CAH1
MCID: 21H001
MIFTS: 87

21-Hydroxylase Deficiency (CAH1) malady

Endocrine diseases, Reproductive diseases, Fetal diseases categories

Summaries for 21-Hydroxylase Deficiency

About this section
Sources:
21Genetics Home Reference, 42NIH Rare Diseases, 33MedlinePlus, 63Wikipedia, 46OMIM, 19GeneReviews, 32MalaCards
See all sources

Fully expand this MalaCard

Export this MalaCard
MedlinePlus:33 The adrenal glands are small glands located on top of each kidney. they produce hormones that you can't live without, including sex hormones and cortisol. cortisol helps you respond to stress and has many other important functions. with adrenal gland disorders, your glands make too much or not enough hormones. in 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. causes of adrenal gland disorders include genetic mutations tumors including pheochromocytomas infections a problem in another gland, such as the pituitary, which helps to regulate the adrenal gland certain medicinestreatment depends on which problem you have. surgery or medicines can treat many adrenal gland disorders. nih: national institute of child health and human development

MalaCards: 21-Hydroxylase Deficiency, also known as hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, is related to congenital adrenal hyperplasia and infertility. An important gene associated with 21-Hydroxylase Deficiency is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Glucocorticoid Pathway (HPA Axis), Pharmacodynamics and Activation of C3 and C5. The drugs hydrocortisone and hydrocortisone probutate and the compounds estrogen and 21-deoxycortisol have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, kidney and pituitary, and related mouse phenotypes are endocrine/exocrine gland and adipose tissue.

Genetics Home Reference:21 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.

NIH Rare Diseases:42 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. last updated: 2/22/2010

Wikipedia:63 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts... more...

Description from OMIM:46 201910

GeneReviews summary for cah

Aliases & Classifications for 21-Hydroxylase Deficiency

About this section
Sources:
32MalaCards, 63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 33MedlinePlus, 60UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Endocrine diseases, Reproductive diseases


Characteristics (Orphanet epidemiological data):

48
non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: >1/1000; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

21-hydroxylase deficiency 32 63 42 21 60
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 63 21 46
21-hydroxylase-deficient congenital adrenal hyperplasia 32 19 20
adrenogenital syndrome 63 44 60
congenital adrenal hyperplasia 63 60
21 hydroxylase deficiency 42 22
adrenal gland disorders 63 33
cyp21 deficiency 42 21
non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 48
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 48
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 46
congenital adrenal hyperplasia due to 21-hydroxylase deficiency 42
congenital adrenal hyperplasia due to 21 hydroxylase deficiency 21
virilizing adrenal hyperplasia 19
ondine-hirschsprung disease 60
chronic active hepatitis 60
classic 21-ohd cah 48
cah, 21-ohd 19
21-ohd 19
cah1 21
ncah 48


External Ids:

