CAH
MCID: CNG368
MIFTS: 64

Congenital Adrenal Hyperplasia (CAH) malady

Endocrine category

Summaries for Congenital Adrenal Hyperplasia

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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Disease Ontology:8 A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgeny manifestations resulting from steroidogenic enzyme deficiency.

MalaCards: Congenital Adrenal Hyperplasia, also known as congenital lipoid adrenal hyperplasia, is related to adrenal rest tumor and infertility. An important gene associated with Congenital Adrenal Hyperplasia is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Pregnenolone biosynthesis and Androgen biosynthesis. The drugs hydrocortisone and hydrocortisone probutate and the compounds estrogen and deoxycorticosterone have been mentioned in the context of this disorder. Affiliated tissues include ovary, liver and cortex, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Wikipedia:64 Congenital adrenal hyperplasia (CAH) refers to any of several autosomal recessive diseases resulting... more...

Description from OMIM:47 201710

Aliases & Classifications for Congenital Adrenal Hyperplasia

Sources:
8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 45Novoseek, 47OMIM
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Endocrine


Aliases & Descriptions:

congenital adrenal hyperplasia 8 43 20 22
congenital lipoid adrenal hyperplasia 8 43
lipoid congenital adrenal hyperplasia 43 45
lipoid cah 8 43
congenital adrenal hyperplasia lipoid 43
adrenal hyperplasia congenital 45
adrenal hyperplasia 1 8
cah 43


External Ids:

Disease Ontology8 DOID:0050811
OMIM47 201710

Related Diseases for Congenital Adrenal Hyperplasia

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases related to Congenital Adrenal Hyperplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 187)
idRelated DiseaseScoreTop Affiliating Genes
1adrenal rest tumor35.9CYP21A2, NR5A1
2infertility35.8LEP, CYP21A2, HSD3BP4, LSL, STAR, INS
3adenoma35.6POMC, HSD3BP4, CYP17A1, INS, CYP11A1, CYP21A2
4adenocarcinoma35.1NR5A1, CYP21A2, STAR
5lipoid adrenal hyperplasia30.7STAR
6precocious puberty30.7LSL, POMC, CYP11B1, CYP21A2, LEP
7adrenal adenoma30.6POMC, CYP11A1, CYP21A2, CYP11B2, CYP11B1, CYP17A1
8antley-bixler syndrome30.5CYP17A1, CYP21A2, POR
9cushing's syndrome30.5INS, POMC, CYP11B1, CYP11B2, CYP21A2
10hyperandrogenism30.5LEP, INS, CYP17A1, CYP11A1, CYP21A2, POMC
11acute adrenal insufficiency30.4POMC, CYP21A2
12adrenal carcinoma30.4POMC
13congenital adrenal insufficiency30.4STAR, CYP11A1
14amenorrhea30.4INS, POMC, LEP
15insulin resistance30.4CYP21A2, LEP, CYP17A1, LSL, INS
16polycystic ovary syndrome30.4STAR, INS, CYP17A1, CYP21A2, CYP11A1, LEP
17anorexia nervosa30.4LEP, POMC, LSL
18cytochrome p450 oxidoreductase deficiency30.1POR
19hyperprolactinemia30.1POMC
20acanthosis nigricans30.1INS, LEP, CYP21A2
21hypokalemia30.1CYP17A1, CYP11B2, POMC, INS
22growth hormone deficiency30.1INS, LEP, LSL, POMC
23blindness30.1INS
24prolactinoma13.3NR5A1, POMC
25klinefelter's syndrome13.3CYP21A2, NR5A1
26hypospadias13.3NR5A1, CYP17A1, HSD3B2, CYP21A2
27addison's disease13.3HSD3B2, STAR, NR5A1, POR, POMC, CYP11B2
28adrenocortical carcinoma13.3NR5A1, POMC, CYP11B2, CYP11B1
29breast cancer13.3CYP21A2, CYP17A1, POR, LEP, NR5A1, CYP11A1
30choriocarcinoma13.3STAR, NR5A1, HSD3BP4, CYP11A1, LEP
31endometriosis13.3NR5A1, CYP11A1, STAR, CYP17A1
32gonadal disease13.3POMC, NR5A1
33gonadal dysgenesis13.3NR5A1
34hypogonadism13.3INS, POMC, NR5A1, LEP, LSL
35leydig cell tumor13.3POMC, STAR, CYP21A2, CYP11A1, HSD3BP4, CYP17A1
36obesity13.3NR5A1, POMC, LEP, INS, CYP11A1, CYP21A2
37sex cord-gonadal stromal tumor13.3NR5A1, HSD3BP4
38pheochromocytoma13.3POMC, NR5A1
39x-linked adrenal hypoplasia congenita13.3NR5A1, STAR
40abrikosov's tumor13.3STAR, CYP11A1, NR5A1
41late-onset congenital adrenal hyperplasia10.9
4211-beta-hydroxylase deficiency10.7
4321-hydroxylase deficiency10.6
44pseudohypoaldosteronism10.5
45classic congenital lipoid adrenal hyperplasia due to star deficency10.5
46non-classic congenital lipoid adrenal hyperplasia due to star deficency10.5
47congenital hypothyroidism10.4
4817-alpha-hydroxylase deficiency10.4
49disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
50testicular leydig cell tumor10.3

Graphical network of the top 20 diseases related to Congenital Adrenal Hyperplasia:



Diseases related to congenital adrenal hyperplasia

Clinical Features for Congenital Adrenal Hyperplasia

Sources:
47OMIM
See all sources

Clinical features from OMIM:

201710

Drugs & Therapeutics for Congenital Adrenal Hyperplasia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Congenital Adrenal Hyperplasia

Drug clinical trials:

Search ClinicalTrials for Congenital Adrenal Hyperplasia

Search NIH Clinical Center for Congenital Adrenal Hyperplasia

Search CenterWatch for Congenital Adrenal Hyperplasia

Inferred drug relations via UMLS61/NDF-RT41:

Show with subtypes

Genetic Tests for Congenital Adrenal Hyperplasia

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Congenital Adrenal Hyperplasia:

id Genetic test Affiliating Genes
1 Congenital Adrenal Hyperplasia20 22

Anatomical Context for Congenital Adrenal Hyperplasia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Congenital Adrenal Hyperplasia:

33
Ovary, Liver, Cortex, Thyroid, Adrenal gland, Prostate, Testis, T cells, B cells, Amygdala, Fetal liver, Fetal thyroid, Adrenal cortex, Pituitary, Testis leydig

Animal Models for Congenital Adrenal Hyperplasia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Congenital Adrenal Hyperplasia

Sources:
51PubMed
See all sources

Articles related to Congenital Adrenal Hyperplasia:

(show top 50)    (show all 685)
idTitleAuthorsYear
1
Increased psychiatric morbidity in men with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (24302749)
2013
2
Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (21597280)
2011
3
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (22123283)
2011
4
Transient pseudohypoaldosteronism masquerading as congenital adrenal hyperplasia. (21525149)
2011
5
Chimeric CYP21A1P/CYP21A2 genes identified in Czech patients with congenital adrenal hyperplasia. (20970527)
2011
6
Mutational characterization of steroid 21-hydroxylase gene in Portuguese patients with congenital adrenal hyperplasia. (19856253)
2010
7
Growth impairment in a boy with late-onset congenital adrenal hyperplasia and anorexia nervosa. (20198557)
2010
8
Endogenous hyperandrogenism and exercise capacity lessons from the exercise-congenital adrenal hyperplasia model. (21714454)
2010
9
Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency. (20844025)
2010
10
Increased liver enzymes in adult women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (19352053)
2009
11
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia. (19449670)
2009
12
Bone mineral density in girls with classical congenital adrenal hyperplasia due to CYP21 deficiency. (19189689)
2008
13
Sexual orientation in women with classical or non-classical congenital adrenal hyperplasia as a function of degree of prenatal androgen excess. (18157628)
2008
14
A compound heterozygous mutation in the CYP17 (17alpha-hydroxylase/17,20-lyase) gene in a Chinese subject with congenital adrenal hyperplasia. (17379008)
2007
15
Cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (16508325)
2006
16
Distribution of the V281L mutation of the CYP21 gene in Israeli congenital adrenal hyperplasia patients and its association with HLA- B14. (17551464)
2006
17
Estimation of the false-negative rate in newborn screening for congenital adrenal hyperplasia. (15941926)
2005
18
Follow-up of 68 children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: relevance of genotype for management. (12788866)
2003
19
Fertility in women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (12665708)
2003
20
Phenotype and genotype correlation of the microconversion from the CYP21A1P to the CYP21A2 gene in congenital adrenal hyperplasia. (14502362)
2003
21
Neonatal screening for congenital adrenal hyperplasia in Shanghai areas]. (11955341)
2002
22
High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland. (12213856)
2002
23
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). (11392180)
2001
24
Adrenal nodules in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: regression after adequate hormonal control. (11327375)
2001
25
Bioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (11250647)
2001
26
Congenital adrenal hyperplasia: epidemiology, management and practical drug treatment. (11577925)
2001
27
Congenital adrenal hyperplasia: management during critical illness. (11420193)
2001
28
Mutational analysis in Lebanese patients with congenital adrenal hyperplasia due to a deficit in 21-hydroxylase. (10971093)
2000
29
Genetic and endocrinological evaluations of three 46,XX patients with congenital lipoid adrenal hyperplasia previously reported as having presented spontaneous puberty. (11200945)
2000
30
Congenital adrenal hyperplasia (21-hydroxylase deficiency) without demonstrable genetic mutations. (9920112)
1999
31
Neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: Lille experience 1980-1996]. (10079883)
1999
32
Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. (9050951)
1997
33
Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia. (8669955)
1996
34
Classical form of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Genetic considerations in light of personal studies]. (7784603)
1995
35
Steroid 21-hydroxylase deficiency (congenital adrenal hyperplasia). (7825636)
1995
36
Serum 3 alpha-androstanediol glucuronide measurements in children with congenital adrenal hyperplasia. (7952161)
1994
37
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (7926082)
1994
38
Molecular genetic prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization. (8146433)
1994
39
Infantile galactosialidosis presenting with congenital adrenal hyperplasia and renal hypertension. (8216548)
1993
40
Prenatal dexamethasone treatment in pregnancies at risk for congenital adrenal hyperplasia due to 21-hydroxylase deficiency: effect on midgestational amniotic fluid steroid levels. (8421074)
1993
41
Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme. (7682938)
1993
42
Atrial natriuretic peptide and fludrocortisone therapy in congenital adrenal hyperplasia. (1387331)
1992
43
Inherited congenital adrenal hyperplasia in the rabbit: absent cholesterol side-chain cleavage cytochrome P450 gene expression. (1611996)
1992
44
A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-beta-hydroxylase deficiency in Campania region. (2365957)
1990
45
Molecular characterization of a Leydig cell tumor presenting as congenital adrenal hyperplasia. (2555382)
1989
46
Congenital adrenal hyperplasia due to combined 21- and 11 beta-hydroxylase deficiency. (2614011)
1989
47
Late onset congenital adrenal hyperplasia in a Puerto Rican family: hormonal and HLA typing. (3026413)
1986
48
No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. (6601238)
1983
49
Malignant hypertension in congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency. (6603291)
1983
50
Congenital adrenal hyperplasia (pseudohermaphroditism) before and after cortisone therapy. I. Adolescent development and menstruation. (13339874)
1956

Genetic Variations for Congenital Adrenal Hyperplasia

Expression for genes affiliated with Congenital Adrenal Hyperplasia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Congenital Adrenal Hyperplasia

Search GEO for disease gene expression data for Congenital Adrenal Hyperplasia.

Pathways for genes affiliated with Congenital Adrenal Hyperplasia

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
See all sources

Pathways related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show all 13)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3CYP11A1, STAR
2
Hide members
10.3CYP17A1, HSD3B2
310.2CPN1, CYP17A1, HSD3B2
4
Hide members
10.2POMC, INS, CPN1
5
Estrone metabolism
Hide members
10.2HSD3B2, CYP11B1, CYP17A1, CPN1
610.1CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
7
Hide members
10.1CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1
810.1HSD3B2, STAR, CYP17A1, CYP11A1, INS
9
Hide members
10.0POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
10
Hide members
10.0HSD3B2, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
11
Hide members
10.0HSD3B2, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
12
Hide members
9.9HSD3B2, STAR, CYP11B1, CYP11B2, CYP17A1, CYP21A2
13
Hide members
9.9CYP11A1, HSD3B2, STAR, CYP11B1, CYP11B2, CYP17A1

Compounds for genes affiliated with Congenital Adrenal Hyperplasia

Sources:
45Novoseek, 29IUPHAR, 24HMDB, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

Compounds related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 128)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8POR
2deoxycorticosterone29 2411.5HSD3B2, CYP11B2, CYP21A2, CYP11B1
3Pregnenolone11 2411.5CYP17A1, CYP11A1, CYP21A2, HSD3B2
4pcb 1264510.5CYP21A2, CYP11B1, CYP17A1, CYP11B2
521-deoxycortisol45 2411.5POMC, CYP11B1, CYP21A2, CYP11B2, CYP17A1
6acth 1-244510.5CYP11A1, CYP21A2, CYP17A1, POMC
7cortisol29 2411.5HSD3B2, POMC, CYP11B1, CYP11B2, CYP21A2
8forskolin45 50 1112.5CYP17A1, CYP11B2, CYP11B1, STAR, POMC
918-hydroxycorticosterone45 2411.5POMC, CYP11B1, CYP11B2
1011 deoxycortisol4510.4CYP11B2, CYP11B1, POMC, CYP21A2, CYP17A1
11fludrocortisone45 29 1112.4LSL, POMC, CYP21A2, CYP11B2
12metyrapone60 45 1112.4POMC, CYP11B2, CYP21A2, POR, CYP11B1
1317-hydroxypregnenolone4510.4HSD3BP4, POMC, CYP17A1, HSD3B2, CYP21A2, POR
14cortisone45 2411.4CYP11B2, CYP21A2, CYP11B1, POMC, INS, LEP
15spironolactone50 45 60 29 1114.4CYP11B2, POMC, CYP11B1, CYP21A2
1617beta-hydroxysteroid4510.4CYP17A1, CYP11B2, STAR, HSD3BP4, HSD3B2, CYP11A1
17ketoconazole45 29 11 2413.3CYP11B1, CYP17A1, CYP11A1, POMC, CYP21A2, HSD3BP4
18doca4510.3POMC, CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1
19estrone45 29 11 2413.3LSL, POR, CYP17A1, LEP, HSD3BP4
20cycloheximide4510.3STAR
21serine4510.3STAR, POMC, LEP, POR
22heme29 11 2412.3POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
23metformin45 50 1112.3POMC, LSL, CYP17A1, CYP11A1, INS, LEP
24progestin4510.3CYP11A1, HSD3BP4, STAR, POMC, CYP17A1
25dihydrotestosterone45 29 11 2413.3CYP21A2, CYP11A1, HSD3B2, POR, CYP17A1, LEP
26hydrocortisone45 2 60 1113.3INS, CYP11B2, LSL, CYP11B1, POMC, CYP21A2
27norepinephrine45 11 2412.2POMC, CYP21A2, CYP11B2
28etomidate45 1111.2CYP11B2, CYP11B1, POMC
29ribonucleic acid4510.2POMC, CYP11A1, STAR, HSD3BP4, CYP21A2, CYP17A1
3017-hydroxyprogesterone45 2411.2CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, HSD3B2
31gnrh4510.2LSL, POMC, CYP17A1, CYP21A2, CYP11A1, INS
32nifedipine45 50 29 1113.2POR, CYP11A1, CYP17A1, LEP, CYP11B2
3311beta-hydroxysteroid4510.2HSD3B2, HSD3BP4, POMC, CYP11B1, CYP11B2, CYP17A1
34corticosterone45 60 2412.2CYP11A1, POMC, LSL, STAR, CYP11B1, CYP11B2
35epinephrine45 11 2412.1POMC, LSL, POR, LEP, INS, CYP21A2
363beta-hydroxysteroid4510.1CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, POMC
37dehydroepiandrosterone sulfate4510.1LEP, INS, CYP11A1, CYP21A2, HSD3B2, HSD3BP4
38estradiol45 11 2412.1CYP21A2, STAR, POMC, CYP11B1, CYP17A1, LSL
39cyclic amp45 2411.0STAR, HSD3BP4, CYP11B1, CYP11B2, CYP17A1, CYP11A1
40acth4510.0LEP, CYP11A1, HSD3B2, HSD3BP4, LSL, STAR
41oxygen45 2411.0C4A, POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2
42progesterone45 60 29 11 2414.0STAR, LSL, HSD3BP4, HSD3B2, POMC, CYP11B1
43cholesterol45 29 11 2413.0INS, HSD3B2, HSD3BP4, CYP17A1, CYP11B2, LSL
44diethylstilbestrol45 29 1111.9POR, STAR, CYP17A1
45arginine459.9CPN1, LSL, POR, POMC, CYP11B1, C4A
46dhea459.9LEP, INS, HSD3B2, HSD3BP4, LSL, STAR
47dexamethasone45 50 29 1112.9CYP11B2, CYP17A1, CYP21A2, CYP11A1, INS, LEP
48androstenedione45 2410.8LEP, INS, HSD3B2, HSD3BP4, LSL, STAR
49testosterone45 60 11 2412.8HSD3BP4, LSL, STAR, POR, POMC, CYP11B1
50steroid459.7CYP11A1, STAR, POR, POMC, CYP11B1, CYP11B2

GO Terms for genes affiliated with Congenital Adrenal Hyperplasia

Sources:
16Gene Ontology
See all sources

Cellular components related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1secretory granule lumenGO:03477410.3INS, POMC
2mitochondrial cristaGO:03006110.0CYP11A1, STAR

Biological processes related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show all 37)
idNameGO IDScoreTop Affiliating Genes
1regulation of steroid biosynthetic processGO:05081010.7STAR, LEP
2fractalkine metabolic processGO:05075610.7CYP11A1, STAR
3positive regulation of steroid hormone biosynthetic processGO:09003110.7POR, CYP17A1
4cortisol biosynthetic processGO:03465110.7CYP11B1, CYP11B2
5aldosterone biosynthetic processGO:03234210.6CYP11B1, CYP11B2
6response to fungicideGO:06099210.6STAR, CYP17A1, CYP11A1
7dibenzo-p-dioxin metabolic processGO:01889410.6STAR, CYP17A1, CYP11A1
8biphenyl metabolic processGO:01887910.6STAR, CYP17A1, CYP11A1
9response to insecticideGO:01708510.6CYP11A1, CYP17A1
10testosterone biosynthetic processGO:06137010.6STAR, CYP11A1
11phthalate metabolic processGO:01896310.6STAR, CYP17A1, CYP11A1
12cellular response to follicle-stimulating hormone stimulusGO:07137210.6CYP11A1, POR, STAR
13phenol-containing compound metabolic processGO:01895810.6STAR, CYP17A1, CYP11A1
14cellular response to potassium ionGO:03586510.6CYP11B1, CYP11B2
15cellular response to antibioticGO:07123610.6STAR, CYP17A1, CYP11A1
16steroid biosynthetic processGO:00669410.6HSD3B2, STAR, CYP17A1
17mineralocorticoid biosynthetic processGO:00670510.6HSD3B2, CYP11B1, CYP11B2, CYP21A2
18glucocorticoid biosynthetic processGO:00670410.6HSD3B2, CYP11B1, CYP17A1, CYP21A2
19progesterone biosynthetic processGO:00670110.6STAR, CYP11A1
20C21-steroid hormone biosynthetic processGO:00670010.6CYP11A1, CYP11B2, CYP11B1, STAR
21positive regulation of insulin receptor signaling pathwayGO:04662810.6INS, LEP
22response to herbicideGO:00963510.5CYP17A1, STAR
23regulation of blood pressureGO:00821710.5LEP, CYP11B1, POMC
24sterol metabolic processGO:01612510.5CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
25estrogen biosynthetic processGO:00670310.5CYP11A1, STAR
26cholesterol metabolic processGO:00820310.5LEP, CYP11A1, STAR
27cellular response to lipopolysaccharideGO:07122210.5STAR, CYP17A1, CYP11A1
28response to vitamin EGO:03319710.5LEP, CYP11A1
29xenobiotic metabolic processGO:00680510.5CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1
30androgen biosynthetic processGO:00670210.4HSD3B2, CYP17A1
31steroid metabolic processGO:00820210.4CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, STAR
32cellular response to cadmium ionGO:07127610.3CYP11A1, STAR
33Leydig cell differentiationGO:03332710.3CYP17A1, CYP11A1
34hormone metabolic processGO:04244510.3LEP
35response to drugGO:04249310.2CYP11A1, CYP17A1, POR, STAR
36small molecule metabolic processGO:04428110.2HSD3B2, STAR, CYP11B1, CYP11B2, CYP17A1, CYP21A2
37cellular response to peptide hormone stimulusGO:07137510.0CYP11A1, POR

Molecular functions related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00517910.2LEP, INS, POMC
2iron ion bindingGO:00550610.1CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, POR
3steroid 11-beta-monooxygenase activityGO:00450710.0CYP11B2, CYP11B1
4electron carrier activityGO:00905510.0POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
5heme bindingGO:02003710.0CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1

Products for genes affiliated with Congenital Adrenal Hyperplasia

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Sources for Congenital Adrenal Hyperplasia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet