Hyperostosis-hyperphosphatemia Syndrome malady

MalaCards: Hyperostosis-hyperphosphatemia Syndrome, also known as cortical hyperostosis with hyperphosphatemia, is related to hyperostosis and hyperphosphatemia. An important gene associated with Hyperostosis-hyperphosphatemia Syndrome is GALNT3 (UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)). The compound heparin have been mentioned in the context of this disorder.

hyperostosis-hyperphosphatemia syndrome 30 43 cortical hyperostosis with hyperphosphatemia 30

hyperostosis with hyperphosphatemia 30 hhs 30

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

(show all 27)

id	Related Disease	Score	Top Affiliating Genes
1	hyperostosis	31.9	FGF23, GALNT3
2	hyperphosphatemia	31.8	GALNT3, FGF23
3	familial tumoral calcinosis	29.4	FGF23, GALNT3
4	calcinosis	28.8	FGF23, GALNT3
5	hyperphosphatemic familial tumoral calcinosis	12.2	GALNT3, FGF23
6	tumoral calcinosis, hyperphosphatemic	12.2	GALNT3, FGF23
7	hereditary hypophosphatemic rickets	12.1	GALNT3, FGF23
8	bilirubin metabolic disorder	12.0	FGF23, GALNT3
9	bag3-related dilated cardiomyopathy	6.2
10	carcinoma	6.2
11	hemochromatosis	6.2
12	hypogonadism, hypergonadotropic	6.2
13	isolated gonadotropin-releasing hormone (gnrh) deficiency	6.2
14	multiple sclerosis	5.3
15	pancreatitis	5.3
16	testicular germ cell tumor	5.3
17	arthropathy	5.3
18	bombay phenotype	5.3
19	breast cancer	5.3
20	colon carcinoma	5.3
21	germ cell tumor	5.3
22	hernia	5.3
23	hiatus hernia	5.3
24	hypotrichosis simplex	5.3
25	hypogonadotropic hypogonadism 13 with or without anosmia	5.3
26	hypogonadotropic hypogonadism 9 with or without anosmia	5.3
27	lung carcinoma	5.3

Approved drugs:

Drug clinical trials:

Articles related to hyperostosis-hyperphosphatemia syndrome:

id	Title	Authors	Year	Affiliating Genes
1	Newly discovered mutations in the GALNT3 gene causing autosomal recessive hyperostosis-hyperphosphatemia syndrome. (19297793)	Gok F.... Sprecher E.	2009	GALNT3
2	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
3	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
4	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

Genes related to hyperostosis-hyperphosphatemia syndrome 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	Publications
3	GTDC2	glycosyltransferase-like domain containing 2	10.1	Publications

Compounds related to hyperostosis-hyperphosphatemia syndrome according to GeneDecks:

id	Compound	Score	Top Affiliating Genes
1	heparin32 9 18 9	12.1	GTDC2, FGF23