CAH
MCID: CNG368
MIFTS: 66

Congenital Adrenal Hyperplasia (CAH) malady

Endocrine diseases category

Summaries for Congenital Adrenal Hyperplasia

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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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 adrenal gland, bone and testes, and related mouse phenotypes are endocrine/exocrine gland and renal/urinary system.

Wikipedia:63 Congenital adrenal hyperplasia (CAH) are any of several autosomal recessive diseases resulting from... more...

Description from OMIM:46 201710

Aliases & Classifications for Congenital Adrenal Hyperplasia

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 44Novoseek, 46OMIM
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Classifications:

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


Aliases & Descriptions:

congenital adrenal hyperplasia 8 42 20 22
congenital lipoid adrenal hyperplasia 8 42
lipoid congenital adrenal hyperplasia 42 44
lipoid cah 8 42
congenital adrenal hyperplasia lipoid 42
adrenal hyperplasia congenital 44
adrenal hyperplasia 1 8
cah 42


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Disease Ontology8 DOID:0050811
OMIM46 201710

Related Diseases for Congenital Adrenal Hyperplasia

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17GeneCards, 18GeneDecks
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Diseases in the Congenital Adrenal Hyperplasia family:

Late-Onset Congenital Adrenal Hyperplasia

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

(show top 50)    (show all 179)
idRelated DiseaseScoreTop Affiliating Genes
1adrenal rest tumor35.8CYP21A2, NR5A1
2infertility35.7LEP, CYP21A2, HSD3BP4, LSL, STAR, INS
3leydig cell tumor35.7POMC, STAR, CYP21A2, CYP11A1, HSD3BP4, CYP17A1
4adenoma35.5POMC, HSD3BP4, CYP17A1, INS, CYP11A1, CYP21A2
5obesity35.3NR5A1, POMC, LEP, INS, CYP11A1, CYP21A2
6adenocarcinoma35.0NR5A1, CYP21A2, STAR
7pseudohermaphroditism30.9CYP17A1, HSD3B2
8hypertension30.8CYP11B1, CYP11B2, LEP, CYP17A1, POMC, INS
9hyperandrogenism30.7LEP, INS, CYP17A1, CYP11A1, CYP21A2, POMC
10hypothyroidism30.5POMC, LSL, INS, LEP
11adrenal adenoma30.5POMC, CYP11A1, CYP21A2, CYP11B2, CYP11B1, CYP17A1
12antley-bixler syndrome30.4CYP17A1, CYP21A2, POR
13congenital adrenal insufficiency30.4STAR, CYP11A1
14adrenal carcinoma30.3POMC
15ovarian disease30.3STAR
16amenorrhea30.3INS, POMC, LEP
17polycystic ovary syndrome30.3STAR, INS, CYP17A1, CYP21A2, CYP11A1, LEP
18anorexia nervosa30.3LEP, POMC, LSL
19cytochrome p450 oxidoreductase deficiency30.1POR
20lipoid adrenal hyperplasia30.1STAR
21thyroiditis30.1POMC
22hyperprolactinemia30.1POMC
23acanthosis nigricans30.1INS, LEP, CYP21A2
24hypokalemia30.1CYP17A1, CYP11B2, POMC, INS
25cushing's syndrome30.1INS, POMC, CYP11B1, CYP11B2, CYP21A2
26diabetes mellitus30.1LSL, POMC, INS, LEP
27prolactinoma13.3NR5A1, POMC
28klinefelter's syndrome13.3CYP21A2, NR5A1
29hypospadias13.3NR5A1, CYP17A1, HSD3B2, CYP21A2
30addison's disease13.3HSD3B2, STAR, NR5A1, POR, POMC, CYP11B2
31adrenocortical carcinoma13.3NR5A1, POMC, CYP11B2, CYP11B1
32breast cancer13.3CYP21A2, CYP17A1, POR, LEP, NR5A1, CYP11A1
33choriocarcinoma13.3STAR, NR5A1, HSD3BP4, CYP11A1, LEP
34endometriosis13.3NR5A1, CYP11A1, STAR, CYP17A1
35gonadal disease13.3POMC, NR5A1
36gonadal dysgenesis13.3NR5A1
37hypogonadism13.3INS, POMC, NR5A1, LEP, LSL
38sex cord-gonadal stromal tumor13.3NR5A1, HSD3BP4
39pheochromocytoma13.3POMC, NR5A1
40x-linked adrenal hypoplasia congenita13.3NR5A1, STAR
41abrikosov's tumor13.3STAR, CYP11A1, NR5A1
4221-hydroxylase deficiency11.3
4311-beta-hydroxylase deficiency10.7
44late-onset congenital adrenal hyperplasia10.6
45pseudohypoaldosteronism10.4
46male infertility10.4
47classic congenital lipoid adrenal hyperplasia due to star deficency10.4
48non-classic congenital lipoid adrenal hyperplasia due to star deficency10.4
49congenital hypothyroidism10.4
503-beta-hydroxysteroid dehydrogenase deficiency10.4

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



Diseases related to congenital adrenal hyperplasia

Clinical Features for Congenital Adrenal Hyperplasia

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46OMIM
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Clinical features from OMIM:

201710

Drugs & Therapeutics for Congenital Adrenal Hyperplasia

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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 UMLS60/NDF-RT40:

Show with subtypes

Genetic Tests for Congenital Adrenal Hyperplasia

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20GeneTests, 22GTR
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Genetic tests related to Congenital Adrenal Hyperplasia:

id Genetic test Affiliating Genes
1 Congenital Adrenal Hyperplasia20 22

Anatomical Context for Congenital Adrenal Hyperplasia

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32MalaCards
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MalaCards organs/tissues related to Congenital Adrenal Hyperplasia:

32
Adrenal gland, Bone, Testes, Pituitary, Ovary, Prostate, Testis, Cortex, Amygdala, Thyroid, Liver, Adrenal cortex

Animal Models for Congenital Adrenal Hyperplasia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Congenital Adrenal Hyperplasia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.2CYP11A1, CYP11B2, CYP11B1
2MP:000536710.0POMC, CYP11B1, CYP11B2, INS, LEP, POR
3MP:00053899.8STAR, POR, CYP11B1, CYP17A1, CYP11A1, INS
4MP:00053769.4STAR, POR, POMC, CYP11B1, CYP11B2, CYP17A1

Publications for Congenital Adrenal Hyperplasia

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50PubMed
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Articles related to Congenital Adrenal Hyperplasia:

