Hyperphosphatemia malady

Wikipedia: Hyperphosphatemia is an electrolyte disturbance in which there is an abnormally elevated level of...⁴⁴ more...

MalaCards: Hyperphosphatemia is related to hyperphosphatemic familial tumoral calcinosis and familial tumoral calcinosis. An important gene associated with Hyperphosphatemia is FGF23 (fibroblast growth factor 23), and among its related pathways are Folate biosynthesis and NAD metabolism. The compounds glucose and foscarnet have been mentioned in the context of this disorder. Affiliated tissues include smooth muscle and kidney, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland.

Aliases & Descriptions:

hyperphosphatemia 6 8 32 43

Diseases related to hyperphosphatemia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 287)

id	Related Disease	Score	Top Affiliating Genes
1	hyperphosphatemic familial tumoral calcinosis	31.5	FGF23, GALNT3
2	familial tumoral calcinosis	30.6	KL, FGF23, GALNT3
3	hyperostosis	29.5	KL, BGLAP, FGF23, ALPL, TNFRSF11B, PTH
4	calciphylaxis	27.5	ALB, CASR, SPP1
5	calcinosis	27.2	KL, MGP, FGF23, ALPL, ALPP, ALPPL2
6	hyperlipidemia	25.0	BMP2, MGP, ALB, ALPP, PTH, SPP1
7	hypophosphatemia	21.8	KL, SFRP4, VDR, BGLAP, FGF23, ALB
8	hereditary hypophosphatemic rickets with hypercalciuria	13.7	FGF23, SLC34A1
9	hypophosphatemic rickets with hypercalciuria	13.7	FGF23, SLC34A1
10	clear cell adenoma	13.7	ALPP, PTH
11	keutel syndrome	13.6	BMP2, MGP
12	hypoparathyroidism familial isolated	13.6	GCM2, PTH
13	tumoral calcinosis, hyperphosphatemic	13.6	KL, FGF23
14	pseudohypoparathyroidism type 1b	13.6	GNAS, STX16
15	hereditary hypophosphatemic rickets	13.6	SFRP4, FGF23, SLC34A1, GALNT3
16	tympanosclerosis	13.6	BMP2, SPP1
17	jansen's metaphyseal chondrodysplasia	13.5	FGF23, PTH
18	hypoparathyroidism, autosomal dominant	13.5	GCM2, CASR, PTH
19	albright's hereditary osteodystrophy	13.5	GNAS, PTH, STX16
20	hypercalciuria, absorptive	13.5	VDR, CASR
21	hypophosphatasia	13.5	ALPL, ALPP
22	aortic valve stenosis	13.5	BMP2, TNFRSF11B, SPP1
23	wermer syndrome	13.5	GNAS, CASR, PTH
24	spondylosis	13.4	KL, VDR, PTH
25	common bile duct disease	13.4	ALPL, ALPP, ALPPL2
26	hypervitaminosis d	13.4	KL, VDR, FGF23, PTH
27	hypophosphatemic rickets, autosomal dominant	13.3	SFRP4, FGF23, PHEX
28	testicular neoplasm	13.3	ALPL, ALPP, ALPPL2
29	humoral hypercalcemia of malignancy	13.3	BGLAP, FGF23, CASR
30	familial isolated hyperparathyroidism	13.3	CASR, PTH
31	osteofibrous dysplasia	13.3	BGLAP, GNAS, SPP1
32	vitamin d-dependent rickets type ii	13.3	VDR, BGLAP, PTH
33	ossifying fibroma	13.3	BGLAP, GNAS, RUNX2
34	chondrodysplasia punctata 1, x-linked	13.3	BGLAP, MGP
35	parathyroid carcinoma	13.3	CASR, PTH
36	villonodular synovitis	13.3	BGLAP, TNFRSF11B, SPP1
37	giant cell tumor	13.2	BGLAP, FGF23, TNFRSF11B
38	enthesopathy	13.2	FGF23, PHEX
39	pigmented villonodular synovitis	13.2	BGLAP, TNFRSF11B, SPP1
40	dysgerminoma	13.2	ALPL, ALPP, ALPPL2
41	arterial calcification of infancy	13.2	FGF23, PHEX
42	oncogenic osteomalacia	13.2	SFRP4, FGF23, PTH, PHEX
43	brachydactyly	13.2	BMP2, GNAS, PTH, STX16, RUNX2
44	ankylosis	13.2	BMP2, TNFRSF11B, SPP1, SLC20A2
45	lumbar disc disease	13.2	VDR, BMP2
46	myelofibrosis	13.2	BMP2, TNFRSF11B, PTH, AHSG
47	pituitary tumor	13.2	SFRP4, BMP2, GNAS, CASR, RUNX2
48	pseudohypoparathyroidism type ib	13.2	BGLAP, GNAS, PTH, STX16
49	creatine phosphokinase	13.2	ALPP, SLPI, SLC17A5
50	transsexualism	13.1	VDR, BGLAP, TNFRSF11B

