Osteitis Fibrosa malady

Disease Ontology: A bone resorption disease that has material basis in hyperparathyroidism which results in hyperactivity in osteoclasts, deformity, and loss of mass located in bone.⁶

MalaCards: Osteitis Fibrosa, also known as osteitis fibrosa cystica generalisata (disorder), is related to primary hyperparathyroidism and familial isolated hyperparathyroidism. An important gene associated with Osteitis Fibrosa is PDLIM3 (PDZ and LIM domain 3), and among its related pathways are Development_Hedgehog and PTH signaling pathways in bone and cartilage development and Development Hedgehog and PTH signaling pathways in bone and cartilage development. The compounds pge2 and creatinine have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney.

Wikipedia: Osteitis fibrosa cystica (pron.: /ˌɒstiːˈaɪtɨs faɪˈbroʊsə ˈsɪstɨkə/), abbreviated OFC, and...⁴⁴ more...

Aliases & Descriptions:

osteitis fibrosa 6 8 32 osteitis fibrosa cystica generalisata (disorder) 6 von recklinghausen's bone disease 6 hyperparathyroid bone disease 6

osteitis fibrosa disseminata 43 osteitis fibrosa cystica 43 hyperparathyroid 43

Diseases related to osteitis fibrosa by text searches and GeneDecks gene sharing:

(show top 50)    (show all 227)

id	Related Disease	Score	Top Affiliating Genes
1	primary hyperparathyroidism	35.2	BGLAP, ALPP, CASR, CALCA, PTH
2	familial isolated hyperparathyroidism	34.4	CASR, PTH
3	hypocalciuric hypercalcemia	32.0	CASR, CALCA, PTH
4	mccune albright syndrome	31.7	BGLAP, ALPP, GNAS
5	multiple endocrine neoplasia	31.4	GNAS, CASR, CALCA, PTH
6	parathyroid carcinoma	30.4	CASR, PTH
7	pseudohypoparathyroidism	29.7	BGLAP, GNAS, CALCA, PTH
8	uremia	29.5	B2M, CASR, CALCA, PTH
9	humoral hypercalcemia of malignancy	28.3	BGLAP, CASR
10	parathyroid adenoma	28.1	BGLAP, ALPP, GNAS, CASR, CALCA, PTH
11	multiple endocrine neoplasia type 2a	28.0	CALCA, PTH
12	secondary hyperparathyroidism of renal origin	27.7	BGLAP, B2M, ALPP, CASR, CALCA, PTH
13	blindness	27.3	BGLAP, B2M, IL11, CASR, CALCA
14	parathyroid disorders	27.2	CASR, PTH
15	adenoma	27.2	BGLAP, IL11, ALPL, ALPP, ALPPL2, GNAS
16	anemia	27.0	B2M, IL11, ALPL, ALPP, ALPPL2, GNAS
17	ossifying fibroma	27.0	BGLAP, GNAS
18	rickets	26.9	BGLAP, ALPP, CASR, CALCA, PTH
19	hypercalcemia	26.7	BGLAP, B2M, ALPL, ALPP, ALPPL2, CASR
20	clear cell adenoma	26.5	ALPP, PTH
21	hypocalcemia	26.4	BGLAP, ALPP, GNAS, CASR, CALCA, PTH
22	thyroid cancer	26.4	BGLAP, B2M, ALPP, GNAS, CALCA, PTH
23	arterial calcification	26.3	BGLAP, ALPL, CASR
24	thyroiditis	26.1	BGLAP, B2M, IL11, ALPL, ALPP, GNAS
25	goiter	26.1	BGLAP, ALPP, GNAS, CALCA, PTH
26	acromegaly	25.9	BGLAP, GNAS, CALCA, PTH
27	carcinoma	25.9	BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
28	peritonitis	25.8	BGLAP, B2M, IL11, ALPP, CASR, CALCA
29	liver cirrhosis	25.4	BGLAP, B2M, IL11, ALPL, ALPP, CASR
30	mediastinitis	25.1	ALPP, ALPPL2, CALCA, PTH
31	sickle cell disease	25.1	BGLAP, B2M, ALPP, CALCA
32	fibrous dysplasia	25.1	BGLAP, ALPL, ALPP, ALPPL2, GNAS, CALCA
33	renal osteodystrophy	25.0	BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
34	osteoporosis	24.9	BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
35	hyperthyroidism	24.7	BGLAP, B2M, ALPL, ALPP, ALPPL2, GNAS
36	pituitary adenoma	24.5	IL11, ALPP, GNAS, CASR, CALCA
37	obesity	24.5	BGLAP, B2M, IL11, ALPL, ALPP, GNAS
38	pancreatitis	24.4	BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
39	hypoparathyroidism	24.3	BGLAP, ALPP, GNAS, CASR, CALCA, PTH
40	cystic fibrosis	24.1	BGLAP, ALPL, ALPP, ALPPL2, CALCA
41	osteomalacia	24.1	BGLAP, ALPL, ALPP, ALPPL2, GNAS, CASR
42	hepatitis c	23.9	B2M, IL11, ALPL, ALPP, ALPPL2, PDLIM3
43	hyperparathyroidism	23.8	BGLAP, B2M, ALPL, ALPP, ALPPL2, GNAS
44	osteosclerosis	23.6	BGLAP, IL11, ALPL, ALPP, ALPPL2, PTH
45	insulin resistance	23.6	BGLAP, IL11, ALPP, GNAS, CASR, CALCA
46	breast cancer	23.5	BGLAP, B2M, IL11, ALPL, ALPP, ALPPL2
47	hypertension	23.0	BGLAP, B2M, ALPL, ALPP, GNAS, CASR
48	hepatitis	22.6	BGLAP, B2M, IL11, ALPL, ALPP, CASR
49	prostatitis	22.4	BGLAP, B2M, IL11, ALPP, ALPPL2, GNAS
50	uremic neuropathy	13.4	B2M, PTH

