 SLC34A3 FGF23
15 hypoaldosteronism 10.5 REN POMC
16 chronic pyelonephritis 10.5 REN CALCA ALB
17 parathyroid carcinoma 10.5 PTH CASR CALCA
18 autonomic nervous system disease 10.5 REN CALCA ALB
19 kummell's disease 10.5 TNFSF11 CALCA
20 hepatocellular clear cell carcinoma 10.5 VDR KL FGF23
21 pulmonary alveolar microlithiasis 10.5 SLC34A3 GALNT3 FGF23
22 chondrocalcinosis 10.5 SLC12A3 REN CASR
23 skin atrophy 10.5 KL FGF23 CYP27B1
24 ureteral disease 10.5 REN KL ALB
25 multiple endocrine neoplasia, type iia 10.5 PTH CASR CALCA
26 spondylosis 10.5 VDR PTH KL
27 benign essential hypertension 10.5 REN POMC ALB
28 multiple endocrine neoplasia 10.5 PTH POMC CALCA
29 giant cell reparative granuloma 10.5 TNFSF11 PTH CALCA
30 inappropriate adh syndrome 10.5 REN POMC ALB
31 nontoxic goiter 10.5 PTH CALCA BGLAP
32 thyroid gland medullary carcinoma 10.5 PTH POMC CALCA
33 oncogenic osteomalacia 10.5 PTHLH PTH PHEX FGF23
34 bone giant cell tumor 10.5 TNFSF11 PTH CALCA
35 opsismodysplasia 10.5 PHEX FGF23
36 bartter syndrome, type 1, antenatal 10.5 SLC12A3 KCNJ1 CASR
37 osseous heteroplasia, progressive 10.5 PTHLH PTH BGLAP
38 renal hypertension 10.5 SLC12A3 REN ALB
39 tuberculous epididymitis 10.5 POMC CYP27B1
40 premenstrual tension 10.5 REN POMC
41 vitamin d-dependent rickets, type 2a 10.5 VDR PHEX CYP27B1
42 ectopic cushing syndrome 10.5 POMC CALCA
43 adenoma 10.5 REN PTH POMC CASR
44 urinary tract obstruction 10.5 REN KL ALB
45 nevus, epidermal 10.5 PHEX GALNT3 FGF23
46 nephrolithiasis/osteoporosis, hypophosphatemic, 1 10.5 SLC34A3 PTH KL FGF23
47 adrenal gland disease 10.5 REN PTH POMC
48 coronavirus infectious disease 10.5 REN H2AC18 ALB
49 hypersensitivity reaction type iv disease 10.5 PTH H2AC18 ALB
50 paget disease of bone 5, juvenile-onset 10.5 TNFSF11 CALCA

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:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00240-S-1 9.5 SLC34A3
2 Decreased viability GR00249-S 9.5 ALB CYP24A1 KCNJ1 SLC12A3
3 Decreased viability GR00381-A-1 9.5 CALCA SLC34A3
4 Decreased viability GR00386-A-1 9.5 ALB KL POMC SLC34A3 TNFSF11 VDR
5 Decreased viability GR00402-S-2 9.5 SLC12A3 TNFSF11

MGI Mouse Phenotypes related to Mineral Metabolism Disease:

46 (show all 14)
# 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 10.33 CASR CYP24A1 CYP27B1 FGF23 GALNT3 KCNJ1
3 cardiovascular system MP:0005385 10.31 ALB FGF23 GALNT3 KCNJ1 KL PHEX
4 endocrine/exocrine gland MP:0005379 10.29 ALB BGLAP CASR CYP27B1 FGF23 GALNT3
5 hematopoietic system MP:0005397 10.28 BGLAP CASR CYP27B1 FGF23 GALNT3 KCNJ1
6 cellular MP:0005384 10.26 ALB BGLAP CASR CYP27B1 GALNT3 KL
7 immune system MP:0005387 10.21 ALB BGLAP CASR CYP27B1 FGF23 GALNT3
8 craniofacial MP:0005382 10.16 CASR CYP27B1 GALNT3 KL PHEX PTH
9 digestive/alimentary MP:0005381 10.15 ALB CASR FGF23 GALNT3 KL PHEX
10 renal/urinary system MP:0005367 10.03 ALB CASR CYP24A1 CYP27B1 FGF23 GALNT3
11 integument MP:0010771 10.02 CASR CYP27B1 FGF23 GALNT3 KCNJ1 KL
12 limbs/digits/tail MP:0005371 9.91 CYP27B1 FGF23 GALNT3 KL PHEX PTH
13 reproductive system MP:0005389 9.65 BGLAP CYP24A1 CYP27B1 FGF23 GALNT3 KL
14 skeleton MP:0005390 9.44 BGLAP CASR CYP24A1 CYP27B1 FGF23 GALNT3

Drugs & Therapeutics for Mineral Metabolism Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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

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

Publications for Mineral Metabolism Disease

Articles related to Mineral Metabolism Disease:

(show all 27)
# Title Authors PMID Year
1
Mineral and bone disorder biomarkers and inflammation indexes in patients with end stage renal disease. 61
33302656 2020
2
Increase of renal resistive index and mineral metabolism disorder in patients with acute coronary syndrome with preserved renal function. 61
33275237 2020
3
Comparison of the effects of lanthanum carbonate and calcium carbonate on the progression of cardiac valvular calcification after initiation of hemodialysis. 61
32000687 2020
4
Pharmacologic Therapies for Aortic Stiffness in End-Stage Renal Disease: A Systematic Review and Meta-Analysis. 61
32128224 2020
5
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
6
High calcium diet alleviates 5/6 nephrectomy-induced bone deteriorations of lumbar vertebrae in mice. 61
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]. 61
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. 61
28470390 2017
9
Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder. 61
29069247 2017
10
Association of conjunctival and corneal calcification with vascular calcification among hepatitis-C-seropositive hemodialysis patients. 61
27900962 2016
11
Arterial stiffness and increased cardiovascular risk in chronic kidney disease. 61
25991557 2015
12
Microscopic nephrocalcinosis in chronic kidney disease patients. 61
25586405 2015
13
Correlation between conjunctival and corneal calcification and cardiovascular calcification in patients undergoing maintenance hemodialysis. 61
25377787 2015
14
Laboratory test surveillance following acute kidney injury. 61
25117447 2014
15
The role of parvovirus in the etiology of somatic pathology. 61
24214594 2013
16
The effects of diabetes mellitus and diabetic nephropathy on bone and mineral metabolism in T2DM patients. 61
23522918 2013
17
Serum phosphate and calcium should be primarily and consistently controlled in prevalent hemodialysis patients. 61
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]. 61
22750928 2012
19
What would we like to know, and what do we not know about fibroblast growth factor 23? 61
21786227 2011
20
Calcium carbonate, but not sevelamer, is associated with better outcomes in hemodialysis patients: results from the French ARNOS study. 61
22111816 2011
21
Idiopathic infantile hypercalcaemia in 5-month old girl. 61
21699761 2011
22
[Calciphylaxis in dialysis patients: To recognize and treat it as soon as possible]. 61
20627839 2010
23
The relation between the serum calcium level and the complication incidence in haemodialysis uremic patients. 61
20402315 2010
24
Calcium-sensing receptor mutations and denaturing high performance liquid chromatography. 54
19179454 2009
25
[COLONIC TUMORS AND MINERAL METABOLISM DISORDER]. 61
14185844 1964
26
[Mineral metabolism disorder in the animal system as a complication of ultraviolet insufficiency]. 61
13490778 1957
27
Skeletal disease in mineral metabolism disorder. 61
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

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 9.65 TNFSF11 REN PTHLH PTH POMC KL
2 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 regulation of blood pressure GO:0008217 9.77 REN POMC CALCA
6 bone development GO:0060348 9.73 TNFSF11 PHEX BGLAP
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 cellular phosphate ion homeostasis GO:0030643 9.6 SLC34A3 FGF23
13 response to fibroblast growth factor GO:0071774 9.58 PTH CASR
14 phosphate ion homeostasis GO:0055062 9.58 PTH FGF23
15 vitamin metabolic process GO:0006766 9.57 CYP27B1 CYP24A1
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 hormone activity GO:0005179 9.02 PTHLH PTH POMC KL CALCA
2 peptide hormone receptor binding GO:0051428 8.96 PTHLH PTH

Sources for Mineral Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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