OMIM46 201910
ICD10 via Orphanet26 E25.0
ICD1025 E25, E25.9

Related Diseases for 21-Hydroxylase Deficiency

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to 21-Hydroxylase Deficiency via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 247)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia31.8POMC, CYP11B2, HSD3B2, CYP21A2, MC2R, CYP11B1
2infertility30.7INS, LEP, LSL, GHRH, CYP21A2
3hyperandrogenism30.5LEP, CYP21A2, HSD3B2, LSL, POMC, CRH
4hypothyroidism30.5LEP, INS, POMC, LSL, GHRH
5antley-bixler syndrome30.4POR, CYP21A2
6pseudohermaphroditism30.4HSD3B2
7obesity30.4POMC, GHRH, CRH, CFB, CYP21A2, LSL
8adenoma30.4POMC, INS, MC2R, CYP21A2, CYP11B2, CYP11B1
9adrenal carcinoma30.3POMC
10hepatitis30.3CFB
11amenorrhea30.3CRH, INS, LEP, POMC
12anorexia nervosa30.3LEP, CRH, GHRH, LSL, POMC
13cytochrome p450 oxidoreductase deficiency30.2POR
14osteoporosis30.2LSL, TNXA, CYP21A2, LEP
15hypertension30.2CYP11B2, CRH, LEP, POMC, INS, CYP11B1
16thyroiditis30.1POMC
17adenocarcinoma30.1TNXA, CYP21A2
18hypokalemia30.1INS, POMC, CYP11B2
19diabetes mellitus30.1LSL, INS, POMC, LEP
20polycystic ovary syndrome30.0LEP, CYP21A2, INS
21hyperthyroidism30.0LSL, GHRH, INS, LEP
22hypopituitarism30.0POMC, CRH, GHRH, LEP, INS, CYP21A2
23adrenal adenoma30.0CRH, MC2R, CYP11B1, CYP21A2, POR, POMC
24systemic lupus erythematosus30.0C4A
25lupus erythematosus30.0C4A
26acanthosis nigricans30.0INS, LEP, CYP21A2
27hyperprolactinemia30.0GHRH, POMC, CRH
28adrenocortical carcinoma30.0CYP11B2, POMC, CYP11B1
29cushing's syndrome30.0CRH, POMC
30hyperaldosteronism30.0CYP21A2, CYP11B1, CYP11B2, POMC
31hepatitis b10.8
32hepatitis c10.7
33hepatitis a10.7
34late-onset congenital adrenal hyperplasia10.6
35autoimmune hepatitis10.6
36pseudohypoaldosteronism10.4
37congenital central hypoventilation syndrome10.4
38complement deficiency10.4
39congenital hypothyroidism10.4
403-beta-hydroxysteroid dehydrogenase deficiency10.4
4117-alpha-hydroxylase deficiency10.4
42disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
43lichen planus10.4
44hepatocellular carcinoma10.4
45liver cirrhosis10.4
46viral hepatitis10.3
47testicular leydig cell tumor10.3
4811-beta-hydroxylase-deficient congenital adrenal hyperplasia10.3
49cholesterol desmolase-deficient congenital adrenal hyperplasia10.3
50adrenal rest tumor10.3

Graphical network of the top 20 diseases related to 21-Hydroxylase Deficiency:



Diseases related to 21-hydroxylase deficiency

Clinical Features for 21-Hydroxylase Deficiency

About this section
Sources:
46OMIM
See all sources

Clinical features from OMIM:

201910

Clinical synopsis from OMIM:

201910

Drugs & Therapeutics for 21-Hydroxylase Deficiency

About this section
Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
See all sources

Genetic Tests for 21-Hydroxylase Deficiency

About this section
Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to 21-Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia20 CYP21A2
2 21-Hydroxylase Deficiency22

Anatomical Context for 21-Hydroxylase Deficiency

About this section
Sources:
32MalaCards
See all sources

MalaCards organs/tissues related to 21-Hydroxylase Deficiency:

32
Adrenal gland, Kidney, Pituitary, Cortex, Adrenal cortex, Skin, Bone, Testes, Ovary, Liver, Brain

Animal Models for 21-Hydroxylase Deficiency or affiliated genes

About this section
Sources:
36MGI
See all sources

MGI Mouse Phenotypes related to 21-Hydroxylase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.1GHRH, CYP11B1, CYP11B2, MC2R
2MP:000537510.1LEP, INS, MC2R, CYP11B1, POMC
3MP:00053679.9CFB, C4B, POR, POMC, CYP11B1, CYP11B2
4MP:00053709.9C4B, GHRH, POR, POMC, CYP11B1, INS
5MP:00053769.4C4B, CRH, GHRH, POR, POMC, CYP11B1
6MP:00053879.4C4B, CRH, GHRH, POMC, CYP11B1, MC2R

Publications for 21-Hydroxylase Deficiency

About this section
Sources:
50PubMed
See all sources

Articles related to 21-Hydroxylase Deficiency:

