Hyperphosphatemic Familial Tumoral Calcinosis malady

Genetics Home Reference: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a condition characterized by an increase in the levels of phosphate in the blood (hyperphosphatemia) and abnormal deposits of phosphate and calcium (calcinosis) in the body's tissues. Calcinosis typically develops in early childhood to early adulthood, although in some people the deposits first appear in infancy or in late adulthood. Calcinosis usually occurs in and just under skin tissue around the joints, most often the hips, shoulders, and elbows. Calcinosis may also develop in the soft tissue of the feet, legs, and hands. Rarely, calcinosis occurs in blood vessels or in the brain and can cause serious health problems. The deposits develop over time and vary in size. Larger deposits form masses that are noticeable under the skin and can interfere with the function of joints and impair movement. These large deposits may appear tumor-like (tumoral), but they are not tumors or cancerous. The number and frequency of deposits varies among affected individuals; some develop few deposits during their lifetime, while others may develop many in a short period of time.¹⁷

MalaCards: Hyperphosphatemic Familial Tumoral Calcinosis, also known as tumoral calcinosis, hyperphosphatemic, familial, is related to hyperphosphatemia and familial tumoral calcinosis. An important gene associated with Hyperphosphatemic Familial Tumoral Calcinosis is GALNT3 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)), and among its related pathways is Signaling by EGFR. Affiliated tissues include brain and skin, and related mouse phenotypes are reproductive system and limbs/digits/tail.

OMIM: 211900

hyperphosphatemic familial tumoral calcinosis 30 17 tumoral calcinosis, hyperphosphatemic, familial 30 33 43 hftc 30 17 primary hyperphosphatemic tumoral calcinosis 17

hyperphosphatemia tumoral calcinosis 17 hyperphosphatemia hyperostosis 17 tumoral calcinosis 43 hyperphosphatemia 43

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

(show all 30)

id	Related Disease	Score	Top Affiliating Genes
1	hyperphosphatemia	32.4	KL, FGF23, GALNT3
2	familial tumoral calcinosis	32.0	GALNT3, FGF23
3	calcinosis	31.2	GALNT3, FGF23, KL
4	tumoral calcinosis, hyperphosphatemic	30.6	KL, FGF23
5	hyperostosis	28.7	KL, FGF23, GALNT3
6	hypophosphatemia	26.7	KL, FGF23
7	periostitis	12.6	KL, GALNT3
8	hypervitaminosis d	12.4	KL, FGF23
9	familial hypophosphatemia	12.4	KL, FGF23
10	pulmonary emphysema	12.4	FGF23, KL
11	hypercalciuria	12.3	KL, FGF23
12	hereditary hypophosphatemic rickets	12.3	FGF23, GALNT3
13	osteomalacia	12.3	KL, FGF23
14	rickets	12.3	FGF23, KL
15	primary hyperparathyroidism	12.2	KL, FGF23
16	hypercalcemia	12.2	KL, FGF23
17	secondary hyperparathyroidism of renal origin	12.1	FGF23, KL
18	osteoporosis	12.1	KL, FGF23
19	hyperparathyroidism	12.0	KL, FGF23
20	aldosteronism	11.8	KL, FGF23
21	bilirubin metabolic disorder	11.8	GALNT3, FGF23, KL
22	normophosphatemic familial tumoral calcinosis	9.0
23	hyperphosphatemic familial tumoral calcinosis, kl-related	9.0
24	hyperphosphatemic familial tumoral calcinosis, fgf23-related	9.0
25	hyperphosphatemic familial tumoral calcinosis, galnt3-related	9.0
26	hyperostosis-hyperphosphatemia syndrome	7.1
27	kidney disease	6.9
28	testicular microlithiasis	6.2
29	calciphylaxis	5.4
30	hyperlipidemia	5.4

Clinical features from OMIM: 211900

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to hyperphosphatemic familial tumoral calcinosis:

²²

MGI Mouse Phenotypes related to hyperphosphatemic familial tumoral calcinosis:

²⁵

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

Articles related to hyperphosphatemic familial tumoral calcinosis:

id	Title	Authors	Year	Affiliating Genes
1	GALNT3, a gene associated with hyperphosphatemic familial tumoral calcinosis, is transcriptionally regulated by extracellular phosphate and modulates matrix metalloproteinase activity. (18976705)	Chefetz I.... Sprecher E.	2009	GALNT3
2	Hyperphosphatemic familial tumoral calcinosis caused by a mutation in GALNT3 in a European kindred. (16528452)	Specktor P.... Sprecher E.	2006	GALNT3

Genes related to hyperphosphatemic familial tumoral calcinosis according to GeneCards:

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

Pathways related to hyperphosphatemic familial tumoral calcinosis according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Signaling by EGFR38	9.1	KL, FGF23

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

id	Name	GO ID	Score	Top Affiliating Genes
1	carbohydrate metabolic process	GO:005975	9.3	KL, GALNT3
2	positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway	GO:090080	9.1	KL, FGF23
3	fibroblast growth factor receptor signaling pathway	GO:008543	9.0	KL, FGF23
4	insulin receptor signaling pathway	GO:008286	8.8	KL, FGF23