(show top 50)    (show all 685)
idTitleAuthorsYear
1
Bone mineral density, bone markers, and fractures in adult males with congenital adrenal hyperplasia. (23211577)
2013
2
Hemiconvulsion-Hemiplegia-Epilepsy syndrome associated with inflammatory-degenerative hystopathological findings in child with congenital adrenal hyperplasia. (24355077)
2013
3
Testicular adrenal rest tumors develop independently of long-term disease control: a longitudinal analysis of 50 adult men with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency. (23969190)
2013
4
Non-classical congenital adrenal hyperplasia in association with porphyria cutanea tarda: co-incidence or trigger? (22783026)
2012
5
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
6
Giant ovarian cyst in a woman with congenital adrenal hyperplasia disappeared after adjustment of glucocorticoid therapy. (20467184)
2010
7
Management of altered hydrocortisone pharmacokinetics in a boy with congenital adrenal hyperplasia using a continuous subcutaneous hydrocortisone infusion. (19567522)
2009
8
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Croatia between 1995 and 2006. (19786796)
2009
9
Neonatal screening for congenital adrenal hyperplasia. (19690561)
2009
10
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (18923840)
2009
11
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. (19263525)
2009
12
A 31-year-old woman with infertility and polycystic ovaries diagnosed with non-classic congenital adrenal hyperplasia due to a novel CYP21 mutation. (18362511)
2008
13
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience. (18493149)
2008
14
Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report. (18996819)
2008
15
In Sicilian ethnic group non-classical congenital adrenal hyperplasia is frequently associated with a very mild genotype. (17505149)
2007
16
Adult consequences of congenital adrenal hyperplasia. (18174737)
2007
17
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (18174719)
2007
18
Over 50 years of progress in the treatment of the hypertensive form of congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. Commentary on Simm PJ and Zacharin MR: Successful pregnancy in a patient with severe 11-beta-hydroxylase deficiency and novel mutations in CYP11B1 gene (Horm Res 2007;68:294-297). (17726334)
2007
19
Late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency presenting as isolated premature thelarche. (17315534)
2007
20
Growth and pubertal characteristics in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (17937061)
2007
21
Analyzing the functional and structural consequences of two point mutations (P94L and A368D) in the CYP11B1 gene causing congenital adrenal hyperplasia resulting from 11-hydroxylase deficiency. (16670167)
2006
22
Evaluating the accuracy of Malformations Surveillance Program in detecting virilization due to congenital adrenal hyperplasia. (15737123)
2005
23
Functional characterization of two novel point mutations in the CYP21 gene causing simple virilizing forms of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (15483094)
2005
24
Rapid second-tier molecular genetic analysis for congenital adrenal hyperplasia attributable to steroid 21-hydroxylase deficiency. (15608154)
2005
25
Validation and clinical application of a locus-specific polymerase chain reaction- and minisequencing-based assay for congenital adrenal hyperplasia (21-hydroxylase deficiency). (15858147)
2005
26
Neonatal screening for congenital adrenal hyperplasia in North-Eastern Italy: a report three years into the program. (15818055)
2005
27
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia. (15985476)
2005
28
Normal bone mineral content in young adults with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (14676461)
2004
29
Blood pressure in children and adolescents with congenital adrenal hyperplasia (21-hydroxylase deficiency): a preliminary report. (12699440)
2003
30
Mutational spectrum of congenital adrenal hyperplasia in Slovenian patients: a novel Ala15Thr mutation and Pro30Leu within a larger gene conversion associated with a severe form of the disease. (12887291)
2003
31
Children with classic congenital adrenal hyperplasia have decreased amygdala volume: potential prenatal and postnatal hormonal effects. (12679470)
2003
32
Final height in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: the Italian experience. (12729404)
2003
33
Why is management of patients with classical congenital adrenal hyperplasia more difficult at puberty? (11919101)
2002
34
Multiplex minisequencing of the 21-hydroxylase gene as a rapid strategy to confirm congenital adrenal hyperplasia. (12028996)
2002
35
Hypothalamic-pituitary-thyroidal axis dysfunction and cortisol secretion in patients with nonclassical congenital adrenal hyperplasia. (11296811)
2001
36
Deletion hybrid genes, due to unequal crossing over between CYP11B1 (11beta-hydroxylase) and CYP11B2(aldosterone synthase) cause steroid 11beta-hydroxylase deficiency and congenital adrenal hyperplasia. (11443188)
2001
37
Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. (11571713)
2001
38
Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. (10700722)
2000
39
Fluorescent PCR and automated fragment analysis in preimplantation genetic diagnosis for 21-hydroxylase deficiency in congenital adrenal hyperplasia. (10381826)
1999
40
Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21- hydroxylase deficiency alleles associated with the classic form of the disease. (10364682)
1999
41
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. (10323391)
1999
42
Prenatal treatment of congenital adrenal hyperplasia. (10411084)
1999
43
Adrenarche does not occur in treated patients with congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. (7621563)
1995
44
Survival of steroid 21-hydroxylase-deficient mice without endogenous corticosteroids after neonatal treatment and genetic rescue by transgenesis as a model system for treatment of congenital adrenal hyperplasia in humans. (7925109)
1994
45
Personality characteristics and platelet MAO activity in women with congenital adrenal hyperplasia (CAH). (8416045)
1993
46
Prenatal diagnosis of congenital lipoid adrenal hyperplasia. (8469492)
1993
47
Prenatal treatment of congenital adrenal hyperplasia: report of a new case. (2406146)
1990
48
Improved test to identify heterozygotes for congenital adrenal hyperplasia without index case examination. (1971375)
1990
49
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease. (6254362)
1980
50
Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). (872430)
1977

Genetic Variations for Congenital Adrenal Hyperplasia

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Expression for genes affiliated with Congenital Adrenal Hyperplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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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
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10.3CYP17A1, HSD3B2
310.2CPN1, CYP17A1, HSD3B2
4
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10.2POMC, INS, CPN1
5
Estrone metabolism
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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
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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

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44Novoseek, 28IUPHAR, 24HMDB, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to Congenital Adrenal Hyperplasia according to GeneCards/GeneDecks:

(show top 50)    (show all 128)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8POR
2deoxycorticosterone28 2411.5HSD3B2, CYP11B2, CYP21A2, CYP11B1
3Pregnenolone11 2411.5CYP17A1, CYP11A1, CYP21A2, HSD3B2
4pcb 1264410.5CYP21A2, CYP11B1, CYP17A1, CYP11B2
521-deoxycortisol44 2411.5POMC, CYP11B1, CYP21A2, CYP11B2, CYP17A1
6acth 1-244410.5CYP11A1, CYP21A2, CYP17A1, POMC
7cortisol28 2411.5HSD3B2, POMC, CYP11B1, CYP11B2, CYP21A2
8forskolin44 49 1112.5CYP17A1, CYP11B2, CYP11B1, STAR, POMC
918-hydroxycorticosterone44 2411.5POMC, CYP11B1, CYP11B2
1011 deoxycortisol4410.4CYP11B2, CYP11B1, POMC, CYP21A2, CYP17A1
11fludrocortisone44 28 1112.4LSL, POMC, CYP21A2, CYP11B2
12metyrapone59 44 1112.4POMC, CYP11B2, CYP21A2, POR, CYP11B1
1317-hydroxypregnenolone4410.4HSD3BP4, POMC, CYP17A1, HSD3B2, CYP21A2, POR
14cortisone44 2411.4CYP11B2, CYP21A2, CYP11B1, POMC, INS, LEP
15spironolactone49 44 59 28 1114.4CYP11B2, POMC, CYP11B1, CYP21A2
1617beta-hydroxysteroid4410.4CYP17A1, CYP11B2, STAR, HSD3BP4, HSD3B2, CYP11A1
17ketoconazole44 28 11 2413.3CYP11B1, CYP17A1, CYP11A1, POMC, CYP21A2, HSD3BP4
18doca4410.3POMC, CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1
19estrone44 28 11 2413.3LSL, POR, CYP17A1, LEP, HSD3BP4
20cycloheximide4410.3STAR
21serine4410.3STAR, POMC, LEP, POR
22heme28 11 2412.3POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2, CYP11A1
23metformin44 49 1112.3POMC, LSL, CYP17A1, CYP11A1, INS, LEP
24progestin4410.3CYP11A1, HSD3BP4, STAR, POMC, CYP17A1
25dihydrotestosterone44 28 11 2413.3CYP21A2, CYP11A1, HSD3B2, POR, CYP17A1, LEP
26hydrocortisone44 2 59 1113.3INS, CYP11B2, LSL, CYP11B1, POMC, CYP21A2
27norepinephrine44 11 2412.2POMC, CYP21A2, CYP11B2
28etomidate44 1111.2CYP11B2, CYP11B1, POMC
29ribonucleic acid4410.2POMC, CYP11A1, STAR, HSD3BP4, CYP21A2, CYP17A1
3017-hydroxyprogesterone44 2411.2CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, HSD3B2
31gnrh4410.2LSL, POMC, CYP17A1, CYP21A2, CYP11A1, INS
32nifedipine44 49 28 1113.2POR, CYP11A1, CYP17A1, LEP, CYP11B2
3311beta-hydroxysteroid4410.2HSD3B2, HSD3BP4, POMC, CYP11B1, CYP11B2, CYP17A1
34corticosterone44 59 2412.2CYP11A1, POMC, LSL, STAR, CYP11B1, CYP11B2
35epinephrine44 11 2412.1POMC, LSL, POR, LEP, INS, CYP21A2
363beta-hydroxysteroid4410.1CYP11A1, CYP21A2, CYP17A1, CYP11B2, CYP11B1, POMC
37dehydroepiandrosterone sulfate4410.1LEP, INS, CYP11A1, CYP21A2, HSD3B2, HSD3BP4
38estradiol44 11 2412.1CYP21A2, STAR, POMC, CYP11B1, CYP17A1, LSL
39cyclic amp44 2411.0STAR, HSD3BP4, CYP11B1, CYP11B2, CYP17A1, CYP11A1
40acth4410.0LEP, CYP11A1, HSD3B2, HSD3BP4, LSL, STAR
41oxygen44 2411.0C4A, POR, CYP11B1, CYP11B2, CYP17A1, CYP21A2
42progesterone44 59 28 11 2414.0STAR, LSL, HSD3BP4, HSD3B2, POMC, CYP11B1
43cholesterol44 28 11 2413.0INS, HSD3B2, HSD3BP4, CYP17A1, CYP11B2, LSL
44diethylstilbestrol44 28 1111.9POR, STAR, CYP17A1
45arginine449.9CPN1, LSL, POR, POMC, CYP11B1, C4A
46dhea449.9LEP, INS, HSD3B2, HSD3BP4, LSL, STAR
47dexamethasone44 49 28 1112.9CYP11B2, CYP17A1, CYP21A2, CYP11A1, INS, LEP
48androstenedione44 2410.8LEP, INS, HSD3B2, HSD3BP4, LSL, STAR
49testosterone44 59 11 2412.8HSD3BP4, LSL, STAR, POR, POMC, CYP11B1
50steroid449.7CYP11A1, STAR, POR, POMC, CYP11B1, CYP11B2

GO Terms for genes affiliated with Congenital Adrenal Hyperplasia

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16Gene Ontology
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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

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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