Rickets malady

MedlinePlus: Rickets causes soft, weak bones in children. it usually occurs when they do not get enough vitamin d, which helps growing bones absorb important nutrients. vitamin d comes from sunlight and food. your skin produces vitamin d in response to the sun's rays. some foods also contain vitamin d, including fortified dairy products and cereals, and some kinds of fish. your child might not get enough vitamin d if he or she has dark skin spends too little time outside has on sunscreen all the time when out of doors doesn't eat foods containing vitamin d because of lactose intolerance or a strict vegetarian diet is breastfed without receiving vitamin d supplements can't make or use vitamin d because of a medical disorder such as celiac disease in addition to dietary rickets, children can get an inherited form of the disease.²³

MalaCards: Rickets, also known as vitamin d-dependent rickets, is related to x-linked hypophosphatemia and hereditary hypophosphatemic rickets. An important gene associated with Rickets is PHEX (phosphate regulating endopeptidase homolog, X-linked), and among its related pathways are Vitamin D2 (ergocalciferol) metabolism and Vitamin D2 (ergocalciferol) metabolism. The drugs calcitriol and ergocalciferol and the compounds Ergocalciferol and 24,25-dihydroxyvitamin d3 have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and t cells, and related mouse phenotypes are hematopoietic system and other.

Disease Ontology: A bone remodeling disease that has material basis in a vitamin d deficiency in children which results in softening and deformity located in bone.⁶

NIH Rare Diseases: Rickets is a condition that causes children to have soft, weak bones. It usually occurs when children do not get enough vitamin D, which helps growing bones absorb important nutrients. Vitamin D comes from sunlight and food. Skin produces vitamin D in response to the sun's rays. Some foods also contain vitamin D, including fortified dairy products and cereals, and some kinds of fish.³⁰

Genetics Home Reference: Hereditary hypophosphatemic rickets is a disorder related to low levels of phosphate in the blood (hypophosphatemia). Phosphate is a mineral that is essential for the normal formation of bones and teeth.¹⁷

Wikipedia: Rickets is a softening of bones in children due to deficiency or impaired metabolism of vitamin...⁴⁴ more...

Aliases & Descriptions:

rickets 6 7 30 8 32 23 43 vitamin d-dependent rickets 6 43 vitamin-d deficiency rickets 30 vitamin d deficiency disease 30 vitamin d deficiency 32

nutritional rickets 30 hypovitaminosis d 30 rickets, active 6 active rickets 6 vitamin d 23

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

(show top 50)    (show all 423)