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hyperphosphatemia:

²²

MGI Mouse Phenotypes related to hyperphosphatemia:

²⁵ (show all 17)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.5	RUNX2, SLC20A1, PTH, CASR, ALPL, FGF23
2	endocrine/exocrine gland phenotype	MP:0005379	9.2	GALNT3, RUNX2, PTH, GNAS, GCM2, KL
3	other phenotype	MP:0005395	9.1	PHEX, SPP1, CASR, ALPL, KL
4	respiratory system phenotype	MP:0005388	9.0	SIRT1, RUNX2, ALPL, FGF23, MGP, SFRP4
5	reproductive system phenotype	MP:0005389	8.8	GALNT3, SIRT1, SLC34A1, SPP1, ALPP, ALPL
6	renal/urinary system phenotype	MP:0005367	8.8	SIRT1, SLC34A1, PHEX, CASR, GNAS, FGF23
7	muscle phenotype	MP:0005369	8.7	SLC34A1, AHSG, SPP1, CASR, GNAS, ALPL
8	immune system phenotype	MP:0005387	8.5	PHEX, SLC20A1, RUNX2, SIRT1, PTH, GNAS
9	craniofacial phenotype	MP:0005382	8.4	PTH, PHEX, RUNX2, SIRT1, TNFRSF11B, GNAS
10	limbs/digits/tail phenotype	MP:0005371	8.2	GALNT3, SIRT1, RUNX2, PHEX, PTH, TNFRSF11B
11	skeleton phenotype	MP:0005390	8.0	GCM2, GALNT3, RUNX2, SLC34A1, PHEX, SPP1
12	digestive/alimentary phenotype	MP:0005381	7.7	SIRT1, RUNX2, PHEX, CASR, ALPL, ALB
13	cardiovascular system phenotype	MP:0005385	7.6	PTH, SPP1, CRP, SLC20A1, RUNX2, SIRT1
14	growth/size phenotype	MP:0005378	7.2	SPP1, PHEX, AHSG, SLC34A1, SLC20A1, RUNX2
15	mortality/aging	MP:0010768	7.1	PTH, PHEX, SLC34A1, SLC17A5, SLC20A1, RUNX2
16	cellular phenotype	MP:0005384	7.1	PHEX, SLPI, SLC17A5, SLC20A1, RUNX2, SIRT1
17	homeostasis/metabolism phenotype	MP:0005376	5.3	PHEX, AHSG, SLPI, SLC34A1, SLC17A5, SLC20A1

Articles related to hyperphosphatemia:

(show all 20)

