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 74
Mineral Metabolism Disorder 56


External Ids:

Disease Ontology 12 DOID:0050032
ICD10 34 E83 E83.8
UMLS 74 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 hypocalciuric hypercalcemia, familial, type i and hypocalciuric hypercalcemia, familial, type ii. 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 Calcium have been mentioned in the context of this disorder. Affiliated tissues include bone, kidney and thyroid, and related phenotypes are no effect and homeostasis/metabolism

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 119)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 31.1 CASR PTH
2 hypocalciuric hypercalcemia, familial, type ii 31.1 CASR PTH
3 hypocalciuric hypercalcemia, familial, type iii 30.9 CASR PTH PTHLH
4 vitamin d-dependent rickets, type 2a 30.5 PHEX VDR
5 autosomal recessive hypophosphatemic rickets 30.5 FGF23 GALNT3 PHEX
6 calciphylaxis 30.4 CASR FGF23 PTH VDR
7 hypophosphatemic rickets, autosomal dominant 30.3 FGF23 GALNT3 PHEX SLC34A3
8 hypophosphatemic rickets, x-linked dominant 30.2 FGF23 KL PHEX PTH SLC34A3
9 hypomagnesemia 1, intestinal 30.2 CLDN16 CLDN19 MGAM PTH
10 idiopathic hypercalciuria 30.1 CASR CLCN5 REN SLC34A3 VDR
11 primary hypomagnesemia 30.0 CLDN16 CLDN19 MGAM PTH
12 hypophosphatemic rickets with hypercalciuria, hereditary 29.8 CLDN16 FGF23 GALNT3 KL PHEX PTH
13 calcinosis 29.7 CALCA FGF23 GALNT3 KL PHEX
14 kidney disease 29.5 CASR CLCN5 FGF23 PTH REN VDR
15 bone disease 29.4 CALCA CASR FGF23 PTH PTHLH SLC34A3
16 osteoporosis 29.4 CALCA CASR FGF23 KL PTH PTHLH
17 chronic kidney failure 29.0 AGXT CALCA CASR CLDN16 FGF23 PTH
18 extraskeletal chondroma 10.4 PTH PTHLH
19 sclerosing hepatic carcinoma 10.4 PTH PTHLH
20 fibrogenesis imperfecta ossium 10.4 CALCA PTH
21 tracheal calcification 10.4 FGF23 KL
22 invasive malignant thymoma 10.4 PTH PTHLH
23 paraneoplastic syndromes 10.4 FGF23 PTHLH
24 osteitis fibrosa 10.4 CALCA CASR PTH
25 parathyroid carcinoma 10.3 CALCA CASR PTH
26 arthrogryposis, distal, type 3 10.3 REN SLC12A3
27 pulmonary alveolar microlithiasis 10.3 FGF23 PTH SLC34A3
28 hypoparathyroidism, familial isolated 10.3 CASR PTH
29 opsismodysplasia 10.3 FGF23 PHEX
30 hypoparathyroidism 10.3 CASR FGF23 PTH PTHLH
31 metaphyseal chondrodysplasia, jansen type 10.3 CALCA FGF23 PTH PTHLH
32 bone resorption disease 10.2 CALCA PTH VDR
33 tumoral calcinosis, hyperphosphatemic, familial, 1 10.2 FGF23 GALNT3 KL
34 uremia 10.2 CASR PTH VDR
35 scleredema adultorum 10.2 POMC PTH
36 hypomagnesemia 2, renal 10.2
37 hemochromatosis, type 1 10.2
38 hypomagnesemia 3, renal 10.2
39 iron overload in africa 10.2
40 hemochromatosis, type 5 10.2
41 familial hypocalciuric hypercalcemia 10.2
42 hemochromatosis type 2 10.2
43 spondylosis 10.2 KL PTH VDR
44 hypoaldosteronism 10.2 POMC REN
45 clear cell adenoma 10.2 PTH PTHLH
46 hyperostosis 10.2 FGF23 GALNT3 KL
47 oncogenic osteomalacia 10.2 FGF23 PHEX PTH PTHLH
48 thyroid gland disease 10.2 CALCA POMC PTH
49 acute adrenal insufficiency 10.2 POMC REN
50 subacute glomerulonephritis 10.2 PHEX POMC

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:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 9.92 AGXT CALCA CASR CLCN5 CLDN16 CLDN19

MGI Mouse Phenotypes related to Mineral Metabolism Disease:

47 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 AGXT CASR CLCN5 CLDN16 CLDN19 CYP24A1
2 cardiovascular system MP:0005385 10.29 CLDN19 FGF23 GALNT3 KCNJ1 KL PHEX
3 growth/size/body region MP:0005378 10.28 CASR CLCN5 CYP24A1 FGF23 GALNT3 KCNJ1
4 hematopoietic system MP:0005397 10.14 CASR FGF23 GALNT3 KCNJ1 KL PHEX
5 endocrine/exocrine gland MP:0005379 10.11 CASR FGF23 GALNT3 KL PHEX POMC
6 digestive/alimentary MP:0005381 10.08 CASR FGF23 GALNT3 KL PHEX PTHLH
7 craniofacial MP:0005382 10.04 CLCN5 GALNT3 KL PHEX PTH PTHLH
8 immune system MP:0005387 10.02 CASR FGF23 GALNT3 KL PHEX POMC
9 integument MP:0010771 9.86 CASR FGF23 GALNT3 KCNJ1 KL POMC
10 renal/urinary system MP:0005367 9.86 AGXT CASR CLCN5 CLDN16 CYP24A1 FGF23
11 limbs/digits/tail MP:0005371 9.7 FGF23 GALNT3 KL PHEX PTH PTHLH
12 skeleton MP:0005390 9.36 CASR CLCN5 CYP24A1 FGF23 GALNT3 KL

