21-hydroxylase Deficiency malady

MedlinePlus: Your adrenal, or suprarenal, glands are located on the top of each kidney. these glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions. adrenal disorders can cause your adrenal glands to make too much or not enough hormones. with cushing's syndrome, there's too much cortisol, while with addison's disease, there is too little. some people are born unable to make enough cortisol. tumors can also cause disorders in your adrenal glands. bleeding and infection can cause an adrenal gland problem that can be fatal without quick treatment. treatment depends on which problem you have. surgery or medicines can treat many adrenal gland disorders.²³

MalaCards: 21-hydroxylase Deficiency, also known as congenital adrenal hyperplasia, is related to 11-beta-hydroxylase deficiency and 21-hydroxylase-deficient congenital adrenal hyperplasia. An important gene associated with 21-hydroxylase Deficiency is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Activation of C3 and C5 and ACE Inhibitor Pathway, Pharmacodynamics. The drugs hydrocortisone probutate and hydrocortisone buteprate and the compounds glucose and fludrocortisone have been mentioned in the context of this disorder. Affiliated tissues include brain, liver and kidney, and related mouse phenotypes are hematopoietic system and endocrine/exocrine gland.

Genetics Home Reference: 21-hydroxylase deficiency is an inherited disorder that affects the adrenal glands. The adrenal glands are located on top of the kidneys and produce a variety of hormones that regulate many essential functions in the body. In people with 21-hydroxylase deficiency, the adrenal glands produce excess androgens, which are male sex hormones.¹⁷

NIH Rare Diseases: 21-hydroxylase-deficiency is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2). Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems.³⁰

Wikipedia: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts...⁴⁴ more...

21-hydroxylase deficiency 44 30 17 43 congenital adrenal hyperplasia 44 30 16 8 43 adrenal gland disorders 44 17 23 adrenogenital syndrome 44 32 43 hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 44 17 cyp21 deficiency 30 17 cah 30 16 congenital adrenal hyperplasia due to 21-hydroxylase deficiency 30

adrenal hyperplasia congenital 32 21 hydroxylase deficiency 30 chronic active hepatitis 43 adrenal gland diseases 43 adrenal hyperplasia 43 hyperandrogenism 43 malnutrition 43 cah1 17

Disease types for 21-hydroxylase deficiency family:

11-beta-hydroxylase deficiency	17-alpha-hydroxylase deficiency
18 hydroxylase deficiency

Diseases related to 21-hydroxylase deficiency by text searches and GeneDecks gene sharing:

(show top 50)    (show all 778)