Approved drugs:

Drug clinical trials:

MalaCards organs/tissues related to osteitis fibrosa:

²²

FMA organs/tissues related to osteitis fibrosa:

¹¹

Articles related to osteitis fibrosa:

id	Title	Authors	Year	Affiliating Genes
1	Cytokine accumulation in osteitis fibrosa of renal osteodystrophy. (11743611)	Duarte M.E.... Andress D.L.	2002	IL11
2	Inhibition of 1,25(OH)2D production by hypercalcemia in osteitis fibrosa cystica: influence on parathyroid hormone secretion and hun gry bone disease. (8274876)	Brossard J.H.... D'Amour P.	1993	CALCA
3	Pseudohypoparathyroidism with osteitis fibrosa cystica: direct demonstration of skeletal responsiveness to parathyroid hormone in cells cultured from bone. (8427051)	Murray T.M.... Levine M.A.	1993	BGLAP

Genes related to osteitis fibrosa according to GeneCards:

(show all 12)

id	Symbol	Description	Score	GeneCards Section Context
1	PDLIM3	PDZ and LIM domain 3	11.0
2	PTH	parathyroid hormone	11.0
3	GNAS	GNAS complex locus	11.0
4	CASR	calcium-sensing receptor	11.0
5	B2M	beta-2-microglobulin	11.0
6	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
7	ALPPL2	alkaline phosphatase, placental-like 2	11.0
8	IL11	interleukin 11	11.0	Publications
9	KNTC1	kinetochore associated 1	11.0	Disorders
10	ALPL	alkaline phosphatase, liver/bone/kidney	11.0
11	CALCA	calcitonin-related polypeptide alpha	11.0	Publications
12	ALPP	alkaline phosphatase, placental	11.0

Pathways related to osteitis fibrosa according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	9.6	PTH, GNAS, BGLAP
2	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	9.6	BGLAP, GNAS, PTH
3	Class B/2 (Secretin family receptors)38	9.2	GNAS, CALCA, PTH
4	Folate biosynthesis20	9.1	ALPL, ALPP, ALPPL2
5	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.0	PTH, CALCA, BGLAP
6	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.0	BGLAP, CALCA, PTH
7	NAD metabolism41	8.8	ALPPL2, ALPP, ALPL
8	NAD metabolism10	8.6	ALPPL2, ALPP, ALPL

Compounds related to osteitis fibrosa according to GeneDecks:

(show top 50)    (show all 79)