id	Title	Authors	Year	Affiliating Genes
1	Sirtuin 1 retards hyperphosphatemia-induced calcifica tion of vascular smooth muscle cells. (21719763)	Takemura A.... Ouchi Y.	2011	SIRT1
2	One year efficacy and safety of lanthanum carbonate f or hyperphosphatemia in Japanese chronic kidney disease patients undergoing hem odialysis. (20438515)	Shigematsu T.	2010	BGLAP
3	Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. (19297793)	Gok F.... Sprecher E.	2009	GALNT3
4	Efficacy of hyperphosphatemia control in the progression of chronic renal failure and the prevalence of cardiovascular calcification. (19203546)	Lezaic V.... Djukanovic L.j.	2009	CRP
5	Safety and effectiveness of nicotinic acid in the management of patients with chronic renal disease and hyperlipidemia associated to hyperphosphatemia (18336133)	Restrepo Valencia C.A.... Cruz J.	2008	ALB, SLC17A5
6	The challenge of hyperphosphatemia control in chroni c kidney disease (18847412)	Lorenzo Sellares V.	2008	VDR
7	Sevelamer hydrochloride improves hyperphosphatemia in hemodialysis patients with low bone turnover rate and low intact parathyroid hormone levels. (18028171)	Kokuho T.... Umemura S.	2007	BGLAP
8	Hyperostosis-hyperphosphatemia syndrome: a congenital disorder of O-glycosylation associated with augmented processing of fibroblast growth factor 23. (17129170)	Frishberg Y.... Fukumoto S.	2007	GALNT3, FGF23
9	Hyperphosphatemia: effects on bone metabolism and cardiovascular risk. (17721071)	Caudarella R.... Francucci C.M.	2007	PTH
10	Novel GALNT3 mutations causing hyperostosis-hyperphosphatemia syndrome result in low intact fibroblast growth factor 23 concentrations. (17311862)	Ichikawa S.... Econs M.J.	2007	GALNT3, FGF23
11	Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23 (16733465)	Dereure O.	2006	GALNT3, FGF23
12	Fibroblast growth factor-23 mitigates hyperphosphatemia but accentuates calcitriol deficiency in chronic kidney disease. (15917335)	Gutierrez O.... Wolf M.	2005	FGF23
13	Hyperphosphatemia and vascular calcification in end-stage renal disease. (15648030)	Nishizawa Y.... Shioi A.	2005	RUNX2, BGLAP, SLC34A1
14	An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia. (15590700)	Benet-Pages A.... Lorenz-Depiereux B.	2005	GALNT3, FGF23
15	Hyperphosphatemia in renal failure. (15627730)	Ritz E.... Gross M.L.	2005	FGF23
16	Identification of a recurrent mutation in GALNT3 demonstrates that hyperostosis-hyperphosphatemia syndrome and familial tumoral calcinosis are allelic disorders. (15599692)	Frishberg Y.... Sprecher E.	2005	GALNT3, GTDC2
17	FGF-23 is elevated by chronic hyperphosphatemia. (15356053)	Gupta A.... Collins M.T.	2004	FGF23
18	Homozygous ablation of fibroblast growth factor-23 results in hyperphosphatemia and impaired skeletogenesis, and reverses hypophosphatemia in Phex-deficient mice. (15579309)	Sitara D.... Lanske B.	2004	FGF23
19	Calciphylaxis is associated with hyperphosphatemia and increased osteopontin expression by vascular smooth muscle cells. (11382698)	Ahmed S.... Moe S.M.	2001	SPP1
20	Renal dysfunction and hyperphosphatemia--role of hyperphosphatemia on vascular calcification (15775640)	Nitta K.... Akiba T.	2001	SPP1

Genes related to hyperphosphatemia according to GeneCards:

(show all 34)

id	Symbol	Description	Score	GeneCards Section Context
1	FGF23	fibroblast growth factor 23	11.1	Publications, Summaries
2	GALNT3	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	11.0	Publications
3	SLC34A1	solute carrier family 34 (sodium phosphate), member 1	11.0	Publications
4	SFRP4	secreted frizzled-related protein 4	11.0
5	SLC20A1	solute carrier family 20 (phosphate transporter), member 1	11.0
6	MGP	matrix Gla protein	11.0
7	PTH	parathyroid hormone	11.0	Publications
8	GNAS	GNAS complex locus	11.0
9	SPP1	secreted phosphoprotein 1	11.0	Publications
10	SLPI	secretory leukocyte peptidase inhibitor	11.0
11	RUNX2	runt-related transcription factor 2	11.0	Publications
12	VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor	11.0	Publications
13	BMP2	bone morphogenetic protein 2	11.0
14	CASR	calcium-sensing receptor	11.0
15	ALPP	alkaline phosphatase, placental	11.0
16	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	11.0
17	STX16	syntaxin 16	11.0
18	GCM2	glial cells missing homolog 2 (Drosophila)	11.0
19	EMP1	epithelial membrane protein 1	11.0
20	ALPPL2	alkaline phosphatase, placental-like 2	11.0
21	KL	klotho	11.0
22	AHSG	alpha-2-HS-glycoprotein	11.0
23	SIRT1	sirtuin 1	11.0	Publications
24	SLC20A2	solute carrier family 20 (phosphate transporter), member 2	11.0
25	XPO4	exportin 4	11.0
26	KNTC1	kinetochore associated 1	11.0	Disorders
27	CTNNBL1	catenin, beta like 1	11.0
28	ALPL	alkaline phosphatase, liver/bone/kidney	11.0
29	PHEX	phosphate regulating endopeptidase homolog, X-linked	11.0
30	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
31	SLC17A5	solute carrier family 17 (anion/sugar transporter), member 5	11.0	Publications
32	CRP	C-reactive protein, pentraxin-related	11.0	Publications
33	ALB	albumin	11.0	Publications
34	GTDC2	glycosyltransferase-like domain containing 2	-9.1	Publications