id	Related Disease	Score	Top Affiliating Genes
1	11-beta-hydroxylase deficiency	35.0	REN, GH1, CYP11B2, CYP11B1, CYP21A2, SHBG
2	21-hydroxylase-deficient congenital adrenal hyperplasia	34.3	HLA-B, CYP21A1P, CYP21A2
3	17-alpha-hydroxylase deficiency	33.4	REN, CYP11B2
4	cushing's syndrome	33.2	GH1, NR3C1, CRH, POMC
5	protein-energy malnutrition	32.2	LEP, IGFBP3, SHBG, LSL, GGT1
6	11-beta-hydroxylase-deficient congenital adrenal hyperplasia	32.2	CYP11B2, CYP11B1
7	turner syndrome	30.5	IGFBP3, GH1, CYP21A2, SHBG
8	hypertension	30.4	REN, CYP11B2, AGTR1
9	primary biliary cirrhosis	30.0	ALPP, HLA-B, HLA-DRB1, CYP3A4, GGT1
10	late-onset congenital adrenal hyperplasia	30.0	CYP21A2, POMC
11	antley-bixler syndrome	29.9	CYP3A4, CYP2C19, CYP21A2, POR, POMC
12	3-beta-hydroxysteroid dehydrogenase deficiency	29.8	HSD3B2, CYP21A2
13	hepatitis a	29.5	LEP, ALPP, HLA-B, HLA-DRB1, CYP3A4, LSL
14	familial glucocorticoid deficiency	29.5	MC2R, POMC
15	acanthosis nigricans	29.4	LEP, INS, GH1, CYP21A2, SHBG, PRL
16	adrenocortical hyperplasia	29.4	MC2R, CYP11B2, CYP11B1, CYP21A2, CRH, POMC
17	alcoholism	29.0	GHRH, CRH, POMC, GGT1
18	seminoma	28.9	CGB5, ALPP, GNRH1, CYP21A2, AFP
19	orthostatic hypotension	28.6	REN, AGTR1, POMC
20	virilization	28.3	LEP, CGB5, AR, INS, MC2R, GNRH1
21	glucocorticoid deficiency	28.3	REN, MC2R, POMC
22	hypospadias	28.1	AR, HSD3B2, CYP21A2, SHBG
23	gonadal dysgenesis	28.1	CGB5, GNRH1, CYP21A2, SHBG
24	systemic lupus erythematosus	28.1	ALPP, HLA-DRB1, CYP21A1P, C4A, C4B, PRL
25	hypothyroidism	28.0	LEP, IGFBP3, SHBG, LSL, ADIPOQ
26	male infertility	27.9	AR, GNRH1, CYP21A2, SHBG
27	androgenetic alopecia	27.8	AR, CYP21A2, SHBG
28	hypothalamic hamartomas	27.7	INS, GNRH1, CYP21A2, PRL
29	autoimmune hepatitis	27.7	ALPP, HLA-B, HLA-DRB1, CYP21A2, NR3C1, C4A
30	pseudohermaphroditism	27.5	CGB5, AR, ALPP, HSD3B2, CYP21A2, NR3C1
31	germinoma	27.4	CGB5, ALPP, CYP21A2, PRL, AFP
32	osteogenesis imperfecta	27.3	IGFBP3, ALPP, GH1, GGT1
33	anovulation	27.3	LEP, INS, IGFBP3, GNRH1, CYP21A2, CRH
34	klinefelter's syndrome	27.2	LEP, AR, INS, GNRH1, CYP21A2, SHBG
35	rickets	27.1	LEP, INS, ALPP, HLA-DRB1
36	marasmus	27.1	IGFBP3, GH1, SHBG, LSL
37	adrenocortical tumor	27.1	MC2R, IGFBP3, HLA-DRB1, CYP11B2, CYP11B1, CYP21A2
38	hyperinsulinism	27.0	LEP, INS, IGFBP3, GNRH1, GH1, SHBG
39	myasthenia gravis	27.0	AR, INS, HLA-B, HLA-DRB1, NR3C1, PRL
40	adrenal hyperplasia	26.9	REN, LEP, CGB5, CFB, AR, INS
41	c4 deficiency	26.9	C4A, C4B
42	immunoglobulin alpha deficiency	26.8	NDUFA6, C4A, C4B
43	autoimmune thyroiditis	26.7	AR, INS, IGFBP3, HLA-B, HLA-DRB1, CYP21A2
44	hyperaldosteronism	26.6	REN, INS, CYP11B2, CYP11B1, CYP21A2, LSL
45	leydig cell tumor	26.6	CGB5, ALPP, GNRH1, CYP21A2, PRL, POMC
46	insulinoma	26.5	CGB5, CFB, INS, GH1, GHRH, LSL
47	viral hepatitis	26.3	LEP, INS, ALPP, HLA-B, HLA-DRB1, CYP3A4
48	laron syndrome	26.3	INS, IGFBP3, GH1, LSL, ADIPOQ
49	adrenal adenoma	26.3	REN, MC2R, HLA-B, CYP11B1, CYP21A2, CRH
50	obstructive jaundice	26.3	ALPP, GGT1

Approved drugs:

Drug clinical trials:

Inferred drug relations via UMLS/NDF-RT:

^43 28 hydrocortisone, hydrocortisone acetate, hydrocortisone acetate pwdr [va product], hydrocortisone acetonide, hydrocortisone acetonide pwdr [va product], hydrocortisone buteprate, hydrocortisone butyrate, hydrocortisone cypionate, hydrocortisone probutate, hydrocortisone pwdr [va product], hydrocortisone sodium phosphate, hydrocortisone sodium succinate, hydrocortisone valerate, hydrocortisone,nonsterile pwdr [va product]

MalaCards organs/tissues related to 21-hydroxylase deficiency:

²²

MGI Mouse Phenotypes related to 21-hydroxylase deficiency:

²⁵ (show all 13)

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	hematopoietic system phenotype	MP:0005397	10.3	C4B
2	endocrine/exocrine gland phenotype	MP:0005379	8.7	GGT1, AFP, CYP11B1, CYP11B2, GHRH, GNRH1
3	integument phenotype	MP:0010771	8.6	POMC, PRL, NR3C1, TNXB, GNRH1, CRH
4	liver/biliary system phenotype	MP:0005370	8.3	AR, PRL, POR, CYP11B1, INS, GHRH
5	tumorigenesis	MP:0002006	8.2	PRL, LEP, AR, TNXB, AFP, ADIPOQ
6	renal/urinary system phenotype	MP:0005367	8.0	AGTR1, REN, INS, C4B, CYP11B1, CYP11B2
7	immune system phenotype	MP:0005387	7.5	GGT1, ADIPOQ, POMC, PRL, REN, CFB
8	cardiovascular system phenotype	MP:0005385	7.5	LEP, AR, INS, MC2R, CYP11B2, CYP11B1
9	adipose tissue phenotype	MP:0005375	7.4	LEP, AR, INS, MC2R, IGFBP3, GH1
10	reproductive system phenotype	MP:0005389	7.1	LEP, GHRH, GH1, ALPP, PRL, REN
11	behavior/neurological phenotype	MP:0005386	6.8	CYP11B2, PRL, NR3C1, IGFBP3, MC2R, INS
12	growth/size phenotype	MP:0005378	5.9	AR, INS, POR, ALPP, GNRH1, GH1
13	homeostasis/metabolism phenotype	MP:0005376	4.4	CYP11B2, GHRH, GH1, IGFBP3, INS, MC2R

Articles related to 21-hydroxylase deficiency:

(show top 50)    (show all 331)

id	Title	Authors	Year	Affiliating Genes
1	Molecular genetics of 21-hydroxylase deficiency. (21164261)	Wedell A.	2011	CYP21A2
2	Comprehensive genetic analysis of 182 unrelated famil ies with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (20926536)	Finkielstain G.P.... Merke D.P.	2011	CYP21A2
3	Refractory acne and 21-hydroxylase deficiency in a se lected group of female patients. (20110635)	Caputo V.... Niceta M.	2010	CYP21A2
4	The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency. (19201236)	Lee Y.J.... Lee H.H.	2009	HLA-DRB1, HLA-B, CYP21A2
5	Monogenic and polygenic models detected in steroid 21-hydroxylase deficiency-related paediatric hyperandrogenism. (19039234)	Ezquieta B.... BellA^n J.M.	2009	CYP21A2
6	Does an altered leptin axis play a role in obesity among children and adolescents with classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency? (19004982)	VAPlkl T.M.... DAPrr H.G.	2009	LEP, CYP21A2
7	Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. (18039588)	Lee H.H.... Lin S.J.	2008	TNXB, CYP21A2, CYP21A1P
8	Incidence of classical 21-hydroxylase deficiency and distribution of CYP21A2 mutations in Estonia. (18204270)	Liivak K.... Tillmann V.	2008	CYP21A2
9	Identification of frequency and distribution of the nine most frequent mutations among patients with 21-hydroxylase deficiency in Turkey. (18825878)	Sadeghi F.... Tukun A.	2008	CYP21A2
10	High frequency of copy number variations and sequence variants at CYP21A2 locus: implication for the genetic diagnosis of 21-hydroxylase deficiency. (18478071)	Parajes S.... Loidi L.	2008	CYP21A2
11	Classical forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency in adults. (18204267)	Bachelot A.... Touraine P.	2008	CYP21A2
12	Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report. (18996819)	Mapas-Dimaya A.C.... Sacerdote A.S.	2008	CYP21A2
13	Prenatal diagnosis and treatment of congenital adrena l hyperplasia owing to 21-hydroxylase deficiency. (17452967)	Nimkarn S.... New M.I.	2007	CYP21A2
14	Microconversion between CYP21A2 and CYP21A1P promoter regions causes the nonclassical form of 21-hydroxylase deficiency. (17666484)	Araujo R.S.... Bachega T.A.	2007	CYP21A2, CYP21A1P
15	Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (17885806)	Riepe F.G.... Sippell W.G.	2007	CYP21A2
16	Fractures and bone mineral density in adult women with 21-hydroxylase deficiency. (17878254)	Falhammar H.... Thoren M.	2007	CYP21A2
17	Maternal 21-hydroxylase deficiency and uniparental isodisomy of chromosome 6 and X results in a child with 21-hydroxylase deficiency and Klinefelter syndrome. (16906568)	Parker E.A.... Merke D.P.	2006	CYP21A2
18	Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. (15775714)	Vakili R.... Abbaszadegan M.R.	2005	CYP21A2, INTS6
19	Congenital adrenal hyperplasia: the molecular basis of 21-hydroxylase deficiency in H-2(aw18) mice. (15731361)	Riepe F.G.... Krone N.	2005	CYP21A2
20	The chimeric CYP21P/CYP21 gene and 21-hydroxylase deficiency. (14730433)	Lee H.H.	2004	TNXB, CYP21A2, STK19
21	Multicentric study of Brazilian patients with 21-hydroxylase deficiency: a genotype-phenotype correlation (15761541)	Bachega T.A.... Mendonca B.B.	2004	CYP21A2
22	Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment. (12718369)	Poyrazoglu S.... Darendeliler F.	2003	CYP21A2, LSL
23	A novel semiquantitative polymerase chain reaction/enzyme digestion-based method for detection of large scale deletions/conversions of the CYP21 gene and mutation screening in Turkish families with 21-hydroxylase deficiency. (14671187)	Tukel T.... Wollnik B.	2003	CYP21A1P
24	Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. (11344938)	Speiser P.W.	2001	CYP21A2
25	Failure of cortisone acetate therapy in 21-hydroxylase deficiency in early infancy. (11737708)	Jinno K.... Kihara M.	2001	POMC, CYP21A2
26	Prenatal diagnosis and treatment of steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). (11216381)	Mathur R.... Kabra M.	2000	CYP21A2
27	A novel missense mutation, GLY424SER, in Brazilian patients with 21- hydroxylase deficiency. (10443693)	Billerbeck A.E.C.... Mendonca B.B.	1999	CYP21A2
28	Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency. (10229037)	Paulino L.C.... de Mello M.P.	1999	CYP21A2, CYP21A1P
29	Prenatal dexamethasone treatment does not prevent alterations of the hypothalamic pituitary adrenal axis in steroid 21-hydroxylase deficient mice. (10385433)	Tajima T.... Aguilera G.	1999	POMC, CYP21A2, CRH
30	Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996 (10079883)	Cartigny-Maciejewski M.... Paux E.	1999	CYP21A2
31	Prenatal diagnosis of steroid 21-hydroxylase deficiency by the modified polymerase chain reaction to detect splice site mutation in the CYP21 gene. (9790262)	Tajima T.... Cutler G.B.	1998	CYP21A2
32	Obesity in 21-hydroxylase deficient patients. (9613359)	Cornean R.E.... Brook C.G.	1998	CYP21A2
33	Aldosterone production despite absence or defectiveness of the CYP21 genes in two patients with salt-losing congenital adrenal hyperplasia caused by steroid 21-hydroxylase deficiency. (10209571)	Koppens P.F.... Degenhart H.J.	1998	CYP21A2, CYP21A1P
34	Molecular genetic analysis of patients carrying steroid 21- hydroxylase deficiency in the Mexican population: identification of possible new mutations and high prevalence of apparent germ-line mutations. (9580109)	Ordonez-Sanchez M.L.... Tusie-Luna M.T.	1998	CYP21A2
35	Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)	Maciel-Guerra A.T.... Marques-de-Faria A.P.	1997	CYP21A2
36	Prenatal diagnosis of congenital adrenal hyperplasia (21-hydroxylase deficiency) in Croatia. (9332659)	Dumic M.... New M.I.	1997	CYP21A2
37	E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (9067760)	Kirby-Keyser L.... Donohoue P.A.	1997	CYP21A2
38	Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. (8968761)	Day D.J.... White P.C.	1996	CYP21A2
39	A case of silent 21-hydroxylase deficiency with persistent adrenal insufficiency after removal of an adrenal incidentaloma. (8706282)	Nagasaka S.... Nishikawa T.	1996	CYP21A2
40	Androstenedione aromatization as a cause of gynecomastia in 11beta-hydroxylase and 21-hydroxylase deficiencies. (15251547)	Blackett MD P.R.... Freeman MD D.A.	1996	CYP21A2
41	Association of mixed gonadal dysgenesis and non-classic 21-hydroxylase deficiency (9033792)	Del Pino O.... Chaussain J.L.	1996	CYP21A2
42	Molecular pathology of 21-hydroxylase deficiency. (7967493)	Strachan T.	1994	CYP21A2, CYP21A1P
43	Adrenocorticotrophin stimulation and HLA polymorphisms suggest a high frequency of heterozygosity for steroid 21-hydroxylase deficiency in patients with Turner's syndrome and their families. (8306479)	Larizza D.... Severi F.	1994	CYP21A2
44	Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy. (8075752)	Khardori R.	1994	CYP21A2
45	Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels. (8421074)	DAPrr H.G.... Sippell W.G.	1993	CYP21A2
46	Auxological and biochemical parameters in assessing treatment of infants and toddlers with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (8348221)	Einaudi S.... De Sanctis C.	1993	CYP21A2
47	Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy. (8249954)	Bhatia V.... Gupta R.K.	1993	CYP21A2
48	Hydrometrocolpos following prenatal dexamethasone treatment for congenital adrenal hyperplasia (21-hydroxylase deficiency). (8444215)	Couper J.J.... Warne G.L.	1993	CYP21A2
49	R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. (1406709)	Helmberg A.... White P.C.	1992	CYP21A2, CYP21A1P
50	Genotype of Yupik Eskimos with congenital adrenal hyp erplasia due to 21-hydroxylase deficiency. (1551668)	Speiser P.W.... White P.C.	1992	CYP21A2

Genes related to 21-hydroxylase deficiency according to GeneCards:

(show all 39)

id	Symbol	Description	Score	GeneCards Section Context
1	CYP21A2	cytochrome P450, family 21, subfamily A, polypeptide 2	11.1	Publications, Summaries
2	CYP21A1P	cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene	11.1	Publications
3	HLA-B	major histocompatibility complex, class I, B	11.1	Publications
4	NDUFA6	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 6, 14kDa	11.0	Publications
5	TNXA	tenascin XA (pseudogene)	11.0	Publications
6	STK19	serine/threonine kinase 19	11.0	Publications
7	MC2R	melanocortin 2 receptor (adrenocorticotropic hormone)	11.0	Publications
8	HSD3B2	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	11.0	Publications
9	C4B	complement component 4B (Chido blood group)	11.0	Publications
10	CFB	complement factor B	11.0	Publications
11	TNXB	tenascin XB	11.0	Publications
12	C4A	complement component 4A (Rodgers blood group)	11.0	Publications
13	GHRH	growth hormone releasing hormone	11.0	Publications
14	SHBG	sex hormone-binding globulin	11.0	Publications
15	CGB5	chorionic gonadotropin, beta polypeptide 5	11.0	Publications
16	CYP11B1	cytochrome P450, family 11, subfamily B, polypeptide 1	11.0	Publications
17	LSL	Leptin, serum levels of	11.0	Publications
18	INTS6	integrator complex subunit 6	11.0	Publications
19	POMC	proopiomelanocortin	11.0	Publications
20	CRH	corticotropin releasing hormone	11.0	Publications
21	CYP11B2	cytochrome P450, family 11, subfamily B, polypeptide 2	11.0	Publications
22	POR	P450 (cytochrome) oxidoreductase	11.0	Publications
23	REN	renin	11.0	Publications
24	LEP	leptin	11.0	Publications
25	NR3C1	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	11.0	Publications
26	PRL	prolactin	11.0	Publications
27	AR	androgen receptor	11.0	Publications
28	ADIPOQ	adiponectin, C1Q and collagen domain containing	11.0	Publications
29	CYP2C19	cytochrome P450, family 2, subfamily C, polypeptide 19	11.0	Publications
30	ALPP	alkaline phosphatase, placental	11.0	Publications
31	AGTR1	angiotensin II receptor, type 1	11.0	Publications
32	AFP	alpha-fetoprotein	11.0	Publications
33	CYP3A4	cytochrome P450, family 3, subfamily A, polypeptide 4	11.0	Publications
34	GGT1	gamma-glutamyltransferase 1	11.0	Publications
35	IGFBP3	insulin-like growth factor binding protein 3	11.0	Publications
36	HLA-DRB1	major histocompatibility complex, class II, DR beta 1	11.0	Publications
37	GNRH1	gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)	11.0	Publications
38	GH1	growth hormone 1	11.0	Publications
39	INS	insulin	11.0	Publications

Pathways related to 21-hydroxylase deficiency according to GeneDecks:

(show all 15)

id	Pathway	Score	Top Affiliating Genes
1	Activation of C3 and C538	10.3	C4B, C4A, CFB
2	ACE Inhibitor Pathway, Pharmacodynamics34	10.2	AGTR1
3	Estrogen biosynthesis41	9.9	CYP3A4, CYP11B1, CYP2C19
4	Estrogen biosynthesis10	9.9	CYP11B1, CYP2C19, CYP3A4
5	Androstenedione and testosterone biosynthesis and metabolism p.141	9.8	HSD3B2, CYP2C19, CYP3A4
6	Clomipramine Pathway, Pharmacokinetics34	9.8	CYP3A4, CYP2C19
7	Steroid hormone biosynthesis20	9.8	CYP11B2, HSD3B2, CYP3A4, CYP11B1, CYP21A2
8	Androstenedione and testosterone biosynthesis and metabolism p.110	9.8	CYP2C19, CYP3A4, HSD3B2
9	Staphylococcus aureus infection20	9.8	CFB, HLA-DRB1, C4A, C4B
10	Agents Acting on the Renin-Angiotensin System Pathway, Pharmacodynamics34	9.8	REN, AGTR1, CYP11B2
11	Proton Pump Inhibitor Pathway, Pharmacokinetics34	9.7	CYP3A4, CYP2C19
12	Selected targets of CREB110	9.6	MC2R, CRH, INS, REN
13	Imipramine/Desipramine Pathway, Pharmacokinetics34	9.5	CYP3A4, CYP2C19
14	Selected targets of GCR-alpha10	9.1	NR3C1, CYP2C19, CYP3A4, INS, LEP
15	Neuroactive ligand-receptor interaction20	8.7	MC2R, LEP, GH1, NR3C1, PRL, AGTR1

Compounds related to 21-hydroxylase deficiency according to GeneDecks:

(show top 50)    (show all 334)

id	Compound	Score	Top Affiliating Genes
1	glucose32	10.6	CFB
2	fludrocortisone32 9 9	11.6	REN, AR, CYP11B2, CYP21A2, NR3C1, LSL
3	3beta-hydroxysteroid32	9.3	CGB5, AR, MC2R, HSD3B2, HLA-B, CYP11B2
4	haloperidol32 34 9 9	12.2	REN, CYP11B2, LSL, AGTR1, GGT1
5	11 deoxycortisol32	9.2	REN, CYP11B2, CYP11B1, CYP21A2, NR3C1, CRH
6	aminoglutethimide32 9 9	11.2	CGB5, AR, MC2R, CYP3A4, CYP2C19, CYP21A2
7	metyrapone32 42 9 9	12.1	MC2R, CYP11B2, CYP3A4, CYP11B1, CYP21A2, NR3C1
8	ketoconazole32 42 9 18 9	12.8	AR, CYP3A4, POMC, SHBG, CYP2C19, NR3C1
9	corticosterone32 18	9.7	CGB5, GH1, CYP11B2, CYP11B1, CYP21A2, CRH
10	phenytoin32 34 9 9	11.4	CYP3A4, GGT1, SHBG, NR3C1, CYP21A2, ALPP
11	spironolactone32 42 34 9 9	12.3	REN, AR, GNRH1, CYP11B2, CYP11B1, CYP21A2
12	17-hydroxyprogesterone32 18	9.1	POMC, ADIPOQ, POR, PRL, SHBG, REN
13	carbamazepine32 34 9 9	11.1	IGFBP3, ALPP, HLA-B, CYP3A4, CYP2C19, CRH
14	cortisone32 18	8.9	INS, GH1, CYP11B2, CYP11B1, CYP21A2, NR3C1
15	aspartate32	7.9	CRH, NR3C1, GHRH, GH1, SHBG, GNRH1
16	naltrexone32 34 9 9	10.8	GGT1, POMC, IGFBP3, GNRH1, GH1, GHRH
17	progestin32	7.7	ADIPOQ, POMC, PRL, SHBG, NR3C1, GNRH1
18	naloxone32 34 9 9	10.7	GNRH1, GHRH, CYP3A4, CRH, PRL, POMC
19	11beta-hydroxysteroid32	7.6	CYP11B1, CYP21A2, NR3C1, CRH, AGTR1, POMC
20	estradiol32 9 18 9	10.4	SHBG, AGTR1, PRL, POMC, AFP, CRH
21	gnrh32	7.4	CYP21A2, GHRH, GH1, IGFBP3, INS, AR
22	mifepristone32 42 9 9	10.4	CYP3A4, AFP, POMC, PRL, SHBG, CRH
23	ribonucleic acid32	7.4	CYP21A2, CRH, PRL, POMC, CYP11B1, CYP11B2
24	clonidine32 9 9	9.4	PRL, REN, LEP, IGFBP3, GH1, AGTR1
25	cocaine32 9 9	9.4	POMC, ALPP, NR3C1, CYP3A4, GNRH1, PRL
26	octreotide32 42 9 9	10.3	GHRH, CRH, LSL, PRL, POMC, ADIPOQ
27	clomiphene citrate32	7.3	CGB5, INS, IGFBP3, GNRH1, GH1, CYP21A2
28	metformin32 34 9 9	10.1	GGT1, POMC, LSL, ADIPOQ, SHBG, GH1
29	progesterone32 42 9 18 9	11.0	GNRH1, INTS6, AR, CGB5, HSD3B2, GH1
30	epinephrine32 9 18 9	10.0	AFP, POMC, POR, AGTR1, LSL, SHBG
31	creatinine32	6.8	REN, LEP, CGB5, IGFBP3, GH1, HLA-B
32	hydrocortisone32 9 9	8.6	REN, INS, MC2R, ALPP, GH1, CYP11B2
33	nifedipine32 9 9	8.6	GH1, GHRH, CYP11B2, CYP3A4, CYP2C19, CRH
34	dihydrotestosterone32 9 18 9	9.5	SHBG, PRL, POR, ADIPOQ, GGT1, NR3C1
35	cholesterol32 9 18 9	9.5	GGT1, AFP, IGFBP3, MC2R, INS, LEP
36	testosterone32 9 18 9	9.4	PRL, LSL, SHBG, CRH, CYP21A2, CYP11B1
37	dehydroepiandrosterone sulfate32	6.3	LEP, CGB5, AR, INS, MC2R, IGFBP3
38	estrone32 9 18 9	9.3	AFP, ADIPOQ, POR, LEP, CGB5, AR
39	dhea32	6.2	HSD3B2, GH1, HLA-B, CYP11B2, CYP21A2, NR3C1
40	tamoxifen32 34 9 9	8.9	CGB5, LEP, AR, IGFBP3, ALPP, GNRH1
41	norepinephrine32 9 18 9	8.6	GNRH1, GH1, GHRH, CYP11B2, CYP21A2, CRH
42	acth32	5.6	REN, LEP, CGB5, INS, MC2R, IGFBP3
43	thyroxine32 18	6.6	GNRH1, GH1, GHRH, CYP21A2, CRH, SHBG
44	steroid32	5.2	AFP, POMC, POR, PRL, C4B, HLA-B
45	alanine32	4.8	GH1, GNRH1, ALPP, IGFBP3, MC2R, INS
46	serine32	4.8	AGTR1, C4B, C4A, CRH, NR3C1, CYP21A2
47	androstenedione32 18	5.7	REN, LEP, CGB5, AR, INS, MC2R
48	estrogen32	4.5	AGTR1, IGFBP3, INS, AR, CGB5, LEP
49	arginine32	3.6	HLA-B, HLA-DRB1, CYP11B2, CYP11B1, CYP21A2, CRH
50	dexamethasone32 42 34 9 9	7.0	IGFBP3, ALPP, GNRH1, GH1, GHRH, HLA-B

Cellular components related to 21-hydroxylase deficiency according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	extracellular region	GO:005576	6.3	ADIPOQ, CFB, INS, IGFBP3, GNRH1, GH1
2	extracellular space	GO:005615	5.8	AFP, LEP, INS, IGFBP3, GNRH1, GH1

Biological processes related to 21-hydroxylase deficiency according to GeneDecks:

(show all 15)

id	Name	GO ID	Score	Top Affiliating Genes
1	regulation of complement activation	GO:030449	10.3	C4B, C4A, CFB
2	mineralocorticoid biosynthetic process	GO:006705	10.2	CYP11B2, CYP21A2, CYP11B1, HSD3B2
3	cortisol biosynthetic process	GO:034651	10.2	CYP11B2, CYP11B1
4	glucocorticoid biosynthetic process	GO:006704	10.2	CYP21A2, HSD3B2, CYP11B1, CRH
5	cellular response to potassium ion	GO:035865	10.1	CYP11B2, CYP11B1
6	aldosterone biosynthetic process	GO:032342	10.0	CYP11B2, CYP11B1
7	renin-angiotensin regulation of aldosterone production	GO:002018	9.9	AGTR1, REN
8	regulation of blood pressure	GO:008217	9.9	POMC, CYP11B1, LEP, REN
9	positive regulation of cellular protein metabolic process	GO:032270	9.6	INS, ADIPOQ, AGTR1
10	steroid metabolic process	GO:008202	9.5	CYP2C19, HSD3B2, CYP11B2, CYP21A2, CYP3A4, CYP11B1
11	female pregnancy	GO:007565	9.3	LEP, GNRH1, PRL, CRH
12	xenobiotic metabolic process	GO:006805	9.2	CYP11B2, GGT1, CYP11B1, CYP2C19, CYP3A4, CYP21A2
13	positive regulation of MAPK cascade	GO:043410	9.2	IGFBP3, INS, AR, LEP
14	positive regulation of insulin-like growth factor receptor signaling pathway	GO:043568	9.1	GHRH, GH1, IGFBP3, AR
15	small molecule metabolic process	GO:044281	7.7	POMC, NDUFA6, CYP21A2, CYP11B1, CYP2C19, CYP3A4

Molecular functions related to 21-hydroxylase deficiency according to GeneDecks:

(show all 9)

id	Name	GO ID	Score	Top Affiliating Genes
1	steroid 11-beta-monooxygenase activity	GO:004507	10.1	CYP11B1, CYP11B2
2	steroid hydroxylase activity	GO:008395	9.8	CYP21A2, CYP2C19, CYP3A4
3	steroid binding	GO:005496	9.5	NR3C1, CYP3A4, CYP21A2
4	heme binding	GO:020037	9.4	CYP21A2, CYP11B1, CYP2C19, CYP3A4, CYP11B2
5	prolactin receptor binding	GO:005148	9.4	GH1, PRL
6	iron ion binding	GO:005506	9.3	CYP11B2, CYP3A4, CYP2C19, CYP11B1, POR, CYP21A2
7	electron carrier activity	GO:009055	9.3	CYP21A2, CYP11B1, CYP2C19, CYP3A4, CYP11B2, POR
8	receptor binding	GO:005102	9.2	REN, AR, HLA-B, POMC, ADIPOQ, CRH
9	hormone activity	GO:005179	7.6	LEP, INS, GNRH1, GH1, CRH, PRL