CAH1
MCID: 21H001
MIFTS: 74

21-Hydroxylase Deficiency (CAH1) malady

Genetic diseases, Rare diseases, Endocrine diseases, Gastrointestinal diseases, Reproductive diseases, Fetal diseases categories
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Summaries for 21-Hydroxylase Deficiency

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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 based summary: 21-Hydroxylase Deficiency, also known as hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, is related to congenital adrenal hyperplasia and antley-bixler syndrome, and has symptoms including An important gene associated with 21-Hydroxylase Deficiency is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2), and among its related pathways are Staphylococcus aureus infection and Complement Pathway. The drugs hydrocortisone and hydrocortisone probutate and the compounds bamhi and 3beta-hydroxy-delta5-steroid have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, kidney and pituitary, and related mouse phenotype 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:65 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

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Sources:
32MalaCards, 65Wikipedia, 42NIH Rare Diseases, 21Genetics Home Reference, 62UMLS, 19GeneReviews, 20GeneTests, 33MedlinePlus, 44Novoseek, 46OMIM, 22GTR, 48Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

21-Hydroxylase Deficiency, Aliases & Descriptions:

Name: 21-Hydroxylase Deficiency 32 65 42 21 62
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 65 21 46
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 32 19 20
Adrenal Gland Disorders 65 33 62
Adrenogenital Syndrome 65 44 62
Cyp21 Deficiency 42 21 62
Congenital Adrenal Hyperplasia 65 62
21 Hydroxylase Deficiency 42 22
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 62
Chronic Active Hepatitis 62
Classic 21-Ohd Cah 48
Cah, 21-Ohd 19
21-Ohd 19
Ncah 48
Cah1 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Any age
non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: >1/1000; Age of onset: Adolescence / Young adulthood


External Ids:

OMIM46 201910
ICD10 via Orphanet26 E25.0
ICD1025 E25, E25.9, K73.2

Related Diseases for 21-Hydroxylase Deficiency

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

(show top 50)    (show all 128)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia31.5CYP21A2, MC2R, POMC, C4A
2antley-bixler syndrome31.2CYP21A2
3precocious puberty30.6CYP21A2, POMC
4hyperandrogenism30.6CAPN10, POMC, CYP21A2
5polycystic ovary syndrome30.4CYP21A2, CAPN10
6hypopituitarism30.4POMC, CYP21A2
7hyperaldosteronism30.4POMC, CYP21A2
8leydig cell tumor30.3CYP21A2, POMC
9familial glucocorticoid deficiency30.2MC2R, POMC
10diabetes mellitus30.2POMC, CAPN10
11cushing's syndrome30.0MC2R, CYP21A2, POMC
12adrenal adenoma29.9POMC, MC2R, CYP21A2
13adrenocortical carcinoma29.9POMC, MC2R, CYP21A2
14obesity29.9CYP21A2, MC2R, CAPN10, POMC
15adenoma29.8POMC, MC2R, CYP21A2
16infertility10.6
173-beta-hydroxysteroid dehydrogenase deficiency10.5
18pseudohypoaldosteronism10.5
1917-alpha-hydroxylase deficiency10.5
20late-onset congenital adrenal hyperplasia10.4
21congenital hypothyroidism10.4
22hypothyroidism10.4
23adrenal rest tumor10.4
2411-beta-hydroxylase-deficient congenital adrenal hyperplasia10.4
25disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
26acne10.3
27pseudohermaphroditism10.3
28turner syndrome10.3
29systemic lupus erythematosus10.3C4A
30hepatitis10.3
31amenorrhea10.3
32anorexia nervosa10.3
33ehlers-danlos syndrome10.3
34meningioma10.3
35porphyria10.3
36prostatitis10.3
37congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency10.3
3817-alpha-hydroxylase-deficient congenital adrenal hyperplasia10.3
39cholesterol desmolase-deficient congenital adrenal hyperplasia10.3
403-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia10.3
41androgen insensitivity syndrome10.3
42cystic lymphangioma10.3
43lymphangioma10.3
44lupus erythematosus10.3C4A
45male infertility10.2
46osteoporosis10.2
47gynecomastia10.2
48ovarian disease10.2
49cytochrome p450 oxidoreductase deficiency10.2
50classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form10.2

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



Diseases related to 21-hydroxylase deficiency

Symptoms for 21-Hydroxylase Deficiency

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Symptoms by clinical synopsis from OMIM:

201910

Clinical features from OMIM:

201910

HPO human phenotypes related to 21-Hydroxylase Deficiency:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypospadias HP:0000047
3 renal salt wasting HP:0000127
4 abnormality of the thorax HP:0000765
5 gynecomastia HP:0000771
6 hypertension HP:0000822
7 adrenogenital syndrome HP:0000840
8 growth abnormality HP:0001507
9 hypoglycemia HP:0001943
10 fever HP:0001945