Pathways related to hyperphosphatemia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Folate biosynthesis20	9.6	ALPPL2, ALPP, ALPL
2	NAD metabolism41	9.4	ALPL, ALPP, ALPPL2, SIRT1
3	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	9.4	VDR, BGLAP, GNAS, PTH, SPP1, RUNX2
4	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	9.4	RUNX2, SPP1, PTH, GNAS, BGLAP, VDR
5	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.3	RUNX2, SPP1, PTH, TNFRSF11B, BGLAP, VDR
6	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.2	RUNX2, SPP1, PTH, TNFRSF11B, BGLAP, VDR
7	NAD metabolism10	9.1	ALPL, ALPP, ALPPL2, SIRT1

Compounds related to hyperphosphatemia according to GeneDecks:

(show top 50)    (show all 119)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.1	AHSG, PTH, RUNX2, CASR
2	foscarnet32 9 9	12.0	SLC20A2, SLC20A1, SLC34A1, SPP1, RUNX2
3	22-oxacalcitriol32	9.8	CASR, VDR, BGLAP, ALPP
4	etidronate32	9.8	BGLAP, SLPI, TNFRSF11B, ALPP
5	levamisole32 9 9	11.8	SLPI, SPP1, ALPL, ALPP, ALPPL2
6	ipriflavone32	9.7	SLPI, ALPP, BGLAP
7	risedronate32 42 9 9	12.7	TNFRSF11B, BGLAP, SLPI, ALPP
8	vitamin k232	9.7	ALPP, BGLAP, SLPI, TNFRSF11B
9	zoledronic acid32	9.6	SLPI, TNFRSF11B, BMP2, BGLAP, ALPP
10	raloxifene32 9 9	11.5	BGLAP, TNFRSF11B, BMP2, SLPI, VDR
11	titanium32	9.4	ALPP, SPP1, RUNX2, BMP2, SLPI, TNFRSF11B
12	chitosan32	9.4	ALPP, SPP1, BMP2, BGLAP
13	sevelamer32	9.3	BGLAP, CASR, FGF23, ALB
14	alendronate32 9 9	11.3	VDR, ALPP, TNFRSF11B, SLPI, RUNX2, PTH
15	alizarin32	9.3	SPP1, RUNX2, BMP2, BGLAP, ALPL, ALPP
16	fluoride32	9.2	BGLAP, ALPP, SPP1, SLPI, SLC17A5
17	testosterone32 9 18 9	12.2	SPP1, SLPI, ALPP, BGLAP, BMP2, PTH
18	aspartate32	9.2	PHEX, TNFRSF11B, ALPL, SLC17A5, VDR
19	pamidronate32 9 9	11.1	CRP, PTH, TNFRSF11B, CASR, ALPP, BGLAP
20	creatinine32	9.0	VDR, SLPI, CRP, SPP1, PTH, TNFRSF11B
21	hydroxyproline32 18	10.0	BGLAP, AHSG, TNFRSF11B, PTH, ALPP, SLPI
22	deoxypyridinoline32	9.0	VDR, ALPP, BGLAP, TNFRSF11B, CRP, SLPI
23	procollagen32	8.8	SLPI, ALPP, BGLAP, BMP2, PTH, TNFRSF11B
24	pge232	8.8	VDR, BGLAP, GNAS, BMP2, RUNX2, SLPI
25	sb 20358032 42	9.7	ALPP, BMP2, VDR, RUNX2, BGLAP, CRP
26	arginine32	8.6	SLC20A1, SLC20A2, SPP1, PTH, BMP2, ALPP
27	cyclosporin a32 42	9.6	VDR, BMP2, SPP1, TNFRSF11B, SLC17A5, CASR
28	hydrochlorothiazide32 34 9 18 9	12.6	VDR, CRP, ALB, CASR, BGLAP
29	cycloheximide32	8.5	PTH, VDR, BMP2, ALPP, TNFRSF11B, RUNX2
30	sevoflurane32 9 9	10.5	ALB, ALPP, SLC17A5, SLPI
31	1,25 dihydroxy vitamin d332	8.5	RUNX2, SLC34A1, PHEX, VDR, BMP2, SPP1
32	hydroxyapatite32	8.4	TNFRSF11B, CASR, ALPP, ALPL, FGF23, MGP
33	thyroxine32 18	9.3	VDR, SLC17A5, BGLAP, ALB, ALPP, TNFRSF11B
34	polyethylene glycol32	8.3	BMP2, SLC17A5, ALB, CRP, SPP1, ALPP
35	estrogen32	8.2	SIRT1, RUNX2, MGP, SLPI, SPP1, PTH
36	vitamin b632	8.2	ALB, ALPP, CRP, ALPL, SLC17A5
37	heparin32 9 18 9	11.2	SLPI, BGLAP, GTDC2, ALB, ALPP, TNFRSF11B
38	retinoic acid32 42 18	9.8	VDR, BMP2, TNFRSF11B, SPP1, ALPP, RUNX2
39	prednisolone32 9 9	9.8	SLC17A5, ALB, ALPP, CRP, TNFRSF11B, BGLAP
40	sodium32 18	8.8	SLPI, SLC34A1, SFRP4, PHEX, TNFRSF11B, CASR
41	magnesium32 9 18 9	10.8	ALPL, ALPP, ALPPL2, TNFRSF11B, ALB, PTH
42	cysteine32	7.7	ALPL, SLPI, AHSG, CASR, VDR, BGLAP
43	serine32	7.6	MGP, FGF23, ALPP, GNAS, CASR, TNFRSF11B
44	25-hydroxyvitamin d32	7.6	ALPP, ALB, BGLAP, VDR, SFRP4, FGF23
45	calcitriol32 42 9 18 9	11.4	SFRP4, VDR, BMP2, BGLAP, MGP, FGF23
46	phosphorus32	7.3	SLC17A5, SLC34A1, SLPI, PHEX, SPP1, PTH
47	ascorbic acid32 18	8.3	TNFRSF11B, SLPI, SPP1, SLC17A5, VDR, RUNX2
48	vitamin d32	6.7	RUNX2, SLC34A1, SLPI, AHSG, PHEX, SPP1
49	alanine32	6.6	CASR, SPP1, GNAS, ALPP, ALB, BGLAP
50	calcium32 9 18 9	8.1	VDR, RUNX2, GALNT3, SLC20A1, SLC34A1, SLPI