id	Compound	Score	Top Affiliating Genes
1	pge232	10.3	GNAS, CASR
2	creatinine32	9.7	B2M, CASR, PTH, PDLIM3
3	sevelamer32	9.7	CASR, BGLAP
4	22-oxacalcitriol32	9.7	CASR, ALPP, BGLAP
5	tio232	9.6	BGLAP, ALPP
6	methimazole32 9 9	11.4	BGLAP, B2M, ALPP
7	titanium32	9.4	ALPP, IL11, BGLAP
8	amifostine32 9 9	11.4	ALPPL2, ALPL, IL11
9	7,8-dihydroneopterin32 18	10.3	ALPPL2, ALPP, ALPL
10	alizarin32	9.3	BGLAP, ALPL, ALPP
11	dihydroneopterin triphosphate32 18	10.3	ALPPL2, ALPP, ALPL
12	dihydroxyacetone32 18	10.3	ALPPL2, ALPP, ALPL
13	calcium gluconate32	9.3	CALCA, BGLAP
14	thiazide32	9.3	BGLAP, CASR, CALCA
15	levamisole32 9 9	11.2	ALPPL2, ALPP, ALPL
16	etidronic acid32 9 9	11.2	CALCA, ALPP
17	ipriflavone32	9.2	CALCA, ALPP, BGLAP
18	etidronate32	9.1	CALCA, ALPP, BGLAP
19	24,25-dihydroxyvitamin d332	9.1	CALCA, ALPP, BGLAP
20	vitamin k232	9.1	CALCA, ALPP, BGLAP
21	risedronate32 42 9 9	12.1	CALCA, ALPP, BGLAP
22	tartrate32	9.1	CALCA, ALPP, BGLAP
23	sodium fluoride32	9.1	BGLAP, ALPP, CALCA
24	pmma32	9.1	CALCA, ALPP, B2M
25	pyridinoline32	9.0	BGLAP, ALPP, CALCA
26	zoledronic acid32	9.0	BGLAP, ALPP, CALCA
27	hydroxyproline32 18	9.9	PTH, CALCA, ALPP, BGLAP
28	fluoride32	8.8	CALCA, ALPP, B2M, BGLAP
29	thymidine32 18	9.7	PTH, GNAS, ALPP, IL11, B2M
30	acth32	8.7	CALCA, CASR, GNAS, IL11
31	hydroxyapatite32	8.6	CASR, ALPP, ALPL, IL11, BGLAP
32	calcium carbonate32	8.6	PTH, CALCA, ALPP, B2M, BGLAP
33	thyroxine32 18	9.5	BGLAP, B2M, ALPP, CALCA, PTH
34	forskolin32 42 9 9	11.5	PTH, CALCA, CASR, GNAS, IL11
35	deoxypyridinoline32	8.5	PTH, CALCA, ALPP, IL11, BGLAP
36	alendronate32 9 9	10.4	PTH, CALCA, ALPP, IL11, BGLAP
37	alanine32	8.4	CASR, GNAS, ALPP, IL11, B2M, BGLAP
38	pamidronate32 9 9	10.3	BGLAP, B2M, ALPP, CASR, CALCA, PTH
39	25-hydroxyvitamin d32	8.3	PTH, CALCA, CASR, ALPP, B2M, BGLAP
40	phosphorus32	8.3	PTH, CALCA, CASR, ALPP, B2M, BGLAP
41	cyclic amp32 18	9.2	PTH, CALCA, CASR, GNAS, ALPPL2, IL11
42	1,25 dihydroxy vitamin d332	8.1	PTH, CALCA, CASR, ALPP, IL11, BGLAP
43	cyclosporin a32 42	9.0	CALCA, CASR, ALPP, IL11, B2M, BGLAP
44	vegf32	7.9	PTH, CALCA, ALPP, IL11, B2M, BGLAP
45	aspartate32	7.9	ALPP, ALPL, IL11, B2M, BGLAP
46	cysteine32	7.9	CASR, GNAS, ALPP, ALPL, IL11, B2M
47	calcitriol32 42 9 18 9	11.8	PTH, CALCA, CASR, ALPP, IL11, B2M
48	estrogen32	7.7	PTH, CALCA, CASR, ALPP, IL11, B2M
49	vitamin d32	7.2	PTH, CALCA, CASR, ALPP, ALPL, IL11
50	calcium32 9 18 9	9.6	PDLIM3, PTH, CALCA, CASR, GNAS, ALPP

Cellular components related to osteitis fibrosa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	anchored to membrane	GO:031225	8.6	ALPPL2, ALPP, ALPL
2	extracellular region	GO:005576	7.9	BGLAP, B2M, IL11, GNAS, CALCA, PTH
3	extracellular space	GO:005615	7.5	BGLAP, B2M, IL11, ALPL, CALCA, PTH

Biological processes related to osteitis fibrosa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	response to vitamin D	GO:033280	9.5	BGLAP, ALPL
2	skeletal system development	GO:001501	8.9	BGLAP, ALPL, PTH

Molecular functions related to osteitis fibrosa according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	alkaline phosphatase activity	GO:004035	8.9	ALPL, ALPP, ALPPL2