(show top 50)    (show all 597)
idTitleAuthorsYear
1
Cardiovascular risk factors in children and adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (23751160)
2013
2
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (22270393)
2012
3
Two-step biochemical differential diagnosis of classic 21-hydroxylase deficiency and cytochrome P450 oxidoreductase deficiency in Japanese infants by GC-MS measurement of urinary pregnanetriolone/ tetrahydroxycortisone ratio and 11I^-hydroxyandrosterone. (22273564)
2012
4
Initial high dose hydrocortisone (HDC) treatment for 21-hydroxylase deficiency (21-OHD) does not affect linear growth during the first three years of life. (22785554)
2012
5
Gender dichotomy in long term growth trajectories of children with 21-hydroxylase deficiency congenital adrenal hyperplasia. (20962509)
2011
6
Quality of life is less impaired in adults with congenital adrenal hyperplasia because of 21-hydroxylase deficiency than in patients with primary adrenal insufficiency. (21050254)
2011
7
Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy. (21912141)
2011
8
Long-Term Gynecological Outcomes in Women with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. (20981283)
2010
9
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil. (19347184)
2009
10
Prenatal diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (19101608)
2009
11
Extraadrenal 21-hydroxylation by CYP2C19 and CYP3A4: effect on 21-hydroxylase deficiency. (18957504)
2009
12
The gene founder effect of two spontaneous mutations in ethnic Chinese (Taiwanese) CAH patients with 21-hydroxylase deficiency. (19201236)
2009
13
The prevalence of 21-hydroxylase deficiency in adrenal incidentalomas - hormonal and mutation screening. (18589890)
2008
14
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (17200174)
2007
15
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is associated with a prolonged gestational age. (17449515)
2007
16
Nonclassic steroid 21-hydroxylase deficiency due to a homozygous V281L mutation in CYP21A2 detected by the neonatal mass-screening program in Japan. (18048990)
2007
17
Genotyping of congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as male infertility: case report and literature review. (17033937)
2006
18
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (16396852)
2006
19
Molecular analysis of the CYP21 gene and prenatal diagnosis in families with 21-hydroxylase deficiency in northeastern Iran. (15775714)
2005
20
Clinical manifestations and hormonal profile of two women with Cushing's disease and mild deficiency of 21-hydroxylase. (15717659)
2004
21
Genetic analysis of Japanese patients with 21-hydroxylase deficiency: identification of a patient with a new mutation of a homozygous deletion of adenine at codon 246 and patients without demonstrable mutations within the structural gene for CYP21. (12050231)
2002
22
Prenatal diagnosis of 21-hydroxylase deficiency caused by gene conversion and rearrangements: pitfalls and molecular diagnostic solutions. (12478627)
2002
23
Epidemiology of 21-hydroxylase deficiency in Singapore. (12008686)
2002
24
H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency. (11739456)
2001
25
Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency. (10949235)
2000
26
Long-term follow-up of female patients with congenital adrenal hyperplasia from 21-hydroxylase deficiency, with special emphasis on the results of vaginoplasty. (10930925)
2000
27
Polycythemia in a patient with 21-hydroxylase deficiency. (11114823)
2000
28
Effect of carbenoxolone on the plasma renin activity and hypothalamic-pituitary-adrenal axis in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (10469007)
1999
29
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency. (10496074)
1999
30
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)
1998
31
Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency. (9851787)
1998
32
Spontaneous thyrotropin and cortisol secretion interactions in patients with nonclassical 21-hydroxylase deficiency and control children. (9360525)
1997
33
21-hydroxylase deficiency. (9238271)
1997
34
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (9100612)
1997
35
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. (9215318)
1997
36
Treatment-induced hypoandrogenism in childhood and puberty in females with virilizing (21-hydroxylase deficiency) congenital adrenal hyperplasia. (8943784)
1996
37
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (8923864)
1996
38
Phenotypic evolution of classic 21-hydroxylase deficiency. (8796146)
1996
39
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. (7629224)
1995
40
Urinary 17 alpha-hydroxyprogesterone in management of 21-hydroxylase deficiency. (7748691)
1995
41
Molecular diagnosis of 21-hydroxylase deficiency: detection of four mutations on a single gel. (8192919)
1994
42
Temporal and individual variations in the dose of glucocorticoid used for the treatment of salt-losing congenital virilizing adrenal hyperplasia due to 21-hydroxylase deficiency. (8329832)
1993
43
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. (1406699)
1992
44
Prenatal diagnosis and therapy of adrenogenital syndrome with 21-hydroxylase deficiency]. (1294431)
1992
45
Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes. (1684434)
1991
46
Decreased levels of steroid 21-hydroxylase [P450(c21)] and its mRNA in an adrenocortical adenoma associated with 21-hydroxylase deficiency. (2101789)
1990
47
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (2164496)
1990
48
Clinical and genetic characterization of nonclassic 21-hydroxylase deficiency. (2788081)
1989
49
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1. (3260007)
1988
50
Comparison of the structure of HLA-Bw47 to HLA-B13 and its relationship to 21-hydroxylase deficiency. (3257938)
1988

