Mineral Metabolism Disease disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Metabolic diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Endocrine, nutritional and metabolic diseases

Metabolic disorders

Disorders of mineral metabolism

Other disorders of mineral metabolism

External Ids:

Disease Ontology ¹² DOID:0050032

ICD10 ³³ E83 E83.8

UMLS ⁷³ C0154260

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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

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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:

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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

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Drugs & Therapeutics for Mineral Metabolism Disease

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

MalaCards organs/tissues related to Mineral Metabolism Disease:

⁴¹

Liver, Bone

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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 )	George J....Shah N.	2009
2	Posttransplant acidosis and associated disorders of mineral metabolism in patients with a renal graft. ( 17998871 )	Yakupoglu H.Y....AmbA1hl P.M.	2007

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Genes for Mineral Metabolism Disease

Genes related to Mineral Metabolism Disease (0 elite genes):

(show all 21)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	CASR	Calcium Sensing Receptor	Protein Coding	26.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : DISEASES inferred (show sections)	19179454
2	PTH	Parathyroid Hormone	Protein Coding	20.28	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
3	PTHLH	Parathyroid Hormone Like Hormone	Protein Coding	19.61	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
4	FGF23	Fibroblast Growth Factor 23	Protein Coding	19.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
5	CALCA	Calcitonin Related Polypeptide Alpha	Protein Coding	18.41	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
6	ATP6V0A4	ATPase H+ Transporting V0 Subunit A4	Protein Coding	18.14	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
7	GALNT3	Polypeptide N-Acetylgalactosaminyltransferase 3	Protein Coding	18.1	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
8	REN	Renin	Protein Coding	18.09	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
9	SLC12A3	Solute Carrier Family 12 Member 3	Protein Coding	17.66	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
10	KL	Klotho	Protein Coding	17.52	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
11	PHEX	Phosphate Regulating Endopeptidase Homolog X-Linked	Protein Coding	17.51	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
12	SLC34A3	Solute Carrier Family 34 Member 3	Protein Coding	17.5	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
13	CLCN5	Chloride Voltage-Gated Channel 5	Protein Coding	17.38	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
14	VDR	Vitamin D Receptor	Protein Coding	17.31	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
15	CLDN16	Claudin 16	Protein Coding	17.24	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
16	CYP24A1	Cytochrome P450 Family 24 Subfamily A Member 1	Protein Coding	17.16	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
17	MGAM	Maltase-Glucoamylase	Protein Coding	17.15	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
18	AGXT	Alanine--Glyoxylate And Serine--Pyruvate Aminotransferase	Protein Coding	17.02	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
19	POMC	Proopiomelanocortin	Protein Coding	16.99	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
20	KCNJ1	Potassium Voltage-Gated Channel Subfamily J Member 1	Protein Coding	16.91	DISEASES inferred ¹⁵ GeneCards inferred via : DISEASES inferred (show sections)
21	CLCNKB	Chloride Voltage-Gated Channel Kb	Protein Coding	6.88	DISEASES inferred ¹⁵

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Variations for Mineral Metabolism Disease

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Expression for Mineral Metabolism Disease

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

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Pathways for Mineral Metabolism Disease

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

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

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