id	Related Disease	Score	Top Affiliating Genes
1	x-linked hypophosphatemia	34.6	BGLAP, FGF23, PHEX
2	hereditary hypophosphatemic rickets	33.4	SFRP4, FGF23, MEPE, MED4, DMP1, SKA1
3	vitamin d-dependent rickets type ii	33.2	VDR, CYP27B1
4	hypophosphatemic rickets with hypercalciuria	33.0	FGF23, SLC34A3, SLC34A1
5	hereditary hypophosphatemic rickets with hypercalciuria	32.6	FGF23, SLC34A3, SLC34A1
6	pseudovitamin d deficiency rickets	32.6	CYP4V2, CYP24A1, CYP27B1
7	hypophosphatemic rickets, autosomal dominant	31.8	SFRP4, FGF23, MEPE, PHEX
8	pulmonary tuberculosis	31.7	GC, VDR, ALB, CALCA, CYP27B1, CP
9	type 1 diabetes mellitus	31.6	VDR, BGLAP, ENPP1, IGF1, ALB, CYP27B1
10	periodontal disease	31.2	BGLAP, CD36, ALPP, DSPP, SLPI
11	gaucher's disease	30.6	VDR, BGLAP, CD36, IDUA, ACP5
12	alopecia	30.3	NCOA1, VDR, MED1, MED4, IGF1, CYP27B1
13	parathyroid adenoma	30.3	VDR, BGLAP, IGF1, ALPP, GNAS, CASR
14	hypophosphatemic rickets and hyperparathyroidism	30.2	KL, HPRHP
15	back pain	29.9	VDR, CD36, ALPP, CALCA
16	hypoparathyroidism	29.7	VDR, BGLAP, FGF23, IGF1, ALPP, GNAS
17	psoriasis	29.7	VDR, BGLAP, CD36, IGF1, ALB, CALCA
18	urolithiasis	29.7	VDR, ALB, CASR, ESR1, SLC34A1
19	type 2 diabetes mellitus	29.6	GC, ENPP1, IGF1, ALB, CYP3A4, NR1H2
20	craniosynostosis	29.4	NCOA1, MEPE, ENPP1, ALPL, GNAS, PHEX
21	hypercalcemia	29.4	KL, GC, VDR, BGLAP, CD36, FGF23
22	colon carcinoma	29.3	KL, VDR, IGFBP4, IGF1, IDUA, CASR
23	hypophosphatasia	29.2	ALPL, ALPP
24	basal cell carcinoma	29.2	VDR, CYP24A1, CYP27B1, CREBBP, KRT10
25	endometriosis	29.1	NCOA1, SFRP4, GC, VDR, BGLAP, CD36
26	osteomalacia	29.1	KL, SFRP4, GC, VDR, CLCN5, BGLAP
27	colon adenocarcinoma	29.1	VDR, ALPL, ALPP, ESR1, CYP3A4, CYP27B1
28	hypercalciuria	28.9	KL, VDR, CLDN16, CLCN5, BGLAP, ATP6V1B1
29	inflammatory bowel disease	28.8	GC, VDR, BGLAP, CD36, IGF1, ALB
30	epidermal nevus vitamin d resistant rickets	28.8	FGF23, CREBBP, PHEX, KRT10
31	scoliosis	28.7	VDR, BGLAP, CD36, IGF1, ESR1, CP
32	sarcoidosis	28.7	VDR, IGF1, ALB, ALPP, CASR, PTH
33	paget's disease of bone	28.6	VDR, BGLAP, CD36, ALPL, ALPP, ALPPL2
34	renal osteodystrophy	28.5	VDR, BGLAP, CD36, FGF23, IGFBP4, ALPL
35	colon cancer	28.4	GC, VDR, LGR5, CD36, IGFBP4, IGF1
36	osteoporosis, postmenopausal	28.4	GC, VDR, BGLAP, CD36, IGFBP4, IGF1
37	periostitis	28.4	KL, BGLAP, CD36, ALPP, PTH, GALNT3
38	addison's disease	28.3	VDR, BGLAP, KAL1, CYP27B1, NR1H2
39	ankylosing spondylitis	28.3	GC, VDR, BGLAP, CD36, ENPP1, IGF1
40	epididymitis	28.3	VDR, CLCN5, ESR1, CYP27B1, NR1H2, TTR
41	hypocalciuric hypercalcemia	28.1	CASR, CALCA, PTH, NR1I3
42	primary biliary cirrhosis	28.1	VDR, BGLAP, CD36, IGF1, ALB, ALPP
43	epithelial ovarian cancer	27.9	NCOA1, VDR, CD36, IGF1, ALPP, ESR1
44	rheumatoid arthritis	27.9	KL, GC, VDR, BGLAP, ATP6V1B1, CD36
45	skin disease	27.9	VDR, ALB, ALPL, ALPP, ALPPL2, CYP3A4
46	prostate carcinoma	27.9	VDR, BGLAP, CD36, IGFBP4, IGF1, ALPP
47	spondylosis	27.8	KL, NCOA1, VDR, ESR1, PTH
48	oncogenic osteomalacia	27.8	SFRP4, FGF23, MEPE, CALCA, PTH, DMP1
49	transsexualism	27.7	VDR, BGLAP, CALCA, ESR1
50	asthma	27.7	GC, VDR, BGLAP, CD36, ALB, ALPP

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 calcitriol, cod liver oil [va product], ergocalciferol

MalaCards organs/tissues related to rickets:

²²

FMA organs/tissues related to rickets:

¹¹

MGI Mouse Phenotypes related to rickets:

²⁵ (show all 21)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	9.3	SPINK5, SPTA1, PTH, TRPV5, CASR, ALPL
2	other phenotype	MP:0005395	9.3	PHEX, NR1H3, NR1H2, CASR, ALPL, ENPP1
3	endocrine/exocrine gland phenotype	MP:0005379	8.9	GALNT3, PTH, TRPV6, GNAS, IGFBP4, MED1
4	craniofacial phenotype	MP:0005382	8.4	PTH, DMP1, CREBBP, PHEX, KRT10, DSPP
5	reproductive system phenotype	MP:0005389	8.1	CYP24A1, SPTA1, NR1H2, NR1H3, NR1I2, NR1I3
6	immune system phenotype	MP:0005387	7.9	TRPV6, PTH, CYP27B1, SPTA1, SPINK5, CREBBP
7	limbs/digits/tail phenotype	MP:0005371	7.6	PTH, DMP1, CREBBP, PHEX, KRT10, ACP5
8	adipose tissue phenotype	MP:0005375	7.6	ALPL, GNAS, ESR1, CREBBP, PHEX, IDUA
9	renal/urinary system phenotype	MP:0005367	7.2	IDUA, GNAS, CASR, ESR1, CYP24A1, CYP27B1
10	digestive/alimentary phenotype	MP:0005381	7.1	CASR, ESR1, TRPV6, SPTA1, CREBBP, PHEX
11	integument phenotype	MP:0010771	7.1	CASR, CALCA, TRPV6, SPTA1, SPINK5, CREBBP
12	growth/size phenotype	MP:0005378	6.7	SPTA1, CYP27B1, CYP24A1, PTH, TRPV6, NR1I3
13	liver/biliary system phenotype	MP:0005370	6.7	CYP27A1, SPTA1, NR1H2, NR1H3, NR1H4, NR1I2
14	muscle phenotype	MP:0005369	6.5	CASR, ESR1, NR1H2, NR1H3, CREBBP, C12orf5
15	mortality/aging	MP:0010768	6.5	NR1H4, NR1H3, SPINK5, SPTA1, PTH, NR1I2
16	skeleton phenotype	MP:0005390	5.8	NCOA1, ESR1, TRPV5, TRPV6, PTH, CYP24A1
17	cardiovascular system phenotype	MP:0005385	5.7	PTH, ESR1, CALCA, GNAS, SPTA1, NR1H2
18	behavior/neurological phenotype	MP:0005386	5.6	ESR1, TRPV6, SPTA1, NR1H2, NR1H3, NR1I2
19	nervous system phenotype	MP:0003631	5.2	ALPL, GNAS, CALCA, ESR1, SPTA1, NR1H2
20	cellular phenotype	MP:0005384	5.1	NR1H4, NR1H3, NR1H2, SPTA1, CYP27B1, NR1I2
21	homeostasis/metabolism phenotype	MP:0005376	1.7	KL, MED1, GRIP1, FAH, ENPP1, IGFBP4

Articles related to rickets:

(show top 50)    (show all 208)