Genetic Variations for 21-Hydroxylase Deficiency

About this section
Sources:
62UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for 21-Hydroxylase Deficiency:

62 (show all 116)
id Symbol AA change Variation ID SNP ID
1CYP21A2p.Pro30LeuVAR_001281
2CYP21A2p.Pro30LeuVAR_001281
3CYP21A2p.Pro105LeuVAR_001284
4CYP21A2p.Pro105LeuVAR_001284
5CYP21A2p.Cys169TyrVAR_001285
6CYP21A2p.Cys169TyrVAR_001285
7CYP21A2p.Ile172AsnVAR_001286
8CYP21A2p.Ile172AsnVAR_001286
9CYP21A2p.Ile236AsnVAR_001288
10CYP21A2p.Ile236AsnVAR_001288
11CYP21A2p.Val237GluVAR_001289rs12530380
12CYP21A2p.Val237GluVAR_001289rs12530380
13CYP21A2p.Met239LysVAR_001290rs6476
14CYP21A2p.Met239LysVAR_001290rs6476
15CYP21A2p.Val281LeuVAR_001292rs6471
16CYP21A2p.Val281LeuVAR_001292rs6471
17CYP21A2p.Gly291SerVAR_001293
18CYP21A2p.Gly291SerVAR_001293
19CYP21A2p.Arg339HisVAR_001294
20CYP21A2p.Arg339HisVAR_001294
21CYP21A2p.Arg341TrpVAR_001295
22CYP21A2p.Arg341TrpVAR_001295
23CYP21A2p.Arg356ProVAR_001296
24CYP21A2p.Arg356ProVAR_001296
25CYP21A2p.Arg356GlnVAR_001297
26CYP21A2p.Arg356GlnVAR_001297
27CYP21A2p.Arg356TrpVAR_001298
28CYP21A2p.Arg356TrpVAR_001298
29CYP21A2p.Glu380AspVAR_001299
30CYP21A2p.Glu380AspVAR_001299
31CYP21A2p.Pro453SerVAR_001300rs6445
32CYP21A2p.Pro453SerVAR_001300rs6445
33CYP21A2p.Arg483ProVAR_001301
34CYP21A2p.Arg483ProVAR_001301
35CYP21A2p.Gly64GluVAR_007923
36CYP21A2p.Gly64GluVAR_007923
37CYP21A2p.Ala362ValVAR_007924
38CYP21A2p.Ala362ValVAR_007924
39CYP21A2p.His62LeuVAR_018364
40CYP21A2p.His62LeuVAR_018364
41CYP21A2p.Gly291ArgVAR_018365
42CYP21A2p.Gly291ArgVAR_018365
43CYP21A2p.Ser301TyrVAR_018366
44CYP21A2p.Ser301TyrVAR_018366
45CYP21A2p.Arg341ProVAR_018367
46CYP21A2p.Arg341ProVAR_018367
47CYP21A2p.Arg483GlnVAR_018368
48CYP21A2p.Arg483GlnVAR_018368
49CYP21A2p.Ala15ThrVAR_026059rs63749090
50CYP21A2p.Ala15ThrVAR_026059rs63749090
51CYP21A2p.Pro30GlnVAR_026060
52CYP21A2p.Pro30GlnVAR_026060
53CYP21A2p.Gly90ValVAR_026061
54CYP21A2p.Gly90ValVAR_026061
55CYP21A2p.Arg124HisVAR_026062rs72552750
56CYP21A2p.Arg124HisVAR_026062rs72552750
57CYP21A2p.Gly178AlaVAR_026063rs72552751
58CYP21A2p.Gly178AlaVAR_026063rs72552751
59CYP21A2p.Val211LeuVAR_026064
60CYP21A2p.Val211LeuVAR_026064
61CYP21A2p.Leu261ProVAR_026065
62CYP21A2p.Leu261ProVAR_026065
63CYP21A2p.Val281GlyVAR_026066
64CYP21A2p.Val281GlyVAR_026066
65CYP21A2p.Met283LeuVAR_026067
66CYP21A2p.Met283LeuVAR_026067
67CYP21A2p.Gly291CysVAR_026068
68CYP21A2p.Gly291CysVAR_026068
69CYP21A2p.Leu300PheVAR_026069
70CYP21A2p.Leu300PheVAR_026069
71CYP21A2p.Leu317MetVAR_026071
72CYP21A2p.Leu317MetVAR_026071
73CYP21A2p.Arg354CysVAR_026072
74CYP21A2p.Arg354CysVAR_026072
75CYP21A2p.Arg354HisVAR_026073
76CYP21A2p.Arg354HisVAR_026073
77CYP21A2p.Leu363TrpVAR_026074
78CYP21A2p.Leu363TrpVAR_026074
79CYP21A2p.His365TyrVAR_026075
80CYP21A2p.His365TyrVAR_026075
81CYP21A2p.Arg408CysVAR_026077
82CYP21A2p.Arg408CysVAR_026077
83CYP21A2p.Gly424SerVAR_026078
84CYP21A2p.Gly424SerVAR_026078
85CYP21A2p.Arg426HisVAR_026079
86CYP21A2p.Arg426HisVAR_026079
87CYP21A2p.Arg435CysVAR_026080
88CYP21A2p.Arg435CysVAR_026080
89CYP21A2p.Arg479LeuVAR_026081
90CYP21A2p.Arg479LeuVAR_026081
91CYP21A2p.Pro482SerVAR_026082
92CYP21A2p.Pro482SerVAR_026082
93CYP21A2p.Arg483TrpVAR_026083
94CYP21A2p.Arg483TrpVAR_026083
95CYP21A2p.Gly56ArgVAR_065668
96CYP21A2p.Gly56ArgVAR_065668
97CYP21A2p.Ile77ThrVAR_065669
98CYP21A2p.Ile77ThrVAR_065669
99CYP21A2p.Leu107ArgVAR_065670
100CYP21A2p.Leu107ArgVAR_065670
101CYP21A2p.Lys121GlnVAR_065671
102CYP21A2p.Lys121GlnVAR_065671
103CYP21A2p.Leu142ProVAR_065672
104CYP21A2p.Leu142ProVAR_065672
105CYP21A2p.Leu167ProVAR_065673
106CYP21A2p.Leu167ProVAR_065673
107CYP21A2p.Ile230ThrVAR_065674
108CYP21A2p.Ile230ThrVAR_065674
109CYP21A2p.Arg233LysVAR_065675
110CYP21A2p.Arg233LysVAR_065675
111CYP21A2p.Gly292AspVAR_065676
112CYP21A2p.Gly292AspVAR_065676
113CYP21A2p.Glu320LysVAR_065677
114CYP21A2p.Glu320LysVAR_065677
115CYP21A2p.Arg369TrpVAR_065678
116CYP21A2p.Arg369TrpVAR_065678

Expression for genes affiliated with 21-Hydroxylase Deficiency

About this section
Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with 21-Hydroxylase Deficiency

Search GEO for disease gene expression data for 21-Hydroxylase Deficiency.

Pathways for genes affiliated with 21-Hydroxylase Deficiency

About this section
Sources:
49PharmGKB, 53Reactome, 12EMD Millipore, 29KEGG, 37NCBI BioSystems Database
See all sources

Pathways related to 21-Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CRH, POMC
2
Hide members
10.3C4A, CFB
3
Immune response Lectin induced complement pathway
Hide members
10.2CFB, C4B, C4A
410.2CFB, C4B, C4A
510.2C4A, C4B, CFB
610.2CYP11B1, CYP11B2, CYP21A2
710.2CRH, MC2R, INS
8
Hide members
10.1CYP21A2, CYP11B2, CYP11B1, HSD3B2
9
Hide members
10.1HSD3B2, CYP11B1, CYP11B2, CYP21A2
10
Hide members
10.1CYP21A2, CYP11B2, CYP11B1, HSD3B2
11
Hide members
10.1CYP21A2, CYP11B2, CYP11B1, POR
12
Hide members
10.1CRH, GHRH, POMC, MC2R
13
Hide members
10.0LEP, MC2R, POMC, GHRH, CRH

Compounds for genes affiliated with 21-Hydroxylase Deficiency

About this section
Sources:
44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
See all sources

Compounds related to 21-Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show top 50)    (show all 116)
idCompoundScoreTop Affiliating Genes
1estrogen4410.6POR
221-deoxycortisol44 2411.5POMC, CYP11B1, CYP11B2, CYP21A2
3norepinephrine44 11 2412.5GHRH, POMC, CYP11B2, CYP21A2
4deoxycorticosterone28 2411.5HSD3B2, CYP21A2, CYP11B1, CYP11B2
517-hydroxypregnenolone4410.5POR, POMC, HSD3B2, CYP21A2
6fludrocortisone44 28 1112.5CYP21A2, POMC, CYP11B2, LSL
7serine4410.5POMC, STK19, POR, GHRH, LEP
8doca4410.5CYP11B2, CYP11B1, CYP21A2, POMC
9acipimox44 2811.5GHRH, LSL, INS, LEP
10cortisol28 2411.5CYP11B1, HSD3B2, CYP21A2, CYP11B2, POMC
1111 deoxycortisol4410.5POMC, CYP11B1, CRH, CYP11B2, CYP21A2
1218-hydroxycorticosterone44 2411.4CYP11B1, POMC, CYP11B2
13fenfluramine28 44 1112.4LEP, POMC, GHRH, CRH
14Corticotropin1110.4MC2R, CRH, HSD3B2
15spironolactone49 44 59 28 1114.4CRH, CYP11B1, CYP21A2, POMC, CYP11B2
16shu 911944 5911.4POMC, LEP, MC2R
17pcb 1264410.4CYP21A2, CYP11B2, CYP11B1
18acth 1-244410.4CYP21A2, POMC, CRH
19cortisone44 2411.4POMC, CRH, CYP11B1, CYP11B2, INS, CYP21A2
20octreotide44 59 28 1113.4INS, POMC, GHRH, CRH, LSL
21etomidate44 1111.3POMC, CYP11B2, CYP11B1
22thyroxine44 2411.3CRH, GHRH, LSL, POMC, LEP, CYP21A2
2317-hydroxyprogesterone44 2411.3POR, POMC, CYP11B1, CYP21A2, CRH, HSD3B2
24corticosterone44 59 2412.3LEP, CYP11B2, CYP11B1, CYP21A2, POMC, CRH
25metyrapone59 44 1112.3POMC, CRH, POR, CYP11B1, CYP11B2, CYP21A2
26gnrh4410.3POMC, GHRH, CRH, INS, LEP, LSL
27forskolin44 49 1112.3POMC, CYP11B1, GHRH, CRH, MC2R, CYP11B2
283beta-hydroxysteroid4410.3CYP21A2, CYP11B1, CYP11B2, POMC, POR, MC2R
29epinephrine44 11 2412.3INS, LEP, CYP21A2, POMC, POR, CRH
30dehydroepiandrosterone sulfate4410.2MC2R, CYP21A2, POMC, CRH, LSL, INS
31alpha msh4410.2LEP, POMC, CRH
3211beta-hydroxysteroid4410.2HSD3B2, CRH, POMC, CYP11B1, CYP11B2, CYP21A2
33naloxone44 49 28 1113.2LEP, POMC, GHRH, CRH
34nifedipine44 49 28 1113.2CYP11B2, LEP, CRH, POR, GHRH
35hydrocortisone44 2 59 1113.2POMC, CRH, LSL, CYP11B2, CYP11B1, CYP21A2
36ribonucleic acid4410.2MC2R, GHRH, CYP11B1, CRH, CYP11B2, CYP21A2
37estradiol44 11 2412.2POMC, CRH, GHRH, LEP, LSL, CYP21A2
38ketoconazole44 28 11 2413.2CYP21A2, CYP11B1, POMC, CRH
39acth4410.1CYP11B2, CYP21A2, LEP, CYP11B1, POMC, GHRH
40progesterone44 59 28 11 2414.1GHRH, CRH, LEP, CYP11B2, CYP11B1, POMC
41dhea4410.0POMC, CYP11B2, CYP21A2, MC2R, INS, LEP
42cholesterol44 28 11 2413.0INS, CYP11B1, LSL, CYP11B2, CYP21A2, HSD3B2
43glycerol44 11 2412.0INS, POMC, LEP, LSL, CRH
44androstenedione44 2410.9HSD3B2, LSL, CRH, POR, POMC, CYP11B1
45sibutramine44 1110.9INS, LSL, LEP
46alanine449.9CYP11B1, MC2R, CYP11B2, POMC, POR, CRH
47dexamethasone44 49 28 1112.9MC2R, INS, CYP21A2, CYP11B2, CYP11B1, POMC
48arginine449.9CYP11B2, CYP11B1, POMC, INS, TNXA, POR
49testosterone44 59 11 2412.8INS, MC2R, CYP21A2, LEP, HSD3B2, CYP11B2
50steroid449.5POMC, POR, GHRH, CRH, C4B, C4A