Drugs & Therapeutics for Mineral Metabolism Disease

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
Rifampicin Approved Phase 1 13292-46-1 5381226 5458213
Calcium Approved, Nutraceutical Phase 1 7440-70-2 271
3 Anti-Infective Agents Phase 1
4 Antibiotics, Antitubercular Phase 1
5 Antitubercular Agents Phase 1
6 Anti-Bacterial Agents Phase 1
7 Hormones Phase 1
8 Calcium, Dietary Phase 1
9 Cytochrome P-450 CYP3A Inducers Phase 1
10 Nucleic Acid Synthesis Inhibitors Phase 1

Interventional clinical trials:

# Name Status NCT ID Phase Drugs
1 The Antibiotic Rifampin to Reduce High Levels of Blood and Urine Calcium in IIH Recruiting NCT03384121 Phase 1 Rifampin 150 mg, 300 mg capsules and 25 mg/mL oral suspension
2 Theranova Dialyzer and Chronic Kidney Disease - Mineral Bone Disorder (CKD-MBD) Unknown status NCT03169400
3 Clinical Tolerance of Numeta 13% Unknown status NCT01772927
4 Acute Changes in the Mineral Metabolism After a High Phosphorous Containing Meal in Dialysis Patients Recruiting NCT03868371 Not Applicable
5 Diurnal Variation in Markers of Mineral and Bone Disease in Chronic Kidney Disease Recruiting NCT03698422
6 Evaluation and Treatment of Skeletal Diseases Recruiting NCT00024804

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:

Bone, Kidney, Thyroid, Lung

Publications for Mineral Metabolism Disease

Articles related to Mineral Metabolism Disease:

# Title Authors Year
Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder. ( 29069247 )

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 plasma membrane GO:0005886 9.73 CASR CLCN5 CLDN16 CLDN19 CYP24A1 KCNJ1
2 apical plasma membrane GO:0016324 9.02 CASR KL MGAM SLC12A3 SLC34A3

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 9.84 PHEX PTH PTHLH VDR
2 regulation of signaling receptor activity GO:0010469 9.8 CALCA FGF23 KL POMC PTH PTHLH
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.79 CALCA PTH PTHLH
4 chloride transmembrane transport GO:1902476 9.78 CASR CLCN5 SLC12A3
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 FGF23 GALNT3 KL
6 regulation of blood pressure GO:0008217 9.75 CALCA POMC REN
7 excretion GO:0007588 9.69 CLCN5 CLDN16 KCNJ1
8 cell-cell signaling GO:0007267 9.65 CALCA PHEX POMC PTH PTHLH
9 calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules GO:0016338 9.63 CLDN16 CLDN19
10 negative regulation of chondrocyte differentiation GO:0032331 9.62 PTH PTHLH
11 cellular response to parathyroid hormone stimulus GO:0071374 9.59 FGF23 PHEX
12 cellular phosphate ion homeostasis GO:0030643 9.58 FGF23 SLC34A3
13 phosphate ion homeostasis GO:0055062 9.57 FGF23 PTH
14 response to fibroblast growth factor GO:0071774 9.56 CASR PTH
15 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 FGF23 KL
16 cellular calcium ion homeostasis GO:0006874 9.54 CASR PTH VDR
17 bone mineralization GO:0030282 9.52 PHEX PTHLH
18 cAMP metabolic process GO:0046058 9.49 PTH PTHLH
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.48 FGF23 VDR
20 response to sodium phosphate GO:1904383 9.46 FGF23 PHEX
21 vitamin D catabolic process GO:0042369 9.43 CYP24A1 FGF23
22 vitamin D receptor signaling pathway GO:0070561 9.4 CYP24A1 VDR
23 response to vitamin D GO:0033280 9.33 CYP24A1 PHEX PTH
24 vasodilation GO:0042311 9.32 CASR
25 vitamin D metabolic process GO:0042359 9.13 CYP24A1 FGF23 VDR
26 cellular response to vitamin D GO:0071305 8.8 CASR FGF23 PHEX
27 ion transport GO:0006811 10.03 CLCN5 CLDN16 KCNJ1 SLC12A3 SLC34A3

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

# Name GO ID Score Top Affiliating Genes
1 amino acid binding GO:0016597 9.32 AGXT CASR
2 hydrolase activity, hydrolyzing O-glycosyl compounds GO:0004553 9.26 KL MGAM
3 peptide hormone receptor binding GO:0051428 9.16 PTH PTHLH
4 hormone activity GO:0005179 9.02 CALCA KL POMC PTH PTHLH
5 vitamin D binding GO:0005499 8.96 KL VDR

Sources for Mineral Metabolism Disease

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
33 HPO
34 ICD10
35 ICD10 via Orphanet
39 LifeMap
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
56 Novoseek
59 OMIM via Orphanet
63 PubMed
71 SNOMED-CT via Orphanet
73 Tocris
75 UMLS via Orphanet
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