Cellular components related to hyperphosphatemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	membrane-bounded vesicle	GO:031988	9.4	SPP1, BGLAP, BMP2
2	membrane	GO:016020	8.8	ALPPL2, GNAS, SLC17A5, SLC20A2, SLC20A1, EMP1
3	extracellular space	GO:005615	6.7	KL, AHSG, CRP, SPP1, PTH, TNFRSF11B
4	extracellular region	GO:005576	6.4	PTH, SPP1, CRP, AHSG, SLPI, TNFRSF11B

Biological processes related to hyperphosphatemia according to GeneDecks:

(show all 14)

id	Name	GO ID	Score	Top Affiliating Genes
1	phosphate ion homeostasis	GO:055062	10.4	SFRP4, FGF23, SLC34A1
2	positive regulation of vitamin D 24-hydroxylase activity	GO:010980	10.3	VDR, FGF23
3	cellular phosphate ion homeostasis	GO:030643	10.2	GCM2, FGF23
4	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	GO:090080	10.1	FGF23, KL
5	positive regulation of bone mineralization	GO:030501	10.0	PTH, BMP2, KL
6	cellular calcium ion homeostasis	GO:006874	10.0	PTH, CASR, VDR, GCM2
7	ossification	GO:001503	9.9	RUNX2, AHSG, CASR, MGP
8	regulation of bone mineralization	GO:030500	9.9	BGLAP, MGP, AHSG
9	osteoblast differentiation	GO:001649	9.8	RUNX2, SPP1, BGLAP, BMP2
10	response to mechanical stimulus	GO:009612	9.8	BMP2, BGLAP, MGP
11	response to vitamin D	GO:033280	9.7	BGLAP, ALPL, SPP1
12	ion transport	GO:006811	9.1	SLC34A1, SLC17A5, SLC20A2, SLC20A1
13	skeletal system development	GO:001501	8.6	VDR, AHSG, PHEX, PTH, TNFRSF11B, ALPL
14	transmembrane transport	GO:055085	8.4	SLC20A1, SLC20A2, SLC17A5, SLC34A1, GNAS, ALB

Molecular functions related to hyperphosphatemia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	vitamin D binding	GO:005499	10.1	KL, VDR
2	structural constituent of bone	GO:008147	9.8	BGLAP, MGP
3	inorganic phosphate transmembrane transporter activity	GO:005315	9.8	SLC20A2, SLC20A1
4	alkaline phosphatase activity	GO:004035	9.7	ALPL, ALPP, ALPPL2