Osteopetrosis malady

NIH Rare Diseases: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms. Mutations in at least nine genes cause the various types of osteopetrosis.³⁰

MalaCards: Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis autosomal dominant type 2 and renal tubular acidosis. An important gene associated with Osteopetrosis is OSTM1 (osteopetrosis associated transmembrane protein 1), and among its related pathways are RANK Pathway and TRAIL Pathway. The drug interferon gamma-1b and the compounds polyethylene and pge2 have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, whole blood and spleen, and related mouse phenotypes are pigmentation and endocrine/exocrine gland.

Disease Ontology: An osteosclerosis that has material basis in lack of bone resorption which results in abnormally hard and brittle bones.⁶

Genetics Home Reference: Osteopetrosis is a bone disease that makes bones abnormally dense and prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant, autosomal recessive, or X-linked. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.¹⁷

Wikipedia: Osteopetrosis, literally \"stone bone\", also known as marble bone disease and Albers-Schonberg disease...⁴⁴ more...

Aliases & Descriptions:

osteopetrosis 6 7 30 17 8 32 albers-schonberg disease 6 30 43 marble bone disease 30 17 osteopetroses 30 17 albers-schonberg osteopetrosis 30

albers-schoenberg disease 30 congenital osteopetrosis 17 osteosclerosis fragilis 30 marble bones 30 marble bone 6

Disease types for osteopetrosis family:

osteopetrosis, ad type i

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

(show top 50)    (show all 238)

id	Related Disease	Score	Top Affiliating Genes
1	osteopetrosis autosomal dominant type 2	32.8	CLCN7, BGLAP, TNFSF11
2	renal tubular acidosis	31.1	ATP6V1G1, ATP6V1B1, ATP6V0D1, ATP4A, ATP6V1C2, ATP6V0A4
3	osteopetrosis, recessive 1	29.4	IRG1, TCIRG1
4	pycnodysostosis	28.6	MITF, IGF1, CTSK, TFE3, TFEB, TFEC
5	microphthalmia	28.0	CLCN4, MITF, IKBKG, TNFSF11, CTSK, NFATC1
6	cerebritis	25.1	BGLAP, CKB, ATP6V1B2, ITGB3, IL7, IKBKG
7	hypercalcemia	24.7	BGLAP, IGF1, IFNG, CALCA, TNF, TNFRSF11A
8	thrombocytopenia	24.1	ITGB3, IL7, IFNG, GOT1, TNF, PLEK
9	osteoporosis	21.8	LRP5, CLCN7, BGLAP, KHDRBS3, ATP4A, ATP12A
10	immunodeficiency	20.6	BGLAP, KHDRBS3, ATP6V0A2, ATP6V1H, ITGB3, IL7
11	thyroiditis	20.5	BGLAP, KHDRBS3, LDHB, ITGB3, IL7, IGF1
12	polyostotic osteolytic dysplasia, hereditary expansile	13.8	TNFRSF11A, TNFRSF11B, TNFSF11
13	mayer-rokitansky-kuster-hauser syndrome	13.7	LRP5, CLCN7, CA2, TNFRSF11A, TNFSF11, PLEKHM1
14	camurati-engelmann disease	13.7	LRP5, BGLAP, ACP5
15	villonodular synovitis	13.7	BGLAP, TNFRSF11B, TNFSF11, ACP5
16	nephrocalcinosis	13.7	CLCN1, CLCN7, ATP6V1B1, ATP6V0A4, CA2
17	osteosclerosis	13.6	LRP5, BGLAP, TNFRSF11A, TNFRSF11B, TNFSF11, CTSK
18	paget disease, juvenile	13.6	CALCA, TNFRSF11A, TNFRSF11B, TNFSF11
19	bone resorption disease	13.6	TNFRSF11A, TNFSF11
20	idiopathic juvenile osteoporosis	13.5	LRP5, BGLAP, CALCA
21	dent disease	13.5	CLCN1, CLCN4, CLCN7, BGLAP
22	waardenburg syndrome type 2a	13.5	MITF, TFE3
23	renal tubular acidosis, distal	13.4	ATP6V1B1, ATP6V0A4, CA2, DNAH8
24	bartter disease	13.4	CLC, CLCN1, CLCN7
25	transsexualism	13.4	BGLAP, CALCA, TNFRSF11B, TNFSF11
26	dressler's syndrome	13.4	CKB, LDHC
27	x-linked magnesium deficiency with epstein-barr virus infection and neoplasia	13.4	BGLAP, TNFRSF11A, TNFSF11, DNAH8
28	mammary paget's disease	13.4	BGLAP, CALCA, TRIP6, TNFRSF11B, TNFSF11
29	humoral hypercalcemia of malignancy	13.4	BGLAP, TNF, TNFRSF11A, TNFSF11
30	pigmented villonodular synovitis	13.3	BGLAP, ATP6V1B2, TNFRSF11B, TNFSF11, ACP5, CSF1
31	multicentric reticulohistiocytosis	13.3	TNF, TNFRSF11B, TNFSF11, CSF1
32	giant cell tumor	13.2	BGLAP, MITF, CA2, CALCA, TNFRSF11A, TNFRSF11B
33	osteonecrosis	13.2	LRP5, BGLAP, CALCA, TNFRSF11B, TNFSF11, ACP5
34	ankylosing spondylitis	13.2	BGLAP, TNF, TNFRSF11B, TNFSF11
35	osteomalacia	13.2	BGLAP, KHDRBS3, ATP6V1B1, CALCA, TNFRSF11B
36	bone cancer	13.2	ATP6V1A, CALCA, TNFRSF11A, TNFRSF11B, TNFSF11, CTSK
37	cherubism	13.1	CALCA, TNFSF11, SRC, NFATC1, CSF1
38	gastric antral vascular ectasia	13.1	ATP4A, ATP12A, EPO
39	arterial calcification	13.1	BGLAP, TNF, TNFRSF11B, TNFSF11, RUNX2
40	nephrolithiasis	13.1	CLC, CLCN3, CLCN4, CLCN7, BGLAP, CALCA
41	hypophosphatasia	13.0	KHDRBS3, CALCA, DSPP, RUNX2
42	hypercalciuria	13.0	BGLAP, ATP6V1B1, CALCA, TNF, TNFSF11
43	joint disorders	13.0	TNF, TNFRSF11B, TNFSF11, DSPP, CSF1
44	periodontal disease	12.9	BGLAP, TNF, TNFRSF11A, TNFRSF11B, TNFSF11, DSPP
45	root resorption	12.9	CALCA, TNFRSF11A, TNFRSF11B, TNFSF11, CTSK, ACPP
46	hyperostosis	12.9	LRP5, BGLAP, IGF1, TNFRSF11B
47	renal osteodystrophy	12.9	BGLAP, CALCA, TNFRSF11B, TNFSF11, ACP5, EPO
48	scoliosis	12.8	BGLAP, IGF1, TNFRSF11A, TNFRSF11B, TNFSF11, RUNX2
49	breast adenocarcinoma	12.8	TNF, TNFSF11, CTSK, DSPP, CSF1
50	paget's disease of bone	12.8	BGLAP, CALCA, TNF, TNFRSF11A, TNFRSF11B, TNFSF11

