Tumoral Calcinosis, Hyperphosphatemic malady

MalaCards: Tumoral Calcinosis, Hyperphosphatemic, also known as tumoral calcinosis, is related to calcinosis and hyperphosphatemic familial tumoral calcinosis. An important gene associated with Tumoral Calcinosis, Hyperphosphatemic is FGF23 (fibroblast growth factor 23), and among its related pathways is Signaling by EGFR. Related mouse phenotypes are reproductive system and limbs/digits/tail.

OMIM: 211900

tumoral calcinosis, hyperphosphatemic 33 32 tumoral calcinosis 43

Diseases related to tumoral calcinosis, hyperphosphatemic by text searches and GeneDecks gene sharing:

(show all 27)

id	Related Disease	Score	Top Affiliating Genes
1	calcinosis	34.0	KL, GALNT3, FGF23
2	hyperphosphatemic familial tumoral calcinosis	33.6	GALNT3, FGF23
3	familial tumoral calcinosis	30.1	GALNT3, FGF23
4	hyperostosis	29.2	GALNT3, KL, FGF23
5	hyperphosphatemia	29.2	GALNT3, FGF23, KL
6	hypervitaminosis d	12.6	KL, FGF23
7	familial hypophosphatemia	12.6	FGF23, KL
8	hypophosphatemia	12.6	KL, FGF23
9	pulmonary emphysema	12.6	FGF23, KL
10	osteomalacia	12.5	KL, FGF23
11	hypercalciuria	12.5	KL, FGF23
12	rickets	12.5	FGF23, KL
13	primary hyperparathyroidism	12.4	FGF23, KL
14	hypercalcemia	12.4	FGF23, KL
15	periostitis	12.4	KL, GALNT3
16	secondary hyperparathyroidism of renal origin	12.3	KL, FGF23
17	osteoporosis	12.3	FGF23, KL
18	hereditary hypophosphatemic rickets	12.3	GALNT3, FGF23
19	hyperparathyroidism	12.2	FGF23, KL
20	aldosteronism	12.0	FGF23, KL
21	bilirubin metabolic disorder	11.8	KL, GALNT3, FGF23
22	normophosphatemic familial tumoral calcinosis	9.0
23	hyperphosphatemic familial tumoral calcinosis, galnt3-related	7.7
24	hyperphosphatemic familial tumoral calcinosis, kl-related	7.7
25	hyperphosphatemic familial tumoral calcinosis, fgf23-related	7.1
26	hyperostosis-hyperphosphatemia syndrome	6.2
27	testicular microlithiasis	6.2

Clinical features from OMIM: 211900

Approved drugs:

Drug clinical trials:

MGI Mouse Phenotypes related to tumoral calcinosis, hyperphosphatemic:

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id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	reproductive system phenotype	MP:0005389	8.5	KL, FGF23, GALNT3
2	limbs/digits/tail phenotype	MP:0005371	8.4	KL, FGF23, GALNT3
3	skeleton phenotype	MP:0005390	8.2	KL, FGF23, GALNT3

Genes related to tumoral calcinosis, hyperphosphatemic according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	FGF23	fibroblast growth factor 23	11.1
2	GALNT3	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	11.0
3	KL	klotho	11.0

Pathways related to tumoral calcinosis, hyperphosphatemic according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Signaling by EGFR38	9.3	KL, FGF23

Biological processes related to tumoral calcinosis, hyperphosphatemic according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	GO:090080	9.3	KL, FGF23
2	fibroblast growth factor receptor signaling pathway	GO:008543	9.2	KL, FGF23
3	carbohydrate metabolic process	GO:005975	9.1	KL, GALNT3
4	insulin receptor signaling pathway	GO:008286	9.0	KL, FGF23