MCID: MNR003
MIFTS: 34

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
Disorder of Mineral Metabolism 73
Mineral Metabolism Disorder 55

Classifications:



External Ids:

Disease Ontology 12 DOID:0050032
ICD10 33 E83 E83.8
UMLS 73 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 iii and calciphylaxis. 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 liver and bone, 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 124)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type iii 31.3 CASR PTH PTHLH
2 calciphylaxis 30.5 CASR FGF23 PTH VDR
3 hypomagnesemia 1, intestinal 30.5 CLDN16 MGAM PTH
4 hypophosphatemic rickets, autosomal dominant 30.3 FGF23 GALNT3 PHEX SLC34A3
5 primary hypomagnesemia 29.9 ATP6V0A4 CLDN16 MGAM PTH
6 idiopathic hypercalciuria 29.6 CASR CLCN5 REN SLC34A3 VDR
7 hypophosphatemic rickets, x-linked dominant 29.3 FGF23 KL PHEX PTH SLC34A3 VDR
8 hypophosphatemic rickets with hypercalciuria, hereditary 28.5 ATP6V0A4 CLDN16 FGF23 GALNT3 KL PHEX
9 osteoporosis 28.2 CALCA CASR CYP24A1 FGF23 KL PTH
10 chronic kidney failure 27.8 AGXT CALCA CASR CLDN16 FGF23 PTH
11 extraskeletal chondroma 10.9 PTH PTHLH
12 sclerosing hepatic carcinoma 10.9 PTH PTHLH
13 fibrogenesis imperfecta ossium 10.9 CALCA PTH
14 tracheal calcification 10.8 FGF23 KL
15 fanconi-like syndrome 10.8 ATP6V0A4 CASR
16 invasive malignant thymoma 10.8 PTH PTHLH
17 paraneoplastic syndromes 10.8 FGF23 PTHLH
18 osteitis fibrosa 10.8 CALCA CASR PTH
19 impaired renal function disease 10.7 ATP6V0A4 FGF23 PTH
20 parathyroid carcinoma 10.7 CALCA CASR PTH
21 arthrogryposis, distal, type 3 10.7 REN SLC12A3
22 tumoral calcinosis, hyperphosphatemic, familial, 1 10.6 FGF23 GALNT3 KL
23 pulmonary alveolar microlithiasis 10.6 FGF23 PTH SLC34A3
24 arterial calcification of infancy 10.6 FGF23 GALNT3 PHEX
25 opsismodysplasia 10.6 FGF23 PHEX
26 hypoparathyroidism 10.6 CASR FGF23 PTH PTHLH
27 hypocalcemia, autosomal dominant 1 10.6 CALCA CASR VDR
28 clear cell adenoma 10.6 PTH PTHLH
29 hyperostosis 10.5 FGF23 GALNT3 KL
30 metaphyseal chondrodysplasia, jansen type 10.5 CALCA FGF23 PTH PTHLH
31 bone resorption disease 10.5 CALCA PTH VDR
32 uremia 10.5 CASR PTH VDR
33 benign essential hypertension 10.5 MGAM REN
34 spondylosis 10.5 KL PTH VDR
35 oncogenic osteomalacia 10.5 FGF23 PHEX PTH PTHLH
36 hypoparathyroidism, familial isolated 10.4 CASR PTH
37 perinephritis 10.3 MGAM REN
38 scleredema adultorum 10.3 POMC PTH
39 familial tumoral calcinosis 10.3 FGF23 GALNT3 KL PHEX
40 acute adrenal insufficiency 10.3 POMC REN
41 subacute glomerulonephritis 10.3 PHEX POMC
42 hypoaldosteronism 10.3 POMC REN
43 thyroid crisis 10.2 POMC PTH
44 hypoadrenalism 10.2 CALCA POMC PTHLH
45 acute thyroiditis 10.2 ATP6V0A4 CALCA POMC
46 secondary hypertrophic osteoarthropathy 10.2 CALCA GALNT3 POMC
47 thyroid gland disease 10.2 CALCA POMC PTH
48 secondary hyperparathyroidism of renal origin 10.2 CALCA CASR FGF23 PTH VDR
49 parathyroid adenoma 10.2 CALCA CASR PTH PTHLH VDR
50 xanthinuria, type i 10.2 AGXT CASR VDR

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:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 FGF23 GALNT3 KCNJ1 KL MGAM PHEX
2 growth/size/body region MP:0005378 10.33 ATP6V0A4 CASR CLCN5 CYP24A1 FGF23 GALNT3
3 cardiovascular system MP:0005385 10.21 FGF23 GALNT3 KCNJ1 KL POMC PTH
4 hematopoietic system MP:0005397 10.17 FGF23 GALNT3 KCNJ1 KL PHEX POMC
5 digestive/alimentary MP:0005381 10.08 CASR FGF23 GALNT3 KL PHEX PTHLH
6 immune system MP:0005387 10.07 CASR FGF23 GALNT3 KL PHEX POMC
7 craniofacial MP:0005382 10.04 CLCN5 GALNT3 KL PHEX PTH PTHLH
8 mortality/aging MP:0010768 9.93 ATP6V0A4 CASR CYP24A1 FGF23 KCNJ1 KL
9 integument MP:0010771 9.92 VDR PTHLH GALNT3 KCNJ1 KL POMC
10 renal/urinary system MP:0005367 9.89 AGXT ATP6V0A4 CASR CLCN5 CLDN16 CYP24A1
11 limbs/digits/tail MP:0005371 9.8 FGF23 GALNT3 KL PHEX PTH PTHLH
12 skeleton MP:0005390 9.4 ATP6V0A4 CASR CLCN5 CYP24A1 FGF23 GALNT3

Drugs & Therapeutics for Mineral Metabolism Disease

Search Clinical Trials , 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:

41
Liver, Bone

Publications for Mineral Metabolism Disease

Articles related to Mineral Metabolism Disease:

# Title Authors Year
1
Bone mineral density and disorders of mineral metabolism in chronic liver disease. ( 19630107 )
2009
2
Posttransplant acidosis and associated disorders of mineral metabolism in patients with a renal graft. ( 17998871 )
2007

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 9.93 ATP6V0A4 CASR CLCN5 CLDN16 CYP24A1 KCNJ1
2 apical part of cell GO:0045177 9.13 ATP6V0A4 CLCN5 REN
3 apical plasma membrane GO:0016324 9.1 ATP6V0A4 CASR KL MGAM SLC12A3 SLC34A3

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

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.91 CALCA PHEX POMC PTH PTHLH
2 skeletal system development GO:0001501 9.83 PHEX PTH PTHLH VDR
3 regulation of signaling receptor activity GO:0010469 9.8 CALCA FGF23 KL POMC PTH PTHLH
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.77 FGF23 GALNT3 KL
5 adenylate cyclase-activating G-protein coupled receptor signaling pathway GO:0007189 9.77 CALCA PTH PTHLH
6 regulation of blood pressure GO:0008217 9.76 CALCA POMC REN
7 cellular calcium ion homeostasis GO:0006874 9.67 CALCA CASR PTH VDR
8 vasodilation GO:0042311 9.62 CALCA CASR
9 negative regulation of chondrocyte differentiation GO:0032331 9.62 PTH PTHLH
10 positive regulation of ossification GO:0045778 9.61 CALCA PTH
11 obsolete positive regulation of cAMP biosynthetic process GO:0030819 9.61 PTH PTHLH
12 cellular response to parathyroid hormone stimulus GO:0071374 9.58 FGF23 PHEX
13 cellular phosphate ion homeostasis GO:0030643 9.57 FGF23 SLC34A3
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 9.54 FGF23 KL
16 cAMP metabolic process GO:0046058 9.49 PTH PTHLH
17 vitamin D receptor signaling pathway GO:0070561 9.48 CYP24A1 VDR
18 vitamin D catabolic process GO:0042369 9.46 CYP24A1 FGF23
19 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.43 FGF23 VDR
20 response to vitamin D GO:0033280 9.43 CYP24A1 PHEX PTH
21 response to sodium phosphate GO:1904383 9.4 FGF23 PHEX
22 vitamin D metabolic process GO:0042359 9.33 CYP24A1 FGF23 VDR
23 cellular response to vitamin D GO:0071305 9.13 CASR FGF23 PHEX
24 excretion GO:0007588 8.92 ATP6V0A4 CLCN5 CLDN16 KCNJ1
25 ion transport GO:0006811 10.02 ATP6V0A4 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 peptide hormone receptor binding GO:0051428 9.16 PTH PTHLH
2 hormone activity GO:0005179 9.02 CALCA KL POMC PTH PTHLH
3 vitamin D binding GO:0005499 8.96 KL VDR

Sources for Mineral Metabolism Disease

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....