Drugs & Therapeutics for 21-Hydroxylase Deficiency

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Genetic Tests for 21-Hydroxylase Deficiency

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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

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MalaCards organs/tissues related to 21-Hydroxylase Deficiency:

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

Animal Models for 21-Hydroxylase Deficiency or affiliated genes

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MGI Mouse Phenotypes related to 21-Hydroxylase Deficiency:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.5CAPN10, POMC, MC2R

Publications for 21-Hydroxylase Deficiency

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Articles related to 21-Hydroxylase Deficiency:

(show top 50)    (show all 601)
idTitleAuthorsYear
1
131I-Noriodocholesterol Uptake by Testicular Adrenal Rest Tumors in a Patient With Classical 21-Hydroxylase Deficiency. (25121463)
2014
2
Mineralocorticoid replacement during infancy for salt wasting congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (23525308)
2013
3
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. (24077358)
2013
4
Androgens concentrations and second-to fourth-digit ratio (2D:4D) in girls with congenital adrenal hyperplasia (21-hydroxylase deficiency). (23391972)
2012
5
A case of recurrent labial adhesions in a 15-month-old child with asymptomatic non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (23426836)
2012
6
Health problems in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (21597280)
2011
7
Autopsy and genetic diagnosis of 21-hydroxylase deficiency with bilateral testicular tumors in a case under no medication for over one year. (20951518)
2011
8
Molecular characterization of 25 Chinese pedigrees with 21-hydroxylase deficiency. (21198393)
2011
9
Relationships of basal level of serum 17-hydroxyprogesterone with that of serum androstenedione and their stimulated responses to a low dose of ACTH in young adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (22065901)
2011
10
High frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil. (19347184)
2009
11
Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. (18345402)
2008
12
Low frequency of the CYP21A2 deletion in ethnic Chinese (Taiwanese) patients with 21-hydroxylase deficiency. (18039588)
2008
13
Hypospadias in a male patient with 21-hydroxylase deficiency. (18719294)
2008
14
Serum total testosterone levels in a patient with late onset 21-hydroxylase deficiency and a twin gestation. (17418835)
2007
15
Should 21-hydroxylase deficiency genotyping be considered in assisted reproductive technology programs? (17481616)
2007
16
Cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (16508325)
2006
17
Nonclassic 21-hydroxylase deficiency. (16798278)
2006
18
Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-deoxycortisol in classic congenital adrenal hyperplasia: clinical and hormonal correlations and identification of patients with 11beta-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency. (16551734)
2006
19
21-Hydroxylase deficiency: an exemplary model of the contribution of molecular biology in the understanding and management of the disease. (15988383)
2005
20
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
21
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (15514016)
2004
22
Nonclassic 21-hydroxylase deficiency in Croatia. (15055349)
2004
23
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency--the adult woman. (15135781)
2004
24
Serum leptin levels in patients with 21-hydroxylase deficiency before and after treatment. (12718369)
2003
25
Frequency of CYP21 gene mutations in Czech patients with steroid 21-hydroxylase deficiency and statistical comparison with other populations. (12966197)
2003
26
Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB -TNXA hybrids in apparent large-scale gene conversions. (12354783)
2002
27
NIH conference. Future directions in the study and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (11848730)
2002
28
CNS germinoma in a boy with simple virilizing 21-hydroxylase deficiency and precocious puberty. (11926207)
2002
29
An overview of molecular diagnosis of steroid 21-hydroxylase deficiency. (11393164)
2001
30
Height outcome in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency: a meta-analysis. (11148508)
2001
31
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. (11093272)
2000
32
Child rate, pregnancy outcome and ovarian function in females with classical 21-hydroxylase deficiency. (10949235)
2000
33
Influence of different genotypes on 17-hydroxyprogesterone levels in patients with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (10792340)
2000
34
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
35
Conventional molecular diagnosis of steroid 21-hydroxylase deficiency using mismatched primers and polymerase chain reaction. (9378109)
1997
36
Female pseudohermaphroditism due to classical 21-hydroxylase deficiency in a girl with Turner syndrome. (9212186)
1997
37
Growth pattern during the first 36 months of life in congenital adrenal hyperplasia (21-hydroxylase deficiency). (9010713)
1997
38
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. (8968761)
1996
39
Usefulness of an ACTH test in the diagnosis of nonclassical 21-hydroxylase deficiency among children presenting with premature pubarche. (7590632)
1995
40
Successful prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (7957400)
1994
41
Ovarian suppression reduces clinical and endocrine expression of late-onset congenital adrenal hyperplasia due to 21-hydroxylase deficiency. (7926082)
1994
42
Prenatal diagnosis and treatment of 21-hydroxylase deficiency. (8481354)
1993
43
de novo mutation causes steroid 21-hydroxylase deficiency in one family of HLA-identical affected and unaffected siblings. (8325964)
1993
44
Adrenal tumor complicating untreated 21-hydroxylase deficiency in a 5 1/2-year-old boy. (8249954)
1993
45
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. (1406699)
1992
46
Prenatal diagnosis of 21-hydroxylase deficiency congenital adrenal hyperplasia using the polymerase chain reaction. (1349559)
1992
47
Prenatal diagnosis of 21-hydroxylase deficiency by RFLP analysis of the 21-hydroxylase, complement C4, and HLA class II genes. (1684434)
1991
48
Prevalence of nonclassical steroid 21-hydroxylase deficiency based on a morning salivary 17-hydroxyprogesterone screening test: a small sample study. (2347899)
1990
49
The functional characteristics of the reproductive system in women who are heterozygous carriers of 21-hydroxylase deficiency]. (2177586)
1990
50
Adult manifestation of congenital adrenal hyperplasia due to incomplete 21-hydroxylase deficiency mimicking polycystic ovarian disease. (6254362)
1980