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 interferon gamma-1b

MalaCards organs/tissues related to osteopetrosis:

²²

MGI Mouse Phenotypes related to osteopetrosis:

²⁵ (show all 14)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	pigmentation phenotype	MP:0001186	9.6	OSTM1, TFEC, TFEB, TFE3, SRC, IKBKG
2	endocrine/exocrine gland phenotype	MP:0005379	8.9	CSF1R, TCIRG1, CTSK, IFNG, MITF, LDHC
3	growth/size phenotype	MP:0005378	8.0	SRC, CTSK, TYROBP, TFE3, TCIRG1, OSTM1
4	limbs/digits/tail phenotype	MP:0005371	7.9	NFATC1, ACP5, TYROBP, TCIRG1, CSF1, CSF1R
5	reproductive system phenotype	MP:0005389	7.7	TNFSF11, SRC, CSF1, CSF1R, TNFRSF11A, TNF
6	craniofacial phenotype	MP:0005382	7.3	TYROBP, DSPP, TFE3, TCIRG1, OSTM1, CSF1
7	vision/eye phenotype	MP:0005391	7.0	TFE3, TFEB, TFEC, OSTM1, CSF1, CSK
8	skeleton phenotype	MP:0005390	6.7	CLCN1, NFATC1, ACP5, TYROBP, TFE3, TFEB
9	immune system phenotype	MP:0005387	5.4	TNFSF11, SRC, CTSK, NFATC1, ACP5, TYROBP
10	integument phenotype	MP:0010771	5.3	NFATC1, ACPP, TFE3, TFEB, TFEC, OSTM1
11	cellular phenotype	MP:0005384	5.3	TNFSF11, SRC, NFATC1, TYROBP, TCIRG1, CSF1
12	hematopoietic system phenotype	MP:0005397	5.0	NFATC1, PLEK, CTSK, SRC, TNFSF11, TYROBP
13	mortality/aging	MP:0010768	4.9	TFE3, NFATC1, SRC, TNFSF11, TNFRSF11B, TNFRSF11A
14	homeostasis/metabolism phenotype	MP:0005376	4.5	TNFRSF11A, TNFSF11, CTSK, PLEK, NFATC1, TYROBP

Articles related to osteopetrosis:

(show top 50)    (show all 104)

id	Title	Authors	Year	Affiliating Genes
1	Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients. (21042819)	Yuan P.... Wang Y.	2011	TCIRG1
2	Molecular and clinical heterogeneity in CLCN7-depende nt osteopetrosis: report of 20 novel mutations. (19953639)	Pangrazio A.... Sobacchi C.	2010	CLCN7
3	Novel mutations in Indian patients with autosomal rec essive infantile malignant osteopetrosis. (20424301)	Phadke S.R.... Kornak U.	2010	CLCN7, TCIRG1
4	The G215R mutation in the Cl-/H+-antiporter ClC-7 fou nd in ADO II osteopetrosis does not abolish function but causes a severe traffi cking defect. (20830208)	Schulz P.... Fendler K.	2010	CLCN7
5	Osteopetrosis due to homozygous chloride channel ClCN 7 mutation mimicking metabolic disease with haematological and neurological imp airment. (19904698)	Furthner D.... Schulz A.S.	2010	CLCN7
6	A single-center experience in 20 patients with infant ile malignant osteopetrosis. (19507210)	Mazzolari E.... Notarangelo L.D.	2009	CLCN7, TNFRSF11A, TCIRG1
7	Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. (19172990)	Bliznetz E.A.... Polyakov A.V.	2009	TCIRG1
8	A novel CLCN7 mutation resulting in a most severe for m of autosomal recessive osteopetrosis. (19238435)	Besbas N.... Ozaltin F.	2009	OSTM1
9	Rare gross deletion in T-cell immune regulator-1 gene in Iranian family with infantile malignant osteopetrosis. (18946580)	Abbaszadegan M.R.... Velayati A.	2008	TCIRG1
10	Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. (18606301)	Guerrini M.M.... Frattini A.	2008	TNF, TNFSF11, TNFRSF11A
11	DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity. (17033731)	Lam C.-W.... Chan M.H.-M.	2007	CLCN7
12	Molecular study of six families originating from the Middle-East and presenting with autosomal recessive osteopetrosis. (17400532)	Souraty N.... Megarbane A.	2007	TCIRG1, OSTM1
13	Polymorphisms in the CLCN7 gene modulate bone density in postmenopausal women and in patients with autosomal dominant osteopetrosis type II. (16368748)	Kornak U.... de Vernejoul M.C.	2006	CLCN7
14	Malignant infantile osteopetrosis: dental effects in paediatric patients. Case reports. (16646644)	Luzzi V.... Polimeni A.	2006	DSPP
15	Osteoclasts from patients with autosomal dominant osteopetrosis type I caused by a T253I mutation in low-density lipoprotein receptor-related protein 5 are normal in vitro, but have decreased resorption capacity in vivo. (16251418)	Henriksen K.... Karsdal M.A.	2005	LRP5
16	Intrafamilial phenotypic variability of osteopetrosis due to chloride channel 7 (CLCN7) mutations. (15633192)	Campos-Xavier A.B.... Cormier-Daire V.	2005	CLCN7
17	Carbonic anhydrase II deficiency: a rare autosomal recessive disorder of osteopetrosis, renal tubular acidosis, and cerebral calcification. (15701991)	Cotter M.... McMahon C.	2005	CA2
18	Osteoclast-derived serum tartrate-resistant acid phosphatase 5b in Albers-Schonberg disease (type II autosomal dominant osteopetrosis). (15016726)	Alatalo S.L.... Halleen J.M.	2004	CLCN7
19	Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype- phenotype correlation. (15300855)	Shah G.N.... Sly W.S.	2004	CA2
20	Identification of a novel mutation in the coding region of the grey-lethal gene OSTM1 in human malignant infantile osteopetrosis. (15108279)	Ramirez A.... Kubisch C.	2004	OSTM1
21	Characterization of osteoclasts from patients harboring a G215R mutation in ClC-7 causing autosomal dominant osteopetrosis type II. (15111300)	Henriksen K.... Karsdal M.A.	2004	CLCN7
22	A phenocopy of CAII deficiency: a novel genetic explanation for inherited infantile osteopetrosis with distal renal tubular acidosis. (12566520)	Borthwick K.J.... Karet F.E.	2003	CA2, TCIRG1
23	Novel mutations in the TCIRG1 gene encoding the a3 subunit of the vacuolar proton pump in patients affected by infantile malignant osteopetrosis. (12552563)	Scimeca J.-C.... Carle G.F.	2003	TCIRG1, ATP6V0E2
24	Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. (14584882)	Frattini A.... Villa A.	2003	CLCN7, TCIRG1
25	Osteoclast morphology in autosomal recessive malignant osteopetrosis due to a TCIRG1 gene mutation. (12687885)	Bruder E.... Vezzoni P.	2003	TCIRG1
26	Macrophage colony-stimulating factor and receptor activator NF-kappaB ligand fail to rescue osteoclast-poor human malignant infantile osteopetrosis in vitro. (11792569)	Flanagan A.M.... Steward C.G.	2002	TNFSF11, CSF1
27	Novel mutations in the a3 subunit of vacuolar H(+)-adenosine triphosphatase in a Japanese patient with infantile malignant osteopetrosis. (11856654)	Michigami T.... Ozono K.	2002	TCIRG1
28	The mutational spectrum of human malignant autosomal recessive osteopetrosis. (11532986)	Sobacchi C.... Villa A.	2001	TCIRG1
29	Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers. (11795660)	Ocal G.... EvliyaoA9lu O.	2001	CA2
30	Linking osteopetrosis and pycnodysostosis: regulation of cathepsin K expression by the microphthalmia transcription factor family. (11331755)	Motyckova G.... Fisher D.E.	2001	CTSK, MITF, TFE3
31	Albers-Schonberg disease (autosomal dominant osteopetrosis, type II) results from mutations in the ClCN7 chloride channel gene. (11741829)	Cleiren E.... Van Hul W.	2001	CLCN7
32	A benign form of osteopetrosis. Case report (11699297)	Kilian O.... Schnettler R.	2001	CTSK
33	Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. (11207362)	Kornak U.... Jentsch T.J.	2001	CLCN7
34	Long-term follow-up of two children with a variant of mild autosomal recessive osteopetrosis undergoing bone marrow transplantation. (10918435)	Dini G.... Morreale G.	2000	CALCA
35	Locus heterogeneity of autosomal dominant osteopetrosis (ADO). (10084593)	White K.E.... Econs M.J.	1999	CLCN7
36	Cathepsin K knockout mice develop osteopetrosis due to a deficit in matrix degradation but not demineralization. (10491212)	Gowen M.... Kola I.	1999	CTSK
37	Localization of a gene for autosomal dominant osteopetrosis (Albers-SchAPnberg disease) to chromosome 1p21. (9311741)	Van Hul W.... Willems P.J.	1997	CSF1
38	Correction of anaemia and thrombocytopenia in a case of adult type I osteopetrosis with recombinant human erythropoietin (rHuEPO). (7772533)	Meletis J.... Yataganas X.	1995	EPO
39	Collagen metabolism in two types of autosomal dominan t osteopetrosis during stimulation with thyroid hormones. (7581985)	Bollerslev J.... seland O.	1995	KHDRBS3
40	Growth hormone and IGF1 profile in short children with osteopetrosis. (8174311)	l Herbish A.S.... Mahdi A.H.	1994	IGF1
41	Malignant osteopetrosis: c-src kinase is not reduced in fibroblasts. (7688650)	Meyerson G.... PAYhlman S.	1993	SRC, CSK
42	Case report 718. Osteopetrosis with carbonic anhydrase II deficiency. (1566113)	Eddy R.... Genant H.	1992	CA2
43	Circulating macrophage colony-stimulating factor is not reduced in malignant osteopetrosis. (1577090)	Orchard P.J.... Key L.L.	1992	CSF1
44	Recombinant human interferon gamma therapy for osteopetrosis. (1320672)	Key L.L.... Hatcher H.C.	1992	IFNG
45	Recessive osteopetrosis. Identification of a form of medium severity (1476480)	Bejaoui M.... Ben Dridi M.F.	1992	CA2
46	Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. (1959222)	Sly W.S.... Zhu X.L.	1991	CA2
47	Elevated serum levels of creatine kinase BB in autosomal dominant osteopetrosis type II. (2070279)	Gram J.... Bollerslev J.	1991	CKB
48	Syndrome associating: osteopetrosis, tubular acidosis, mental retardation and cerebral calcifications due to carbonic anhydrase II deficiency. Apropos of 3 cases in the siblings (1904705)	Bejaoui M.... Lakhoua R.	1991	CA2
49	The syndrome of osteopetrosis, renal acidosis and cerebral calcification in two sisters. (3221988)	Al Rajeh S.... Ozaksoy D.	1988	CA2
50	Carbonic anhydrase II deficiency syndrome: recessive osteopetrosis with renal tubular acidosis and cerebral calcification. (3081869)	Ohlsson A.... Sly W.S.	1986	CA2

Genes related to osteopetrosis according to GeneCards:

(show top 50)    (show all 77)

id	Symbol	Description	Score	GeneCards Section Context
1	OSTM1	osteopetrosis associated transmembrane protein 1	11.1	Proteins, Orthologs, Transcripts, Domains & Families (show all 7 sections) Aliases & Descriptions, Publications, Summaries
2	CLCN7	chloride channel, voltage-sensitive 7	11.1	Publications, Orthologs, Summaries
3	ATP6V0A2	ATPase, H+ transporting, lysosomal V0 subunit a2	11.1	Aliases & Descriptions, Orthologs, Summaries
4	CA2	carbonic anhydrase II	11.1	Summaries, Publications
5	TNFSF11	tumor necrosis factor (ligand) superfamily, member 11	11.1	Summaries, Publications
6	TCIRG1	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	11.1	Summaries, Orthologs, Publications
7	TNFRSF11A	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	11.1	Summaries, Publications
8	PLEKHM1	pleckstrin homology domain containing, family M (with RUN domain) member 1	11.1	Summaries, Publications
9	ATP6V0E2	ATPase, H+ transporting V0 subunit e2	11.0	Summaries, Publications
10	ATP6V1G2	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2	11.0	Summaries
11	ATP6V1G1	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1	11.0	Summaries
12	ATP6V1E2	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	11.0	Summaries
13	ATP6V1F	ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F	11.0	Summaries
14	ATP6V0A1	ATPase, H+ transporting, lysosomal V0 subunit a1	11.0	Summaries, Orthologs
15	ATP6V0B	ATPase, H+ transporting, lysosomal 21kDa, V0 subunit b	11.0	Summaries
16	ATP6V0C	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	11.0	Summaries
17	ATP6V1G3	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	11.0	Summaries
18	ATP6V0E1	ATPase, H+ transporting, lysosomal 9kDa, V0 subunit e1	11.0	Publications, Summaries
19	ATP6V1D	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	11.0	Summaries
20	ATP6V1C2	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	11.0	Summaries
21	ATP6V1B1	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	11.0	Summaries
22	ATP6V1A	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	11.0	Summaries
23	ATP6V1E1	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1	11.0	Summaries
24	ATP6V1B2	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	11.0	Summaries
25	ATP6V0D2	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	11.0	Summaries
26	ATP6V0A4	ATPase, H+ transporting, lysosomal V0 subunit a4	11.0	Orthologs, Summaries
27	ATP6V0D1	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1	11.0	Summaries
28	ATP6V1C1	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1	11.0	Summaries
29	ATP6V1H	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	11.0	Summaries
30	LRP5	low density lipoprotein receptor-related protein 5	11.0	Publications
31	IRG1	immunoresponsive 1 homolog (mouse)	11.0
32	CTSK	cathepsin K	11.0	Publications
33	IKBKG	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	11.0	Publications
34	CSF1	colony stimulating factor 1 (macrophage)	11.0	Publications
35	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
36	CSK	c-src tyrosine kinase	11.0	Publications
37	MITF	microphthalmia-associated transcription factor	11.0	Publications
38	IL7	interleukin 7	11.0
39	RUNX2	runt-related transcription factor 2	11.0
40	SRC	v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian)	11.0	Publications
41	TNFRSF11B	tumor necrosis factor receptor superfamily, member 11b	11.0
42	MIR4315-1	microRNA 4315-1	11.0	Disorders
43	CLEC11A	C-type lectin domain family 11, member A	11.0	Publications
44	ADO	2-aminoethanethiol (cysteamine) dioxygenase	11.0
45	LDHD	lactate dehydrogenase D	11.0	Publications
46	TFE3	transcription factor binding to IGHM enhancer 3	11.0	Publications
47	CLC	Charcot-Leyden crystal protein	11.0
48	ACP5	acid phosphatase 5, tartrate resistant	11.0	Publications
49	GOT1	glutamic-oxaloacetic transaminase 1, soluble (aspartate aminotransferase 1)	11.0	Publications
50	LDHB	lactate dehydrogenase B	11.0	Publications

Pathways related to osteopetrosis according to GeneDecks:

(show all 26)

id	Pathway	Score	Top Affiliating Genes
1	RANK Pathway36	10.4	SRC, TNFSF11, TNFRSF11A, IKBKG
2	TRAIL Pathway36	10.4	IKBKG, TNFRSF11A, TNFRSF11B, TNFSF11
3	Metabolic States and Circadian Oscillators36	10.2	LDHD, LDHC, LDHB
4	Lysosome20	10.1	ATP6V0C, CTSK, ACP5, TCIRG1, ATP6V0A1, ATP6V0B
5	RANK Signaling in Osteoclasts36	10.1	NFATC1, SRC, TNFSF11, TNFRSF11A, IKBKG, MITF
6	TNF Superfamily Pathway36	9.8	SRC, TNFSF11, TNFRSF11B, TNFRSF11A, TNF, IKBKG
7	Apoptosis and survival_Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway41	9.8	TNFSF11, TNFRSF11A, TNF, IKBKG
8	TRAF Pathway36	9.8	SRC, TNFSF11, TNFRSF11A, TNF, IKBKG
9	Apoptosis and survival Anti-apoptotic TNFs/NF-kB/Bcl-2 pathway10	9.7	TNFSF11, TNFRSF11A, TNF, IKBKG
10	Vibrio cholerae infection20	9.7	ATP6V0D2, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP6V1G3, ATP6V0E1
11	Transferrin endocytosis and recycling38	9.6	ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V1G2, ATP6V0A1, ATP6V0B
12	Collecting duct acid secretion20	9.6	ATP6V0E2, ATP6V1C2, ATP4A, ATP6V0D1, ATP6V1B1, ATP6V1G1
13	STAT3 Pathway36	9.5	CSF1R, CSF1, SRC, TNFSF11, TNFRSF11A, TNF
14	Epithelial cell signaling in Helicobacter pylori infection20	9.3	CSK, TCIRG1, SRC, IKBKG, ATP6V1D, ATP6V1E2
15	Akt Signaling36	9.3	CSF1, TNFSF11, TNFRSF11A, TNF, IKBKG, IL7
16	Oxidative phosphorylation20	9.3	TCIRG1, ATP6V0C, ATP6V1D, ATP6V1E2, ATP6V0A4, ATP6V0E2
17	Phagosome20	9.2	ATP6V1E1, ATP6V1G3, ATP6V0E1, ATP6V1D, ATP6V1E2, ATP6V0A4
18	Hematopoietic cell lineage20	8.9	EPO, CSF1R, CSF1, TNF, IL7, ITGB3
19	Metabolic pathways20	8.9	ATP6V1C1, ATP6V0A4, ATP6V0E2, ATP6V1C2, ATP6V0D1, ATP6V1B1
20	Tuberculosis20	8.8	ATP6V0C, IFNG, TNF, SRC, TCIRG1, ATP6V0A1
21	Cytokine-cytokine receptor interaction20	8.4	EPO, CSF1R, CSF1, TNFSF11, TNFRSF11B, TNFRSF11A
22	T cell receptor signaling pathway20	8.3	VAV3, IKBKG, IFNG, TNF, NFATC1
23	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	8.2	RUNX2, TNFSF11, TNFRSF11B, TNFRSF11A, TNF, CALCA
24	Transcription Role of VDR in regulation of genes involved in osteoporosis10	8.1	TNFRSF11A, TNFRSF11B, TNFSF11, RUNX2, TNF, CALCA
25	Rheumatoid arthritis20	7.9	CSF1, TCIRG1, ACP5, CTSK, ATP6V1B2, ATP6V1E1
26	Osteoclast differentiation20	7.7	CSF1R, ITGB3, MITF, CSF1, TYROBP, ACP5

Compounds related to osteopetrosis according to GeneDecks:

(show top 50)    (show all 92)

id	Compound	Score	Top Affiliating Genes
1	polyethylene32	10.5	TNFRSF11B, CTSK, TNFSF11, TNFRSF11A
2	pge232	10.5	TNFRSF11A, TNFRSF11B, CSK, CA2, TNFSF11, RUNX2
3	denosumab32	10.4	TNFSF11, TNFRSF11B, TNFRSF11A, CALCA
4	strontium ranelate32	10.4	CTSK, TNFSF11, CALCA, RUNX2
5	teriparatide32 9 9	12.3	BGLAP, TNFSF11, TNFRSF11B, CALCA, CTSK
6	vitamin k232	10.3	BGLAP, CALCA, TNFSF11, CSF1, TNFRSF11B
7	ibandronate32 9 9	12.3	TNFRSF11B, CALCA, BGLAP, TNFSF11
8	clodronate32 9 9	12.2	CALCA, TNFRSF11B, TNFSF11, BGLAP, ACP5
9	hydroxyapatite32	10.0	TNFSF11, TNFRSF11B, ACP5, DSPP, TNFRSF11A, BGLAP
10	titanium32	10.0	ITGB3, TNFRSF11B, TNFSF11, RUNX2, ACP5, BGLAP
11	risedronate32 42 9 9	13.0	BGLAP, TNFRSF11B, TNFSF11, CALCA
12	pmma32	10.0	DSPP, ACP5, TNFRSF11B, CALCA, TNFSF11
13	chloride32	9.8	CSF1, CSK, CLCN3, CTSK, CA2, CLCN7
14	pamidronate32 9 9	11.7	TNFSF11, TNFRSF11B, CALCA, BGLAP
15	deoxypyridinoline32	9.7	BGLAP, KHDRBS3, IGF1, TNFRSF11B, TNFSF11, ACP5
16	tartrate32	9.6	TNFSF11, CTSK, CALCA, BGLAP, ACPP, DSPP
17	pyridinoline32	9.6	IGF1, BGLAP, CALCA, TNFRSF11B, ACP5
18	25-hydroxyvitamin d32	9.6	TNFSF11, BGLAP, TNFRSF11B, CALCA, IGF1, ACP5
19	ns 39832 42	10.5	TNF, TNFRSF11B, TNFSF11, BGLAP, CSF1
20	raloxifene32 9 9	11.5	TNFRSF11A, SRC, TNFRSF11B, TNFSF11, CALCA, CKB
21	procollagen32	9.5	RUNX2, ACP5, TNFRSF11B, IGF1, BGLAP, TNFSF11
22	zoledronic acid32	9.4	BGLAP, IFNG, CALCA, TNFRSF11B, CTSK, SRC
23	nandrolone decanoate32 9 9	11.3	CALCA, IGF1, BGLAP, EPO
24	alendronate32 9 9	11.3	CALCA, RUNX2, BGLAP, DSPP, TNFSF11, TNFRSF11B
25	bafilomycin a132 42 9 9	12.3	ATP6V0A4, ATP6V0E2, ATP6V1C2, ATP6V0D1, ATP6V1B1, ATP6V1G1
26	hydrogen32 18	10.0	CTSK, TNFSF11, CA2, ATP12A, ATP6V0E1, ATP6V0E2
27	Adenosine triphosphate9 18 9	11.0	CKB, ATP6V1G1, ATP6V1B1, ATP6V0D1, ATP4A, ATP6V1C2
28	etanercept32 9 9	10.9	TNF, TNFRSF11B, TNFSF11, IFNG, CSF1
29	cysteine32	8.8	SRC, BGLAP, IFNG, CA2, TNFSF11, CTSK
30	1,25 dihydroxy vitamin d332	8.7	TNFSF11, TNFRSF11A, CALCA, IGF1, ITGB3, BGLAP
31	aspartate32	8.7	CA2, TNFRSF11B, SRC, CTSK, PLEK, ACP5
32	tacrolimus32 34 9 9	11.6	TNF, ACP5, NFATC1, SRC, TNFSF11, IFNG
33	concanamycin a42 32	9.4	ATP6V0E1, ATP6V1F, ATP6V1C1, ATP6V0C, DNAH8, ATP6V1G2
34	estrogen32	8.4	LRP5, DSPP, RUNX2, CSK, ACPP, CALCA
35	creatinine32	8.2	DNAH8, EPO, CSF1, IGF1, ACPP, CKB
36	lactate32	8.1	DSPP, CALCA, LDHC, LDHB, EPO, ACPP
37	indomethacin32 9 9	9.9	TNF, CSF1, IFNG, CALCA, SRC, PLEK
38	sb 20358032 42	8.9	SRC, NFATC1, IFNG, TNF, IGF1, TNFRSF11B
39	hydrocortisone32 9 9	9.8	TNF, TNFRSF11B, CALCA, IFNG, IGF1, IL7
40	phosphatidylinositol32	7.8	CSF1, CSF1R, CSK, RUNX2, EPO, TNFRSF11A
41	adp32 18	8.8	CSF1R, TCIRG1, DNAH8, PLEK, SRC, ITGB3
42	alanine32	7.8	KHDRBS3, ITGB3, CKB, BGLAP, CA2, SRC
43	vitamin d32	7.6	CKB, BGLAP, TNFSF11, LRP5, ITGB3, IGF1
44	dexamethasone32 42 34 9 9	11.5	CSF1R, IL7, TNFRSF11A, CSF1, IFNG, DSPP
45	testosterone32 9 18 9	10.5	CSF1, DNAH8, TNFSF11, ACPP, TNFRSF11B, CALCA
46	cyclosporin a32 42	8.4	IL7, NFATC1, ACP5, TNFRSF11B, SRC, BGLAP
47	calcitriol32 42 9 18 9	10.8	IGF1, TNFRSF11A, TNFRSF11B, TNFSF11, SRC, ACP5
48	tyrosine32	6.6	TYROBP, CSF1, ITGB3, MITF, IL7, IKBKG
49	calcium32 9 18 9	9.5	BGLAP, KHDRBS3, CKB, ATP6V1B1, ATP6V0A4, ITGB3
50	vegf32	6.1	RUNX2, CLEC11A, BGLAP, IL7, IGF1, IFNG

Cellular components related to osteopetrosis according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	vacuolar proton-transporting V-type ATPase, V0 domain	GO:000220	10.5	TCIRG1, ATP6V0A1, ATP6V0A2, ATP6V0A4
2	proton-transporting V-type ATPase, V0 domain	GO:033179	10.4	ATP6V0C, ATP6V0B, ATP6V0D2, ATP6V0E1, ATP6V0E2, ATP6V0D1
3	proton-transporting two-sector ATPase complex, catalytic domain	GO:033178	10.4	ATP6V1E2, ATP6V1E1
4	proton-transporting V-type ATPase, V1 domain	GO:033180	10.3	ATP6V1C1, ATP6V1F, ATP6V1A, ATP6V1B2, ATP6V1C2, ATP6V1B1
5	proton-transporting two-sector ATPase complex	GO:016469	10.3	ATP6V1C1, ATP6V1F, ATP6V1A, ATP6V1E1
6	phagocytic vesicle membrane	GO:030670	10.2	ATP6V0D1, TCIRG1, ATP6V0E2, ATP6V0A4, ATP6V0E1, ATP6V0D2
7	vacuolar proton-transporting V-type ATPase complex	GO:016471	10.2	ATP6V1B1, ATP6V0D1, ATP6V0A4, ATP6V1D, ATP6V1G3, ATP6V0D2
8	microvillus	GO:005902	10.2	CA2, ATP6V1A, ATP6V1B2, ATP6V1E1, ATP6V1B1
9	endosome membrane	GO:010008	10.2	TCIRG1, ATP6V0C, ATP6V0A1, ATP6V0B, ATP6V0A2, ATP6V0D2
10	apical plasma membrane	GO:016324	9.7	TCIRG1, ATP12A, ATP6V0D2, ATP6V1A, ATP6V1E1, ATP6V0A4
11	cytosol	GO:005829	7.8	ATP6V1F, ATP6V1C1, FERMT2, IKBKG, GOT1, CA2
12	extracellular space	GO:005615	7.0	TNFRSF11B, TNFSF11, CTSK, CSF1, EPO, TNF

Biological processes related to osteopetrosis according to GeneDecks:

(show all 26)

id	Name	GO ID	Score	Top Affiliating Genes
1	vacuolar acidification	GO:007035	10.6	ATP6V0E2, ATP6V0E1, ATP6V1H
2	positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling	GO:071848	10.5	TNFSF11, TNFRSF11A
3	TNFSF11-mediated signaling pathway	GO:071847	10.5	TNFSF11, TNFRSF11A
4	positive regulation of fever generation by positive regulation of prostaglandin secretion	GO:071812	10.4	TNFSF11, TNFRSF11A
5	monocyte chemotaxis	GO:002548	10.3	TNFSF11, TNFRSF11A, CALCA
6	bone resorption	GO:045453	10.3	ACP5, CTSK, SRC, TNFSF11, IL7
7	regulation of pH	GO:006885	10.3	ATP6V0A4, ATP6V1B1, CLCN3
8	ossification	GO:001503	10.1	RUNX2, CSF1, DSPP, TNFSF11, TNFRSF11A, ATP6V0A4
9	proton transport	GO:015992	10.0	TCIRG1, ATP6V0D1, ATP6V1B1, ATP6V1G1, ATP6V0A4, ATP6V1D
10	pH reduction	GO:045851	10.0	ATP4A, ATP6V1B1
11	regulation of bone resorption	GO:045124	9.9	BGLAP, ITGB3, SRC, CSF1R
12	osteoclast differentiation	GO:030316	9.9	CSF1R, CSF1, OSTM1, TNFSF11, TNFRSF11A, TNF
13	platelet aggregation	GO:070527	9.9	ITGB3, FERMT3, PLEK
14	response to estrogen stimulus	GO:043627	9.8	BGLAP, CA2, TNFRSF11B, EPO
15	phagosome maturation	GO:090382	9.7	ATP6V0D2, ATP6V1B1, ATP6V1G1, ATP6V0D1, ATP6V1C2, ATP6V0E2
16	ATP hydrolysis coupled proton transport	GO:015991	9.7	TCIRG1, ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V0A1, ATP6V0B
17	interaction with host	GO:051701	9.7	TCIRG1, ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V1G2, ATP6V0A1
18	transferrin transport	GO:033572	9.7	TCIRG1, ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V1G2, ATP6V0A1
19	cellular iron ion homeostasis	GO:006879	9.6	ATP6V0A1, ATP6V0A4, ATP6V0E2, ATP6V1C2, ATP6V0D1, ATP6V1B1
20	insulin receptor signaling pathway	GO:008286	9.6	TCIRG1, ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V1G2, ATP6V0A1
21	positive regulation of Ras protein signal transduction	GO:046579	9.5	IGF1, CSF1, EPO
22	positive regulation of osteoclast differentiation	GO:045672	9.3	CSF1, TNFSF11, TNF, CA2, IFNG
23	transmembrane transport	GO:055085	9.3	TCIRG1, ATP6V0C, ATP6V1C1, ATP6V1F, ATP6V1G2, ATP6V1D
24	positive regulation of vitamin D biosynthetic process	GO:060557	9.0	TNF, IFNG
25	humoral immune response	GO:006959	9.0	TFEB, TFE3, TNF, IFNG, IL7
26	positive regulation of cell proliferation	GO:008284	9.0	EPO, CSF1R, CSF1, TCIRG1, TNFRSF11A, IGF1

Molecular functions related to osteopetrosis according to GeneDecks:

(show all 11)

id	Name	GO ID	Score	Top Affiliating Genes
1	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	GO:016820	10.5	ATP6V1G1, ATP6V1G3, ATP6V1G2
2	hydrogen-exporting ATPase activity, phosphorylative mechanism	GO:008553	10.4	ATP6V1C1, ATP6V1E1, ATP6V1E2, ATP6V1C2
3	hydrogen ion transporting ATP synthase activity, rotational mechanism	GO:046933	10.4	ATP6V0C, ATP6V1F, ATP6V1A, ATP6V1B2, ATP6V1B1
4	ATPase activity, coupled to transmembrane movement of ions	GO:042625	10.4	ATP6V0E2, ATP6V0E1
5	ATPase binding	GO:051117	10.3	ATP6V0A1, ATP6V1G3, ATP6V0A4, ATP6V1G1
6	hydrogen ion transmembrane transporter activity	GO:015078	10.2	ATP6V1B1, TCIRG1, ATP6V0D1, ATP6V0E2, ATP6V0A4, ATP6V1B2
7	proton-transporting ATPase activity, rotational mechanism	GO:046961	10.1	ATP6V1E2, ATP6V0E1, ATP6V1E1, ATP6V1B2, ATP6V1A, ATP6V1H
8	voltage-gated chloride channel activity	GO:005247	10.0	CLCN7, CLCN4, CLCN3, CLCN1
9	antiporter activity	GO:015297	9.7	CLCN3, CLCN4, CLCN7
10	cytokine activity	GO:005125	8.7	CSF1, TNFSF11, TNFRSF11B, TNF, IFNG, IL7
11	protein binding	GO:005515	4.8	MITF, IL7, IKBKG, IGF1, CALCA, TRIP6