id	Title	Authors	Year	Affiliating Genes
1	Genetic diagnosis of X-linked dominant Hypophosphatem ic Rickets in a cohort study: tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type. (21902834)	Morey M.... Loidi L.	2011	PHEX
2	A novel G102E mutation of CYP27B1 in a large family w ith vitamin D-dependent rickets type 1. (20534770)	Alzahrani A.S.... Shi Y.	2010	CYP27B1
3	Circulating insulin-like growth factor binding protei n-4 (IGFBP-4) is not regulated by parathyroid hormone and vitamin D in vivo: ev idence from children with rickets. (21274331)	Bereket A.... Haklar G.	2010	IGFBP4
4	Bone and joint diseases in children. Rickets (20513940)	Tanaka H.	2010	FGF23
5	Compound heterozygous mutations in the vitamin D receptor in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia. (19049339)	Zhou Y.... Feldman D.	2009	VDR
6	Novel human pathological mutations. Gene symbol: PHEX. Disease: rickets, hypophosphataemic. (19309785)	Ellison J.... Tebben P.	2009	PHEX
7	Hereditary vitamin D resistant rickets: identificatio n of a novel splice site mutation in the vitamin D receptor gene and successful treatment with oral calcium therapy. (19523546)	Ma N.S.... Feldman D.	2009	VDR
8	Rickets (19122271)	Yasuda T.	2009	PHEX
9	Dentin noncollagenous matrix proteins in familial hypophosphatemic rickets. (18701809)	Gaucher C.... Chaussain-Miller C.	2009	PHEX, DSPP, MEPE
10	Predisposition to vitamin D deficiency osteomalacia a nd rickets in females is linked to their 25(OH)D and calcium intake rather than vitamin D receptor gene polymorphism. (19094076)	Ray D.... Sreenivas V.	2009	VDR, PTH
11	PHEX analysis in 118 pedigrees reveals new genetic clues in hypophosphatemic rickets. (19219621)	Gaucher C.... Jehan F.	2009	PHEX
12	What's new in hypophosphataemic rickets? (18214537)	Pettifor J.M.	2008	FGF23, DMP1, PHEX
13	Vitamin D receptor gene polymorphisms in Turkish children with vitamin D deficient rickets. (18365588)	Bora G.... Coskun T.	2008	VDR
14	A novel missense mutation in SLC34A3 that causes here ditary hypophosphatemic rickets with hypercalciuria in humans identifies threon ine 137 as an important determinant of sodium-phosphate cotransport in NaPi-IIc . (18480181)	Jaureguiberry G.... Bergwitz C.	2008	SLC34A3
15	A translocation causing increased alpha-klotho level results in hypophosphatemic rickets and hyperparathyroidism. (18308935)	Brownstein C.A.... Lifton R.P.	2008	KL
16	Association of the vitamin D receptor gene start codon polymorphism with delayed rickets (17349151)	Lu J.J.... Li L.	2007	VDR
17	Intronic deletions in the SLC34A3 gene cause hereditary hypophosphatemic rickets with hypercalciuria. (16849419)	Ichikawa S.... Econs M.J.	2006	SLC34A3
18	From gene to disease; hypophosphataemic rickets and the PHEX gene (16841587)	Jansen M.... Rump P.	2006	PHEX
19	From gene to disease; hypophosphataemic rickets and the PHEX gene (17061325)	Monnens L.... Levtchenko E.	2006	PHEX
20	Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets. (16636593)	Lo F.S.... Van Y.H.	2006	PHEX
21	Rickets-like radiological and biochemical features of neonatal mucolipidosis II (I-cell disease): report of two cases. (16363350)	TA1rker G.... Cokun T.	2005	CASR
22	Hypophosphatemic rickets associated with epidermal nevus syndrome and giant hairy nevus. (15679074)	Chou Y.Y.... Lin S.J.	2005	PHEX
23	Netherton syndrome: a type of infantile erythroderma with failure to thrive, immune deficiency, rickets. Report of 3 cases (15935629)	Andre E.... Lachaux A.	2005	SPINK5
24	Fibroblast growth factor 23, a new phosphaturic factor in hypophosphatemic rickets/osteomalacia (16279684)	Nishizawa Y.... Imanishi Y.	2005	FGF23
25	A unique insertion/substitution in helix H1 of the vitamin D receptor ligand binding domain in a patient with hereditary 1,25-dihydroxyvitamin D-resistant rickets. (15190891)	Malloy P.J.... Feldman D.	2004	VDR
26	Serum MEPE-ASARM-peptides are elevated in X-linked rickets (HYP): implications for phosphaturia and rickets. (15590969)	Bresler D.... Rowe P.S.	2004	MEPE
27	FGF-23 transgenic mice demonstrate hypophosphatemic rickets with reduced expression of sodium phosphate cotransporter type IIa. (14733920)	Shimada T.... Yamashita T.	2004	FGF23
28	Hereditary 1,25-dihydroxyvitamin D resistant rickets due to a mutation causing multiple defects in vitamin D receptor function. (15308610)	Malloy P.J.... Feldman D.	2004	VDR
29	2 alpha-(3-hydroxypropyl)- and 2 alpha-(3-hydroxypropoxy)-1 alpha,25-dihydroxyvitamin D3 accessible to vitamin D receptor mutant related to hereditary vitamin D-resistant rickets. (12612432)	Kittaka A.... Takayama H.	2003	VDR
30	Fibroblast growth factor (FGF)-23 and hypophosphatemic rickets/osteomalacia. (11873859)	Fukumoto S.... Yamashita T.	2001	FGF23
31	Mutational analysis and genotype-phenotype correlation of the PHEX gene in X-linked hypophosphatemic rickets. (11502829)	Holm I.A.... Carpenter T.O.	2001	PHEX
32	Vitamin D receptor polymorphisms and nutritional rickets in Nigerian children. (11092401)	Fischer P.R.... Feldman D.	2000	VDR
33	Novel mutations in the 1alpha-hydroxylase (P450c1) gene in three families with pseudovitamin D-deficiency rickets resulting in loss of functional enzyme activity in blood-derived macrophages. (10320521)	Smith S.J.... Mawer E.B.	1999	CYP27B1
34	The importance of 25-hydroxyvitamin D3 1 alpha-hydroxylase gene in vitamin D-dependent rickets. (9690035)	Kato S.... Takeyama K.	1998	CYP27B1
35	A novel nonsense mutation in the first zinc finger of the vitamin D receptor causing hereditary 1,25-dihydroxyvitamin D3-resistant rickets. (9360557)	Mechica J.B.... Latronico A.C.	1997	VDR
36	The PEX gene: its role in X-linked rickets, osteomalacia, and bone mineral metabolism. (9386970)	Rowe P.S.	1997	PHEX
37	Recovery from metabolic bone disease in a girl with vitamin D deficiency rickets associated with primary hyperparathyroidism. (9364360)	Luboshitzky R.... Hardoff R.	1997	PTH
38	Vitamin D-dependent rickets type I and type II. (9316302)	Takeda E.... Miyamoto K.	1997	CYP27B1
39	Cloning of human 25-hydroxyvitamin D-1 alpha-hydroxylase and mutations causing vitamin D-dependent rickets type 1. (9415400)	Fu G.K.... Portale A.A.	1997	CYP27B1
40	The 25-hydroxyvitamin D 1-alpha-hydroxylase gene maps to the pseudovitamin D-deficiency rickets (PDDR) disease locus. (9333115)	St-Arnaud R.... Glorieux F.H.	1997	CYP27B1
41	Pathohistology of undecalcified primary teeth in vita min D-resistant rickets: review and report of two cases. (8863313)	Hillmann G.... Geurtsen W.	1996	DSPP
42	Vitamin D-dependent rickets type II: regulation of human osteocalcin gene expression in cells with defective vitamin D receptors by 1,25-dihydroxyvitamin D-3, retinoic acid, and triiodothyronine. (7986828)	Takeda E.... Kuroda Y.	1994	VDR, BGLAP
43	Vitamin D-dependency rickets type II: truncated vitamin D receptor in three kindreds. (8388340)	Wiese R.J.... DeLuca H.F.	1993	VDR
44	Human 25-hydroxyvitamin D 24-hydroxylase cytochrome P450 subunit maps to a different chromosomal location than that of pseudovitamin D- deficient rickets. (8266831)	Labuda M.... Glorieux F.H.	1993	CYP24A1
45	Calcium therapy for calcitriol-resistant rickets. (1331389)	Hochberg Z.... Even L.	1992	VDR
46	Normal calcitonin stimulation of serum calcitriol in patients with X-linked hypophosphatemic rickets. (1639943)	Econs M.J.... Drezner M.K.	1992	CALCA, CYP27B1
47	Sequential concentrations of copper and ceruloplasmin in serum from preterm infants with rickets and fractures. (2015671)	Koo W.W.... Hambidge K.M.	1991	CP
48	Mineral content of different areas of human dentin in hypophosphataemic vitamin D-resistant rickets. (1657902)	Hietala E.L.... Larmas M.A.	1991	DSPP
49	Rickets in Nigerian children: a consequence of calcium malnutrition. (1988779)	Okonofua F.... Dandona P.	1991	ALPP
50	Genetic aspects of vitamin D-deficient rickets: genetic markers of blood (1802786)	Spitsyn V.A.... Guseva E.V.	1991	GC

Genes related to rickets according to GeneCards:

(show top 50)    (show all 73)

id	Symbol	Description	Score	GeneCards Section Context
1	PHEX	phosphate regulating endopeptidase homolog, X-linked	11.1	Orthologs, Aliases & Descriptions, Publications, Summaries
2	VDR	vitamin D (1,25- dihydroxyvitamin D3) receptor	11.1	Summaries, Publications, Orthologs
3	FGF23	fibroblast growth factor 23	11.1	Summaries, Publications
4	CYP27B1	cytochrome P450, family 27, subfamily B, polypeptide 1	11.1	Summaries, Publications
5	SLC34A3	solute carrier family 34 (sodium phosphate), member 3	11.1	Publications, Summaries
6	DMP1	dentin matrix acidic phosphoprotein 1	11.1	Publications, Summaries
7	HPRHP	Hypophosphatemic rickets and hyperparathyroidism	11.1	Aliases & Descriptions
8	NR1I3	nuclear receptor subfamily 1, group I, member 3	11.0	Summaries, Orthologs
9	MEPE	matrix extracellular phosphoglycoprotein	11.0	Publications
10	SFRP4	secreted frizzled-related protein 4	11.0
11	SLC34A1	solute carrier family 34 (sodium phosphate), member 1	11.0	Publications
12	CLCN5	chloride channel, voltage-sensitive 5	11.0	Publications
13	CYP24A1	cytochrome P450, family 24, subfamily A, polypeptide 1	11.0	Publications
14	ENPP1	ectonucleotide pyrophosphatase/phosphodiesterase 1	11.0	Publications
15	PTH	parathyroid hormone	11.0	Publications
16	CYP27A1	cytochrome P450, family 27, subfamily A, polypeptide 1	11.0	Publications
17	DSPP	dentin sialophosphoprotein	11.0	Publications
18	BGLAP	bone gamma-carboxyglutamate (gla) protein	11.0	Publications
19	CYP2R1	cytochrome P450, family 2, subfamily R, polypeptide 1	11.0
20	GALNT8	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	11.0	Publications
21	FDX1	ferredoxin 1	11.0	Publications
22	CYP4V2	cytochrome P450, family 4, subfamily V, polypeptide 2	11.0	Orthologs
23	FAH	fumarylacetoacetate hydrolase (fumarylacetoacetase)	11.0
24	KL	klotho	11.0	Publications
25	MED4	mediator complex subunit 4	11.0	Publications
26	ACP5	acid phosphatase 5, tartrate resistant	11.0
27	ALPL	alkaline phosphatase, liver/bone/kidney	11.0
28	ALPP	alkaline phosphatase, placental	11.0	Publications
29	GC	group-specific component (vitamin D binding protein)	11.0	Publications
30	SLPI	secretory leukocyte peptidase inhibitor	11.0
31	NR1H2	nuclear receptor subfamily 1, group H, member 2	11.0	Orthologs
32	PAH	phenylalanine hydroxylase	11.0
33	CYP3A4	cytochrome P450, family 3, subfamily A, polypeptide 4	11.0
34	CD36	CD36 molecule (thrombospondin receptor)	11.0	Publications
35	LPAR5	lysophosphatidic acid receptor 5	11.0	Publications
36	DYRK4	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4	11.0	Publications
37	C12orf5	chromosome 12 open reading frame 5	11.0	Publications
38	C12orf4	chromosome 12 open reading frame 4	11.0	Publications
39	S100G	S100 calcium binding protein G	11.0
40	LGR4	leucine-rich repeat containing G protein-coupled receptor 4	11.0	Orthologs
41	EMP1	epithelial membrane protein 1	11.0
42	CLDN16	claudin 16	11.0	Publications
43	HEBP1	heme binding protein 1	11.0
44	SKA1	spindle and kinetochore associated complex subunit 1	11.0
45	KRT10	keratin 10	11.0	Publications
46	TRPV5	transient receptor potential cation channel, subfamily V, member 5	11.0
47	IDUA	iduronidase, alpha-L-	11.0	Publications
48	OCRL	oculocerebrorenal syndrome of Lowe	11.0	Publications
49	ATP6V1B1	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	11.0
50	IGFBP4	insulin-like growth factor binding protein 4	11.0	Publications

Pathways related to rickets according to GeneDecks:

(show all 16)

id	Pathway	Score	Top Affiliating Genes
1	Vitamin D2 (ergocalciferol) metabolism10	10.5	CYP2R1, CYP27A1, CYP3A4, CYP24A1
2	Vitamin D2 (ergocalciferol) metabolism41	10.5	CYP2R1, CYP27B1, CYP27A1, CYP3A4, CYP24A1
3	Gene Expression38	10.2	MED4, NR1I2
4	Folate biosynthesis20	10.2	ALPPL2, ALPP, ALPL
5	Development_Hedgehog and PTH signaling pathways in bone and cartilage development41	10.2	VDR, BGLAP, GNAS, PTH
6	Development Hedgehog and PTH signaling pathways in bone and cartilage development10	10.1	PTH, GNAS, BGLAP, VDR
7	NAD metabolism41	10.1	ENPP1, ALPL, ALPP, ALPPL2
8	Etoposide Pathway, Pharmacokinetics/Pharmacodynamics34	10.1	VDR, CYP3A4, NR1I2
9	Carbamazepine Pathway, Pharmacokinetics34	10.0	NR1I3, NR1I2, CYP3A4
10	NAD metabolism10	9.8	ENPP1, ALPL, ALPP, ALPPL2
11	Transcription_Role of VDR in regulation of genes involved in osteoporosis41	9.5	VDR, CYP27B1, CYP3A4, CYP24A1, PTH, CALCA
12	Transcription Role of VDR in regulation of genes involved in osteoporosis10	9.5	CYP27B1, CYP3A4, CYP24A1, PTH, CALCA, IGF1
13	Endocrine and other factor-regulated calcium reabsorption20	9.3	TRPV5, ESR1, GNAS, VDR, KL
14	Metabolic pathways20	9.2	CYP3A4, CYP27A1, CYP27B1, CYP2R1, OCRL, GALNT3
15	Development Ligand-independent activation of ESR1 and ESR210	8.1	NCOA1, IGF1, GNAS, ESR1, CREBBP
16	Development_Ligand-independent activation of ESR1 and ESR241	8.1	CREBBP, ESR1, GNAS, IGF1, NCOA1

Compounds related to rickets according to GeneDecks:

(show top 50)    (show all 175)

id	Compound	Score	Top Affiliating Genes
1	Ergocalciferol9 18 9	12.5	CYP27B1, CYP27A1, CYP3A4, CYP24A1, VDR, CYP2R1
2	24,25-dihydroxyvitamin d332	10.3	VDR, CALCA, BGLAP, CYP24A1, ALPP, CYP27B1
3	calcipotriol32 42 9 9	13.3	GC, BGLAP, CYP24A1, CYP27B1, VDR, KRT10
4	paricalcitol32 9 9	12.3	PTH, CYP27B1, VDR, CYP3A4, CYP24A1
5	alfacalcidol32 9 9	12.2	SLPI, CYP27B1, CYP27A1, BGLAP, GC, VDR
6	calcium carbonate32	10.2	BGLAP, CD36, CALCA, PTH, DSPP, ALPP
7	aspartate32	10.1	FAH, ACP5, DSPP, TRPV5, ALPL, GC
8	tartrate32	10.1	DSPP, SLPI, ACP5, CALCA, CD36, BGLAP
9	22-oxacalcitriol32	10.1	CASR, ALPP, CD36, BGLAP, VDR, GC
10	alizarin32	10.1	BGLAP, ALPL, ALPP, SLPI, CD36
11	citco32 42	11.0	NCOA1, NR1I2, NR1I3, NR1H2
12	etidronate32	10.0	CD36, BGLAP, SLPI, ALPP, CALCA
13	vitamin k232	9.9	BGLAP, CD36, ALPP, CALCA, NR1I2, SLPI
14	hydroxyapatite32	9.8	ALPP, ENPP1, FGF23, ALPL, CD36, SLPI
15	phosphorus32	9.8	SLC34A1, SLPI, ACP5, VDR, FGF23, ALPP
16	pamidronate32 9 9	11.7	PTH, CALCA, CASR, BGLAP, CD36, ALPP
17	chenodeoxycholic acid32 9 18 9	12.7	NCOA1, VDR, CYP3A4, CYP27A1, NR1H2, NR1I3
18	pge232	9.7	CYP24A1, NR1H2, CYP27B1, CASR, GNAS, SLPI
19	androstane32	9.6	CYP3A4, VDR, NR1H2, NR1H4, NR1I2, NR1I3
20	pyridinoline32	9.5	SLPI, CALCA, ACP5, ALPP, BGLAP, CD36
21	deoxypyridinoline32	9.5	IGF1, CD36, PTH, CALCA, ACP5, SLPI
22	risedronate32 42 9 9	12.3	CALCA, ESR1, ALPP, CD36, BGLAP, SLPI
23	procollagen32	9.1	SLPI, ACP5, ALPP, IGF1, PTH, BGLAP
24	eb 108932	9.1	CYP27B1, CYP27A1, ESR1, IGF1, VDR, BGLAP
25	hydrocortisone32 9 9	10.8	NR1I2, NR1H2, BGLAP, CYP3A4, CALCA, ALPP
26	cyclosporin a32 42	9.7	NR1H2, SLPI, IDUA, TTR, ACP5, BGLAP
27	alendronate32 9 9	10.7	VDR, BGLAP, CD36, IGF1, ALPP, CALCA
28	raloxifene32 9 9	10.4	VDR, BGLAP, CD36, IGF1, CALCA, ESR1
29	estradiol32 9 18 9	11.3	NR1I2, CREBBP, SLPI, CYP3A4, NCOA1, GC
30	magnesium32 9 18 9	11.2	ALPL, ALPP, ALPPL2, CASR, TRPV5, DYRK4
31	cysteine32	8.0	CASR, CREBBP, CYP27B1, ALPP, ALB, IGFBP4
32	creatinine32	8.0	ACP5, CLCN5, GC, VDR, FGF23, IGF1
33	testosterone32 9 18 9	11.0	SLPI, TTR, CREBBP, NR1I3, NR1I2, NR1H4
34	progesterone32 42 9 18 9	11.9	NCOA1, SFRP4, ESR1, S100G, KRT10, CREBBP
35	thyroxine32 18	8.8	VDR, CP, NR1I2, PTH, CALCA, ALB
36	retinoid32	7.8	ALPP, CREBBP, VDR, MED1, ESR1, CYP27A1
37	tamoxifen32 34 9 9	10.7	NR1H2, NR1I2, PTH, ESR1, ALPP, IGF1
38	25-hydroxyvitamin d32	7.7	TTR, SLPI, ACP5, IGF1, ALB, ALPP
39	dexamethasone32 42 34 9 9	11.6	CYP24A1, CYP3A4, CYP27A1, NR1H2, NR1H4, NR1I2
40	1,25 dihydroxy vitamin d332	7.1	CASR, CALCA, TRPV5, TRPV6, PTH, CYP24A1
41	steroid32	7.0	CYP27A1, CYP27B1, CYP24A1, TRPV6, GNAS, NR1H3
42	alanine32	6.9	MED1, GNAS, PAH, VDR, EMP1, FAH
43	arginine32	6.8	CREBBP, CP, DSPP, PTH, TTR, KRT10
44	cholesterol32 9 18 9	9.8	ALPP, TTR, ALB, CYP27B1, CREBBP, LGR6
45	calcitriol32 42 9 18 9	10.7	BGLAP, S100G, CD36, FGF23, MEPE, IGF1
46	retinoic acid32 42 18	7.9	NR1I3, CREBBP, KRT10, TTR, SLPI, CP
47	serine32	5.7	KRT10, IGF1, IGFBP4, ENPP1, FAH, FDX1
48	calcium32 9 18 9	8.6	PHEX, KRT10, ACP5, DSPP, SLPI, SLC34A3
49	estrogen32	5.1	CYP27B1, CYP24A1, PTH, ESR1, CALCA, TTR
50	vitamin d32	3.9	NCOA1, GC, VDR, BGLAP, S100G, CD36

Cellular components related to rickets according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular space	GO:005615	7.1	KL, CP, TTR, PTH, CALCA, ALPL
2	extracellular region	GO:005576	7.0	CALCA, PTH, SPINK5, HEBP1, TTR, SLPI

Biological processes related to rickets according to GeneDecks:

(show all 24)

id	Name	GO ID	Score	Top Affiliating Genes
1	positive regulation of vitamin D 24-hydroxylase activity	GO:010980	10.7	CYP27B1, FGF23, VDR
2	vitamin D catabolic process	GO:042369	10.7	CYP27B1, CYP24A1, FGF23
3	phosphate ion homeostasis	GO:055062	10.6	SLC34A1, FGF23, SFRP4
4	cellular phosphate ion homeostasis	GO:030643	10.6	SLC34A3, ENPP1, FGF23
5	biomineral tissue development	GO:031214	10.6	DSPP, PHEX, DMP1, ENPP1, MEPE
6	response to vitamin D	GO:033280	10.5	BGLAP, ALPL, CYP24A1, CYP27B1
7	vitamin D metabolic process	GO:042359	10.5	CYP2R1, CYP27B1, CYP3A4, CYP24A1, GC
8	vitamin metabolic process	GO:006766	10.5	ENPP1, CYP24A1, CYP27B1, CYP2R1, ACP5
9	positive regulation of keratinocyte differentiation	GO:045618	10.4	CYP27B1, MED1, VDR
10	regulation of bone mineralization	GO:030500	10.4	CYP27B1, ENPP1, BGLAP
11	vitamin D receptor signaling pathway	GO:070561	10.4	CYP24A1, VDR
12	steroid metabolic process	GO:008202	10.2	NR1I2, CYP2R1, CYP27B1, CYP3A4, CYP24A1, GC
13	mammary gland branching involved in pregnancy	GO:060745	10.2	MED1, VDR
14	xenobiotic metabolic process	GO:006805	10.1	NR1I2, CYP2R1, CYP27B1, CYP27A1, CYP3A4, CYP24A1
15	negative regulation of pinocytosis	GO:048550	9.9	NR1H3, NR1H2
16	androgen receptor signaling pathway	GO:030521	9.9	NR1I3, GRIP1, MED4, MED1, NCOA1
17	skeletal system development	GO:001501	9.7	VDR, DSPP, PHEX, PTH, ALPL, IGF1
18	response to estradiol stimulus	GO:032355	9.4	ESR1, VDR, GC, SFRP4, NCOA1
19	cellular lipid metabolic process	GO:044255	9.3	CREBBP, NR1H3, NR1H2, MED1, CD36, NCOA1
20	transcription initiation from RNA polymerase II promoter	GO:006367	8.4	CREBBP, NR1I3, NR1I2, NR1H4, NR1H3, NR1H2
21	positive regulation of transcription, DNA-dependent	GO:045893	8.1	CREBBP, NR1I2, NR1H3, IGF1, GRIP1, MED4
22	gene expression	GO:010467	8.0	NR1I3, NR1I2, NR1H4, NR1H3, NR1H2, ESR1
23	small molecule metabolic process	GO:044281	7.9	CYP24A1, CYP3A4, CYP27A1, CYP27B1, CYP2R1, CREBBP
24	positive regulation of transcription from RNA polymerase II promoter	GO:045944	7.6	CREBBP, NR1H4, NR1H3, NR1H2, PTH, ESR1

Molecular functions related to rickets according to GeneDecks:

(show all 12)

id	Name	GO ID	Score	Top Affiliating Genes
1	vitamin D binding	GO:005499	10.4	KL, GC, VDR, S100G
2	vitamin D3 25-hydroxylase activity	GO:030343	10.4	CYP3A4, CYP27A1, CYP2R1
3	iron ion binding	GO:005506	10.2	CYP2R1, CYP27B1, CYP27A1, CYP3A4, CYP24A1, CYP4V2
4	heme binding	GO:020037	10.1	HEBP1, CYP2R1, CYP27B1, CYP27A1, CYP3A4, CYP24A1
5	retinoid X receptor binding	GO:046965	10.1	VDR, NR1H2, NR1H3, NR1H4
6	protein-hormone receptor activity	GO:016500	10.0	LGR6, LGR5, LGR4
7	electron carrier activity	GO:009055	10.0	CYP2R1, CYP27B1, CYP27A1, CYP3A4, CYP24A1, CYP4V2
8	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity	GO:004879	9.9	NR1I3, NR1I2, NR1H4, NR1H3, NR1H2
9	alkaline phosphatase activity	GO:004035	9.8	ALPPL2, ALPP, ALPL
10	hormone activity	GO:005179	9.1	KL, IGF1, CALCA, PTH, TTR
11	steroid hormone receptor activity	GO:003707	9.1	NR1I2, NR1H4, NR1H3, NR1H2, ESR1, VDR
12	transcription coactivator activity	GO:003713	8.4	CREBBP, NR1I3, NR1I2, NR1H4, NR1H3, GRIP1