Variations for 21-Hydroxylase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for 21-Hydroxylase Deficiency:

64 (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

Clinvar genetic disease variations for 21-Hydroxylase Deficiency:

6 (show all 31)
id Gene Name Type Significance SNP ID Assembly Location
1CYP21A2NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn)single nucleotide variantPathogenicrs6475GRCh37Chr 6, 32007203: 32007203
2CYP21A2NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu)single nucleotide variantPathogenicrs6471GRCh37Chr 6, 32007887: 32007887
3CYP21A2NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp)single nucleotide variantPathogenicrs7769409GRCh37Chr 6, 32008312: 32008312
4CYP21A2NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu)single nucleotide variantPathogenicrs9378251GRCh37Chr 6, 32006291: 32006291
5CYP21A2NM_000500.7(CYP21A2): c.293-13C> Gsingle nucleotide variantPathogenicrs6467GRCh37Chr 6, 32006858: 32006858
6CYP21A2NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser)single nucleotide variantPathogenicrs201552310GRCh37Chr 6, 32007917: 32007917
7CYP21A2NM_000500.7(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs)indelPathogenicrs397509367GRCh37Chr 6, 32008874: 32008875
8CYP21A2CYP21A2, -4C-T, PRO105LEU, AND PRO453SERsingle nucleotide variantPathogenic
9CYP21A2NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser)single nucleotide variantPathogenicrs6445GRCh37Chr 6, 32008783: 32008783
10CYP21A2CYP21A2, 30-KB DELdeletionPathogenic
11CYP21A2CYP21A2, GENE CONVERSION CYP21 FROM CYP21Pundetermined variantPathogenic
12CYP21A2NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs)deletionPathogenicrs387906510GRCh37Chr 6, 32006910: 32006917
13CYP21A2CYP21A2, IVS7DS, G-C, +1single nucleotide variantPathogenic
14CYP21A2NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter)single nucleotide variantPathogenicrs7755898GRCh37Chr 6, 32008198: 32008198
15CYP21A2CYP21A2, ARG339HIS AND PRO453SERsingle nucleotide variantPathogenic
16CYP21A2NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter)single nucleotide variantPathogenicrs151344503GRCh37Chr 6, 32008543: 32008543
17CYP21A2CYP21A2, GLU380ASPundetermined variantPathogenic
18CYP21A2CYP21A2, GLY424SERundetermined variantPathogenic
19CYP21A2CYP21A2, ARG426HISundetermined variantPathogenic
20CYP21A2CYP21A2, 1-BP INS, 82CinsertionPathogenic
21CYP21A2CYP21A2, IVS2, A-G, -2single nucleotide variantPathogenic
22CYP21A2CYP21A2, 1-BP INS, 1003AinsertionPathogenic
23CYP21A2CYP21A2, ARG408CYSundetermined variantPathogenic
24CYP21A2CYP21A2, HIS62LEUsingle nucleotide variantPathogenic
25CYP21A2NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln)single nucleotide variantPathogenicrs267606757GRCh37Chr 6, 32006939: 32006939
26CYP21A2NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu)single nucleotide variantPathogenicrs12530380GRCh37Chr 6, 32007587: 32007587
27CYP21A2NM_000500.7(CYP21A2): c.921dupT (p.Leu308Phefs)duplicationPathogenicrs267606756GRCh37Chr 6, 32007963: 32007964
28CYP21A2NM_000500.5: c.293-13A> G(659A> G)undetermined variantPathogenic
29CYP21A2NM_000500.7(CYP21A2): c.844G> C (p.Val282Leu)single nucleotide variantPathogenicrs6471GRCh37Chr 6, 32007887: 32007887
30CYP21A2NM_000500.7(CYP21A2): c.923dupT (p.Leu308Phefs)duplicationPathogenicrs397515532GRCh37Chr 6, 32007966: 32007966
31CYP21A2NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu)single nucleotide variantPathogenicrs12530380GRCh37Chr 6, 32007587: 32007587

Expression for genes affiliated with 21-Hydroxylase Deficiency

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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

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6C4B, C4A
2
Show member pathways
Immune response Alternative complement pathway60
Immune response Lectin Induced complement pathway60
Immune response Classic complement pathway60
9.6C4B, C4A
39.6C4B, C4A
4
Show member pathways
Complement Activation, Classical Pathway37
Complement and Coagulation Cascades37
9.6C4A, C4B
59.5POMC, CYP21A2
6
Show member pathways
9.5POMC, CYP21A2
7
Show member pathways
9.5POMC, CYP21A2

Compounds for genes affiliated with 21-Hydroxylase Deficiency

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

(show all 40)
idCompoundScoreTop Affiliating Genes
1bamhi4410.0C4A, CYP21A2
23beta-hydroxy-delta5-steroid449.9CYP21A2, POMC
3cortrosyn449.9CYP21A2, POMC
421-deoxycortisol44 2410.9POMC, CYP21A2
5nafarelin44 61 28 1112.9CYP21A2, POMC
6cortisol28 2410.9CYP21A2, POMC
7fludrocortisone44 28 1111.8CYP21A2, POMC
817-hydroxypregnenolone449.8POMC, CYP21A2
911 deoxycortisol449.8POMC, CYP21A2
10doca449.8POMC, CYP21A2
11cortisone44 2410.7POMC, CYP21A2
1217-hydroxyprogesterone44 2410.7POMC, CYP21A2
13spironolactone44 61 28 50 1113.7POMC, CYP21A2
14ketoconazole44 28 24 1112.6POMC, CYP21A2
15agarose449.6CYP21A2, C4A, C4B
16corticosterone44 61 2411.5POMC, CYP21A2
17[d-trp8]-gamma-msh619.4MC2R, POMC
18alpha-msh61 2810.4MC2R, POMC
19hs 014619.4MC2R, POMC
20pg 106619.4MC2R, POMC
21shu 911961 4410.4POMC, MC2R
22catecholamine449.2POMC, CYP21A2
23acth 1-24449.1POMC, MC2R, CYP21A2
24aminoglutethimide44 1110.1CYP21A2, MC2R, POMC
25metyrapone44 61 1111.1POMC, MC2R, CYP21A2
2611beta-hydroxysteroid449.1POMC, MC2R, CYP21A2
273beta-hydroxysteroid449.1POMC, MC2R, CYP21A2
28dehydroepiandrosterone sulfate449.1CYP21A2, MC2R, POMC
29dhea449.1POMC, MC2R, CYP21A2
30androstenedione44 2410.1CYP21A2, MC2R, POMC
31hydrocortisone44 2 61 1112.0POMC, MC2R, CYP21A2
32threonine449.0CYP21A2, STK19, C4A, C4B
33acth449.0POMC, MC2R, CYP21A2
34ribonucleic acid448.9CYP21A2, MC2R, POMC
35arginine448.9CYP21A2, POMC, CAPN10, C4A
36forskolin44 50 1110.8CYP21A2, MC2R, POMC
37cholesterol44 28 24 1111.8CAPN10, MC2R, CYP21A2
38testosterone44 61 24 1111.6CYP21A2, MC2R, POMC
39serine448.4CYP21A2, POMC, STK19, C4A, C4B
40steroid448.2CYP21A2, MC2R, POMC, C4A, C4B

GO Terms for genes affiliated with 21-Hydroxylase Deficiency

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

idNameGO IDScoreTop Affiliating Genes
1regulation of complement activationGO:0304499.6C4B, C4A
2complement activationGO:0069569.5C4B, C4A
3complement activation, classical pathwayGO:0069589.3C4B, C4A
4neuropeptide signaling pathwayGO:0072189.0POMC, MC2R

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

idNameGO IDScoreTop Affiliating Genes
1endopeptidase inhibitor activityGO:0048669.6C4B, C4A

Products for genes affiliated with 21-Hydroxylase Deficiency

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  • Antibodies
  • Proteins
  • Lysates

Sources for 21-Hydroxylase Deficiency

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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet