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MCID: MNR003
MIFTS: 39

Mineral Metabolism Disease

Categories: Metabolic diseases
Genes Tissues Related diseases Publications Pathways
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Aliases & Classifications for Mineral Metabolism Disease

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MalaCards integrated aliases for Mineral Metabolism Disease:

Name: Mineral Metabolism Disease 12 15
Disorder of Mineral Metabolism 73
Mineral Metabolism Disorder 55

Classifications:

MalaCards categories:
Global: Metabolic diseases
See all MalaCards categories (disease lists)
ICD10: 33


External Ids:

Disease Ontology 12 DOID:0050032
ICD10 33 E83 E83.8
UMLS 73 C0154260
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Summaries for Mineral Metabolism Disease

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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. Affiliated tissues include bone, cortex and lung, and related phenotypes are Decreased viability and Decreased viability

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Related Diseases for Mineral Metabolism Disease

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

(show top 50) (show all 120)
# Related Disease Score Top Affiliating Genes
1 hypocalciuric hypercalcemia, familial, type i 30.8 CASR PTH
2 hypocalciuric hypercalcemia, familial, type ii 30.8 CASR PTH
3 hypocalciuric hypercalcemia, familial, type iii 30.7 CASR PTH PTHLH
4 hypomagnesemia 1, intestinal 30.4 CLDN16 MGAM PTH
5 autosomal recessive hypophosphatemic rickets 30.3 FGF23 GALNT3 PHEX
6 vitamin d-dependent rickets, type 2a 30.3 PHEX VDR
7 calciphylaxis 30.3 CASR FGF23 PTH VDR
8 hypophosphatemic rickets, autosomal dominant 30.2 FGF23 GALNT3 PHEX SLC34A3
9 primary hypomagnesemia 30.1 ATP6V0A4 CLDN16 MGAM PTH
10 hypophosphatemic rickets, x-linked dominant 30.1 FGF23 KL PHEX PTH SLC34A3
11 idiopathic hypercalciuria 30.0 CASR CLCN5 REN SLC34A3 VDR
12 calcinosis 29.7 CALCA FGF23 GALNT3 KL PHEX
13 hypophosphatemic rickets with hypercalciuria, hereditary 29.6 ATP6V0A4 CLDN16 FGF23 GALNT3 KL PHEX
14 osteoporosis 29.2 CALCA CASR CYP24A1 FGF23 KL PTH
15 chronic kidney failure 29.1 AGXT CALCA CASR CLDN16 FGF23 PTH
16 extraskeletal chondroma 10.3 PTH PTHLH
17 sclerosing hepatic carcinoma 10.3 PTH PTHLH
18 fibrogenesis imperfecta ossium 10.3 CALCA PTH
19 tracheal calcification 10.3 FGF23 KL
20 invasive malignant thymoma 10.3 PTH PTHLH
21 paraneoplastic syndromes 10.2 FGF23 PTHLH
22 osteitis fibrosa 10.2 CALCA CASR PTH
23 parathyroid carcinoma 10.2 CALCA CASR PTH
24 impaired renal function disease 10.2 ATP6V0A4 FGF23 PTH
25 arthrogryposis, distal, type 3 10.2 REN SLC12A3
26 pulmonary alveolar microlithiasis 10.2 FGF23 PTH SLC34A3
27 hypomagnesemia 2, renal 10.2
28 hemochromatosis, type 1 10.2
29 hypomagnesemia 3, renal 10.2
30 iron overload in africa 10.2
31 hemochromatosis, type 5 10.2
32 familial hypocalciuric hypercalcemia 10.2
33 hemochromatosis type 2 10.2
34 hypoparathyroidism, familial isolated 10.2 CASR PTH
35 tumoral calcinosis, hyperphosphatemic, familial, 1 10.2 FGF23 GALNT3 KL
36 opsismodysplasia 10.2 FGF23 PHEX
37 hypoparathyroidism 10.2 CASR FGF23 PTH PTHLH
38 hyperostosis 10.2 FGF23 GALNT3 KL
39 metaphyseal chondrodysplasia, jansen type 10.2 CALCA FGF23 PTH PTHLH
40 benign essential hypertension 10.2 MGAM REN
41 bone resorption disease 10.2 CALCA PTH VDR
42 uremia 10.2 CASR PTH VDR
43 clear cell adenoma 10.2 PTH PTHLH
44 spondylosis 10.1 KL PTH VDR
45 oncogenic osteomalacia 10.1 FGF23 PHEX PTH PTHLH
46 scleredema adultorum 10.1 POMC PTH
47 perinephritis 10.1 MGAM REN
48 hypoaldosteronism 10.1 POMC REN
49 thyroid gland disease 10.1 CALCA POMC PTH
50 familial tumoral calcinosis 10.1 FGF23 GALNT3 KL PHEX

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



Diseases related to Mineral Metabolism Disease
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Symptoms & Phenotypes for Mineral Metabolism Disease

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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 10.03 SLC34A3
2 Decreased viability GR00381-A-1 10.03 AGXT CALCA SLC34A3
3 Decreased viability GR00402-S-2 10.03 AGXT ATP6V0A4 CALCA CASR CLCN5 CLDN16
4 no effect GR00402-S-1 9.62 AGXT ATP6V0A4 CALCA CASR CLCN5 CLDN16

MGI Mouse Phenotypes related to Mineral Metabolism Disease:

46 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.38 AGXT ATP6V0A4 CASR CLCN5 CLDN16 CYP24A1
2 growth/size/body region MP:0005378 10.33 ATP6V0A4 CASR CLCN5 CYP24A1 FGF23 GALNT3
3 cardiovascular system MP:0005385 10.26 FGF23 GALNT3 KCNJ1 KL PHEX POMC
4 hematopoietic system MP:0005397 10.17 CASR FGF23 GALNT3 KCNJ1 KL PHEX
5 endocrine/exocrine gland MP:0005379 10.13 CASR FGF23 GALNT3 KL PHEX POMC
6 digestive/alimentary MP:0005381 10.1 CASR FGF23 GALNT3 KL PHEX PTHLH
7 immune system MP:0005387 10.07 CASR FGF23 GALNT3 KL PHEX POMC
8 craniofacial MP:0005382 10.05 CLCN5 GALNT3 KL PHEX PTH PTHLH
9 mortality/aging MP:0010768 9.93 ATP6V0A4 CASR CYP24A1 FGF23 KCNJ1 KL
10 integument MP:0010771 9.92 CASR FGF23 GALNT3 KCNJ1 KL POMC
11 renal/urinary system MP:0005367 9.89 AGXT ATP6V0A4 CASR CLCN5 CLDN16 CYP24A1
12 limbs/digits/tail MP:0005371 9.8 FGF23 GALNT3 KL PHEX PTH PTHLH
13 skeleton MP:0005390 9.4 ATP6V0A4 CASR CLCN5 CYP24A1 FGF23 GALNT3
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Drugs & Therapeutics for Mineral Metabolism Disease

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Search Clinical Trials , NIH Clinical Center for Mineral Metabolism Disease

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Genetic Tests for Mineral Metabolism Disease

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Anatomical Context for Mineral Metabolism Disease

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MalaCards organs/tissues related to Mineral Metabolism Disease:

41
Bone, Cortex, Lung, Kidney, Thyroid, Adrenal Gland, Adrenal Cortex
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Publications for Mineral Metabolism Disease

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Articles related to Mineral Metabolism Disease:

# Title Authors Year
1
Reversal of uremic tumoral calcinosis by optimization of clinical treatment of bone and mineral metabolism disorder. ( 29069247 )
2017
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Variations for Mineral Metabolism Disease

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Expression for Mineral Metabolism Disease

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

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

# Super pathways Score Top Affiliating Genes
1
G alpha (s) signalling events 66
11.79 CALCA POMC PTH PTHLH
2
Parathyroid hormone synthesis, secretion and action 37
11.25 CASR CYP24A1 FGF23 KL PTH PTHLH
3
Development_Hedgehog and PTH signaling pathways in bone and cartilage development 22
11.02 PTH PTHLH VDR
4
Transcription_Role of VDR in regulation of genes involved in osteoporosis 22
10.91 CALCA CYP24A1 PTH VDR
5
Osteoblast Signaling 1
10.51 FGF23 PTH
6
Vitamin D Metabolism 1
10.33 CYP24A1 PTH VDR
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GO Terms for Mineral Metabolism Disease

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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 26)
# Name GO ID Score Top Affiliating Genes
1 regulation of signaling receptor activity GO:0010469 9.85 CALCA FGF23 KL POMC PTH PTHLH
2 skeletal system development GO:0001501 9.84 PHEX PTH PTHLH VDR
3 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.79 CALCA PTH PTHLH
4 chloride transmembrane transport GO:1902476 9.79 CASR CLCN5 SLC12A3
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.78 FGF23 GALNT3 KL
6 regulation of blood pressure GO:0008217 9.76 CALCA POMC REN
7 cell-cell signaling GO:0007267 9.72 CALCA PHEX POMC PTH PTHLH
8 cellular calcium ion homeostasis GO:0006874 9.71 CALCA CASR PTH VDR
9 bone mineralization GO:0030282 9.7 PHEX PTH PTHLH
10 vasodilation GO:0042311 9.63 CALCA CASR
11 negative regulation of chondrocyte differentiation GO:0032331 9.62 PTH PTHLH
12 cellular response to parathyroid hormone stimulus GO:0071374 9.6 FGF23 PHEX
13 cellular phosphate ion homeostasis GO:0030643 9.59 FGF23 SLC34A3
14 phosphate ion homeostasis GO:0055062 9.58 FGF23 PTH
15 response to fibroblast growth factor GO:0071774 9.57 CASR PTH
16 positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway GO:0090080 9.55 FGF23 KL
17 cAMP metabolic process GO:0046058 9.51 PTH PTHLH
18 positive regulation of vitamin D 24-hydroxylase activity GO:0010980 9.49 FGF23 VDR
19 response to sodium phosphate GO:1904383 9.48 FGF23 PHEX
20 vitamin D catabolic process GO:0042369 9.46 CYP24A1 FGF23
21 vitamin D receptor signaling pathway GO:0070561 9.43 CYP24A1 VDR
22 response to vitamin D GO:0033280 9.43 CYP24A1 PHEX PTH
23 vitamin D metabolic process GO:0042359 9.33 CYP24A1 FGF23 VDR
24 cellular response to vitamin D GO:0071305 9.13 CASR FGF23 PHEX
25 excretion GO:0007588 8.92 ATP6V0A4 CLCN5 CLDN16 KCNJ1
26 ion transport GO:0006811 10.03 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 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
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Sources for Mineral Metabolism Disease

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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