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:

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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, Testis, Prostate, Thyroid, Liver, Cortex, Amygdala, 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
Adrenomegaly and septic adrenal hemorrhage (Waterhouse-Friderichsen syndrome) in the setting of congenital adrenal hyperplasia. (23814386)
2013
2
Androgens concentrations and second-to fourth-digit ratio (2D:4D) in girls with congenital adrenal hyperplasia (21-hydroxylase deficiency). (23391972)
2012
3
A girl with 45,X/46,XX Turner syndrome and salt wasting form of congenital adrenal hyperplasia due to regulatory changes. (23163125)
2012
4
Quantitation of 17-OH-progesterone (OHPG) for diagnosis of congenital adrenal hyperplasia (CAH). (20077078)
2010
5
Classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in croatia between 1995 and 2006. (19844117)
2009
6
Pioglitazone improves insulin resistance and decreases blood pressure in adult patients with congenital adrenal hyperplasia. (19755409)
2009
7
Blood Pressure and Left Ventricular Characteristics in Young Patients with Classical Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. (20169124)
2009
8
Precocious pubarche: distinguishing late-onset congenital adrenal hyperplasia from premature adrenarche. (19454583)
2009
9
Transient hyper-17-hydroxyprogesteronemia: a clinical subgroup of patients diagnosed at neonatal screening for congenital adrenal hyperplasia. (19451212)
2009
10
Non classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency in families from a Greek island with a closed society. (19205441)
2008
11
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. (17666473)
2007
12
Prenatal diagnosis and treatment of congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. (17452967)
2007
13
Long-term outcome of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (17170529)
2007
14
The face of late-onset congenital adrenal hyperplasia. (17663290)
2007
15
Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy. (16607929)
2006
16
21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (16046588)
2005
17
An update of congenital adrenal hyperplasia. (15838095)
2004
18
Case report: congenital adrenal hyperplasia and ambiguous genitalia due to 3 beta-hydroxysteroid dehydrogenase deficiency]. (15559435)
2004
19
Classic congenital adrenal hyperplasia and puberty. (15554890)
2004
20
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency associated with bilateral keratoconus. (12654384)
2003
21
Cortisol and 17-hydroxyprogesterone kinetics in saliva after oral administration of hydrocortisone in children and young adolescents with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (11889188)
2002
22
Multiple tumors associated with late-onset congenital adrenal hyperplasia due to aberrant splicing of adrenal 21-hydroxylase gene. (15251833)
2002
23
Antenatal diagnosis and treatment of congenital adrenal hyperplasia. (12084289)
2001
24
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (11598375)
2001
25
Prenatal treatment of congenital adrenal hyperplasia. The United States experience. (11344929)
2001
26
Characterization of a novel DNA polymorphism in the human CYP21 gene and application for DNA diagnosis of congenital adrenal hyperplasia. (11012565)
2000
27
Congenital lipoid adrenal hyperplasia. (10460667)
1999
28
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (10084573)
1999
29
Pharmacological agents in pregnancy to improve fetal conditions: prevention of fetal cardiac insufficiency, consequences of congenital adrenal hyperplasia and respiratory distress syndrome. (14988778)
1998
30
Targeted disruption of StAR provides novel insights into congenital adrenal hyperplasia. (9888583)
1998
31
Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. (9326645)
1997
32
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency). (9010713)
1997
33
Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. (9279522)
1997
34
Phenotypic heterogeneity associated with the splicing mutation in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (9100612)
1997
35
Late-onset congenital adrenal hyperplasia. (9238272)
1997
36
Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. (9141542)
1997
37
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. (8948562)
1996
38
Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency. (8777917)
1996
39
Hormonal and genetic analysis of a patient with congenital adrenal hyperplasia. (8787709)
1996
40
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by allele-specific hybridization and Southern blot. (8168813)
1994
41
Congenital adrenal hyperplasia among peripubertal girls with hyperandrogenism. (1601502)
1992
42
Genetic basis of endocrine disease 2: congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1727830)
1992
43
Genotype of Yupik Eskimos with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (1551668)
1992
44
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. (1661294)
1991
45
Screening for late onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (2164496)
1990
46
Polycystic ovarian disease and congenital and late-onset adrenal hyperplasia. (3058471)
1988
47
Salt loss in hypertensive form of congenital adrenal hyperplasia (11-beta-hydroxylase deficiency). (6607265)
1984
48
Urinary steroidal pattern of infants with congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency. (6968003)
1980
49
Genetics and pathology of hereditary adrenal hyperplasia in the rabbit: a model for congenital lipoid adrenal hyperplasia. (731013)
1978
50
Unusual association of Saethre-Chotzen syndrome and congenital adrenal hyperplasia. (862213)
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
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

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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