GO Terms for genes affiliated with 21-Hydroxylase Deficiency

About this section
Sources:
16Gene Ontology
See all sources

Cellular components related to 21-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00574310.1CYP11B2, CYP11B1, NDUFA6, HSD3B2
2secretory granule lumenGO:03477410.0POMC, INS
3extracellular spaceGO:0056159.9LEP, TNXB, C4A, C4B, CRH, GHRH
4extracellular regionGO:0055769.7C4A, C4B, CRH, GHRH, POMC, INS

Biological processes related to 21-Hydroxylase Deficiency according to GeneCards/GeneDecks:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1aldosterone biosynthetic processGO:03234210.5CYP11B2, CYP11B1
2sterol metabolic processGO:01612510.5CYP21A2, CYP11B2, CYP11B1
3regulation of complement activationGO:03044910.5CFB, C4B, C4A
4negative regulation of glucagon secretionGO:07009310.4LEP, CRH
5cortisol biosynthetic processGO:03465110.4CYP11B2, CYP11B1
6glucocorticoid biosynthetic processGO:00670410.4HSD3B2, CRH, CYP11B1, CYP21A2
7mineralocorticoid biosynthetic processGO:00670510.4CYP21A2, CYP11B2, CYP11B1, HSD3B2
8steroid metabolic processGO:00820210.4HSD3B2, CYP11B1, CYP11B2, CYP21A2
9positive regulation of cAMP biosynthetic processGO:03081910.4CRH, GHRH, MC2R
10positive regulation of insulin receptor signaling pathwayGO:04662810.3LEP, INS
11complement activationGO:00695610.3C4A, C4B, CFB
12cellular response to potassium ionGO:03586510.3CYP11B2, CYP11B1
13regulation of blood pressureGO:00821710.1POMC, CYP11B1, LEP
14C21-steroid hormone biosynthetic processGO:00670010.0CYP11B2, CYP11B1

Molecular functions related to 21-Hydroxylase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1steroid 11-beta-monooxygenase activityGO:00450710.2CYP11B2, CYP11B1
2hormone activityGO:00517910.2LEP, INS, POMC, CRH
3electron carrier activityGO:00905510.1CYP21A2, CYP11B2, CYP11B1, POR
4iron ion bindingGO:0055069.8POR, CYP11B1, CYP11B2, CYP21A2

Products for genes affiliated with 21-Hydroxylase Deficiency

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 21-Hydroxylase Deficiency

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet