CAH1
MCID: 21H001
MIFTS: 62

21-Hydroxylase Deficiency (CAH1) malady

Endocrine category

Summaries for 21-Hydroxylase Deficiency

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 34MedlinePlus, 64Wikipedia, 47OMIM, 19GeneReviews, 33MalaCards
See all sources

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MedlinePlus:34 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 acth deficiency. 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 cortex, kidney and adrenal gland, 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:43 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:64 Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (21-OH CAH), in all its forms, accounts... more...

Description from OMIM:47 201910

GeneReviews summary for cah

Aliases & Classifications for 21-Hydroxylase Deficiency

Sources:
33MalaCards, 64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 34MedlinePlus, 61UMLS, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 33 64 43 21 61
hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 64 21 47
21-hydroxylase-deficient congenital adrenal hyperplasia 33 19 20
adrenogenital syndrome 64 45 61
congenital adrenal hyperplasia 64 61
21 hydroxylase deficiency 43 22
adrenal gland disorders 64 34
cyp21 deficiency 43 21
non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 49
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 47
congenital adrenal hyperplasia due to 21-hydroxylase deficiency 43
congenital adrenal hyperplasia due to 21 hydroxylase deficiency 21
virilizing adrenal hyperplasia 19
ondine-hirschsprung disease 61
chronic active hepatitis 61
cah, 21-ohd 19
21-ohd 19
ncah 49
cah1 21


External Ids:

OMIM47 201910
ICD10 via Orphanet26 E25.0
ICD1025 E25, E25.9

Related Diseases for 21-Hydroxylase Deficiency

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 245)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia31.8CYP11B1, POMC, POR, CRH, C4A, TNXA
2acth deficiency30.7POMC, CRH
3infertility30.6LSL, GHRH, CYP21A2, INS, LEP
4hyperandrogenism30.6INS, CYP21A2, POMC, CRH, LSL, HSD3B2
5antley-bixler syndrome30.5CYP21A2, POR
6klinefelter's syndrome30.4CYP21A2
7adenoma30.4CRH, GHRH, POR, POMC, CYP11B1, CYP11B2
8adrenal carcinoma30.4POMC
9amenorrhea30.4LEP, INS, POMC, CRH
10anorexia nervosa30.4LSL, CRH, GHRH, POMC, LEP
11cytochrome p450 oxidoreductase deficiency30.3POR
12osteoporosis30.3LSL, TNXA, CYP21A2, LEP
13precocious puberty30.3LSL, POMC, CYP11B1, CYP21A2, LEP
14growth hormone deficiency30.3LSL, CRH, GHRH, POMC, INS, LEP
15blindness30.1INS
16adenocarcinoma30.1CYP21A2, TNXA
17familial glucocorticoid deficiency30.1MC2R, POMC
18triple-a syndrome30.1MC2R, POMC
19hypokalemia30.1INS, CYP11B2, POMC
20pituitary tumors30.1POMC, GHRH, CRH
21short stature30.1LEP, INS, CYP21A2, GHRH
22acanthosis nigricans30.1CYP21A2, INS, LEP
23hyperprolactinemia30.1POMC, GHRH, CRH
24adrenocortical carcinoma30.1POMC, CYP11B1, CYP11B2
25cushing's syndrome30.1CRH, POMC
26polycystic ovary syndrome30.0LEP, INS, CYP21A2
27insulin resistance30.0LSL, CYP21A2, INS, LEP
28adrenal adenoma30.0CRH, POR, POMC, CYP11B1, CYP21A2, MC2R
29systemic lupus erythematosus30.0C4A
30thyroiditis30.0POMC
31conn's syndrome30.0POMC, CYP11B1, CYP11B2
32hepatitis c11.0
33hepatitis a11.0
34hepatitis e10.8
35hepatitis d10.7
36hepatitis b10.6
37autoimmune hepatitis10.6
38lipoid adrenal hyperplasia10.5
39pseudohypoaldosteronism10.5
40hepatitis c virus10.5
41turner syndrome10.4
42congenital hypothyroidism10.4
43disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
44congenital central hypoventilation syndrome10.4
45late-onset congenital adrenal hyperplasia10.4
46lichen planus10.4
47testicular leydig cell tumor10.3
483-beta-hydroxysteroid dehydrogenase deficiency10.3
4911-beta-hydroxylase-deficient congenital adrenal hyperplasia10.3
50cholesterol desmolase-deficient congenital adrenal hyperplasia10.3

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



Diseases related to 21-hydroxylase deficiency

Clinical Features for 21-Hydroxylase Deficiency

Sources:
47OMIM
See all sources

Clinical features from OMIM:

201910

Clinical synopsis from OMIM:

201910

Drugs & Therapeutics for 21-Hydroxylase Deficiency

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

Genetic Tests for 21-Hydroxylase Deficiency

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

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to 21-Hydroxylase Deficiency:

33
Cortex, Kidney, Adrenal gland, Skin, Testis, Adrenal cortex, Pituitary

Animal Models for 21-Hydroxylase Deficiency or affiliated genes

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

Publications for 21-Hydroxylase Deficiency

Sources:
51PubMed
See all sources

Articles related to 21-Hydroxylase Deficiency:

idTitleAuthorsYear
1
Bilateral carcinoma in situ of the testis and cystic fibrosis transmembrane conductance regulator (CFTR) mutation in an azoospermic patient with late-onset 21beta-hydroxylase deficiency. (15233559)
2004

Genetic Variations for 21-Hydroxylase Deficiency

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for 21-Hydroxylase Deficiency:

63 (show all 58)
id Symbol AA change Variation SNP ID
1CYP21A2p.Pro30LeuVAR_001281
2CYP21A2p.Pro105LeuVAR_001284
3CYP21A2p.Cys169TyrVAR_001285
4CYP21A2p.Ile172AsnVAR_001286
5CYP21A2p.Ile236AsnVAR_001288
6CYP21A2p.Val237GluVAR_001289rs12530380
7CYP21A2p.Met239LysVAR_001290rs6476
8CYP21A2p.Val281LeuVAR_001292rs6471
9CYP21A2p.Gly291SerVAR_001293
10CYP21A2p.Arg339HisVAR_001294
11CYP21A2p.Arg341TrpVAR_001295
12CYP21A2p.Arg356ProVAR_001296
13CYP21A2p.Arg356GlnVAR_001297
14CYP21A2p.Arg356TrpVAR_001298
15CYP21A2p.Glu380AspVAR_001299
16CYP21A2p.Pro453SerVAR_001300rs6445
17CYP21A2p.Arg483ProVAR_001301
18CYP21A2p.Gly64GluVAR_007923
19CYP21A2p.Ala362ValVAR_007924
20CYP21A2p.His62LeuVAR_018364
21CYP21A2p.Gly291ArgVAR_018365
22CYP21A2p.Ser301TyrVAR_018366
23CYP21A2p.Arg341ProVAR_018367
24CYP21A2p.Arg483GlnVAR_018368
25CYP21A2p.Ala15ThrVAR_026059rs63749090
26CYP21A2p.Pro30GlnVAR_026060
27CYP21A2p.Gly90ValVAR_026061
28CYP21A2p.Arg124HisVAR_026062rs72552750
29CYP21A2p.Gly178AlaVAR_026063rs72552751
30CYP21A2p.Val211LeuVAR_026064
31CYP21A2p.Leu261ProVAR_026065
32CYP21A2p.Val281GlyVAR_026066
33CYP21A2p.Met283LeuVAR_026067
34CYP21A2p.Gly291CysVAR_026068
35CYP21A2p.Leu300PheVAR_026069
36CYP21A2p.Leu317MetVAR_026071
37CYP21A2p.Arg354CysVAR_026072
38CYP21A2p.Arg354HisVAR_026073
39CYP21A2p.Leu363TrpVAR_026074
40CYP21A2p.His365TyrVAR_026075
41CYP21A2p.Arg408CysVAR_026077
42CYP21A2p.Gly424SerVAR_026078
43CYP21A2p.Arg426HisVAR_026079
44CYP21A2p.Arg435CysVAR_026080
45CYP21A2p.Arg479LeuVAR_026081
46CYP21A2p.Pro482SerVAR_026082
47CYP21A2p.Arg483TrpVAR_026083
48CYP21A2p.Gly56ArgVAR_065668
49CYP21A2p.Ile77ThrVAR_065669
50CYP21A2p.Leu107ArgVAR_065670
51CYP21A2p.Lys121GlnVAR_065671
52CYP21A2p.Leu142ProVAR_065672
53CYP21A2p.Leu167ProVAR_065673
54CYP21A2p.Ile230ThrVAR_065674
55CYP21A2p.Arg233LysVAR_065675
56CYP21A2p.Gly292AspVAR_065676
57CYP21A2p.Glu320LysVAR_065677
58CYP21A2p.Arg369TrpVAR_065678

Expression for genes affiliated with 21-Hydroxylase Deficiency

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

Sources:
50PharmGKB, 54Reactome, 12EMD Millipore, 30KEGG, 38NCBI 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
110.3POMC, CRH
2
Hide members
10.3CFB, C4A
3
Immune response Lectin induced complement pathway
Hide members
10.2C4A, CFB, C4B
410.2CFB, C4A, C4B
510.2C4B, C4A, CFB
610.2CYP11B1, CYP21A2, CYP11B2
710.2CRH, MC2R, INS
8
Hide members
10.1CYP21A2, CYP11B2, CYP11B1, HSD3B2
9
Hide members
10.1CYP21A2, CYP11B2, CYP11B1, HSD3B2
10
Hide members
10.1CYP11B2, CYP11B1, HSD3B2, CYP21A2
11
Hide members
10.1CYP11B1, CYP11B2, CYP21A2, POR
12
Hide members
10.1CRH, MC2R, POMC, GHRH
13
Hide members
10.0LEP, MC2R, GHRH, CRH, POMC

Compounds for genes affiliated with 21-Hydroxylase Deficiency

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

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

(show top 50)    (show all 116)
idCompoundScoreTop Affiliating Genes
1estrogen4510.6POR
221-deoxycortisol45 2411.5POMC, CYP11B1, CYP11B2, CYP21A2
3norepinephrine45 11 2412.5GHRH, POMC, CYP11B2, CYP21A2
4deoxycorticosterone29 2411.5HSD3B2, CYP21A2, CYP11B1, CYP11B2
517-hydroxypregnenolone4510.5POR, POMC, HSD3B2, CYP21A2
6fludrocortisone45 29 1112.5CYP21A2, POMC, CYP11B2, LSL
7serine4510.5POMC, STK19, POR, GHRH, LEP
8doca4510.5CYP11B2, CYP11B1, CYP21A2, POMC
9acipimox45 2911.5GHRH, LSL, INS, LEP
10cortisol29 2411.5CYP11B1, HSD3B2, CYP21A2, CYP11B2, POMC
1111 deoxycortisol4510.5POMC, CYP11B1, CRH, CYP11B2, CYP21A2
1218-hydroxycorticosterone45 2411.4CYP11B1, POMC, CYP11B2
13fenfluramine29 45 1112.4LEP, POMC, GHRH, CRH
14Corticotropin1110.4MC2R, CRH, HSD3B2
15spironolactone50 45 60 29 1114.4CRH, CYP11B1, CYP21A2, POMC, CYP11B2
16shu 911945 6011.4POMC, LEP, MC2R
17pcb 1264510.4CYP21A2, CYP11B2, CYP11B1
18acth 1-244510.4CYP21A2, POMC, CRH
19cortisone45 2411.4POMC, CRH, CYP11B1, CYP11B2, INS, CYP21A2
20octreotide45 60 29 1113.4INS, POMC, GHRH, CRH, LSL
21etomidate45 1111.3POMC, CYP11B2, CYP11B1
22thyroxine45 2411.3CRH, GHRH, LSL, POMC, LEP, CYP21A2
2317-hydroxyprogesterone45 2411.3POR, POMC, CYP11B1, CYP21A2, CRH, HSD3B2
24corticosterone45 60 2412.3LEP, CYP11B2, CYP11B1, CYP21A2, POMC, CRH
25metyrapone60 45 1112.3POMC, CRH, POR, CYP11B1, CYP11B2, CYP21A2
26gnrh4510.3POMC, GHRH, CRH, INS, LEP, LSL
27forskolin45 50 1112.3POMC, CYP11B1, GHRH, CRH, MC2R, CYP11B2
283beta-hydroxysteroid4510.3CYP21A2, CYP11B1, CYP11B2, POMC, POR, MC2R
29epinephrine45 11 2412.3INS, LEP, CYP21A2, POMC, POR, CRH
30dehydroepiandrosterone sulfate4510.2MC2R, CYP21A2, POMC, CRH, LSL, INS
31alpha msh4510.2LEP, POMC, CRH
3211beta-hydroxysteroid4510.2HSD3B2, CRH, POMC, CYP11B1, CYP11B2, CYP21A2
33naloxone45 50 29 1113.2LEP, POMC, GHRH, CRH
34nifedipine45 50 29 1113.2CYP11B2, LEP, CRH, POR, GHRH
35hydrocortisone45 2 60 1113.2POMC, CRH, LSL, CYP11B2, CYP11B1, CYP21A2
36ribonucleic acid4510.2MC2R, GHRH, CYP11B1, CRH, CYP11B2, CYP21A2
37estradiol45 11 2412.2POMC, CRH, GHRH, LEP, LSL, CYP21A2
38ketoconazole45 29 11 2413.2CYP21A2, CYP11B1, POMC, CRH
39acth4510.1CYP11B2, CYP21A2, LEP, CYP11B1, POMC, GHRH
40progesterone45 60 29 11 2414.1GHRH, CRH, LEP, CYP11B2, CYP11B1, POMC
41dhea4510.0POMC, CYP11B2, CYP21A2, MC2R, INS, LEP
42cholesterol45 29 11 2413.0INS, CYP11B1, LSL, CYP11B2, CYP21A2, HSD3B2
43glycerol45 11 2412.0INS, POMC, LEP, LSL, CRH
44androstenedione45 2410.9HSD3B2, LSL, CRH, POR, POMC, CYP11B1
45sibutramine45 1110.9INS, LSL, LEP
46alanine459.9CYP11B1, MC2R, CYP11B2, POMC, POR, CRH
47dexamethasone45 50 29 1112.9MC2R, INS, CYP21A2, CYP11B2, CYP11B1, POMC
48arginine459.9CYP11B2, CYP11B1, POMC, INS, TNXA, POR
49testosterone45 60 11 2412.8INS, MC2R, CYP21A2, LEP, HSD3B2, CYP11B2
50steroid459.5POMC, POR, GHRH, CRH, C4B, C4A

GO Terms for genes affiliated with 21-Hydroxylase Deficiency

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:03477410.0INS, POMC
3extracellular spaceGO:0056159.9GHRH, TNXB, C4A, C4B, CRH, POMC
4extracellular regionGO:0055769.7CFB, C4A, LEP, INS, POMC, GHRH

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for 21-Hydroxylase Deficiency

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