MCID: ADR042
MIFTS: 45

Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency malady

Genetic diseases, Rare diseases, Endocrine diseases categories

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, Aliases & Descriptions:

Name: Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency 45 10
21-Hydroxylase Deficiency 31 63 41 21 60
Hyperandrogenism, Nonclassic Type, Due to 21-Hydroxylase Deficiency 45 63 21
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 31 19 20
Adrenogenital Syndrome 63 43 60
Congenital Adrenal Hyperplasia 63 60
21 Hydroxylase Deficiency 41 22
Adrenal Gland Disorders 63 32
 
Cyp21 Deficiency 41 21
Congenital Adrenal Hyperplasia Due to 21 Hydroxylase Deficiency 21
Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 41
Virilizing Adrenal Hyperplasia 19
Adrenal Gland Diseases 60
Cah, 21-Ohd 19
21-Ohd 19
Cah1 21


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Endocrine diseases


External Ids:

OMIM45 201910
ICD1025 E25, E25.9

Summaries for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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OMIM:45 Congenital adrenal hyperplasia (CAH) results from a deficiency in one or another of the enzymes of cortisol... (201910) more...

MalaCards based summary: Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency, also known as 21-hydroxylase deficiency, is related to congenital adrenal hyperplasia and classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, and has symptoms including autosomal recessive inheritance, hypospadias and renal salt wasting. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency is CYP21A2 (cytochrome P450, family 21, subfamily A, polypeptide 2). The drugs hydrocortisone and hydrocortisone probutate have been mentioned in the context of this disorder. Affiliated tissues include adrenal gland, kidney and cortex.

NIH Rare Diseases:41 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

MedlinePlus:32 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

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.

GeneReviews summary for cah

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Diseases related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 118)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia11.3
2classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency10.8
3infertility10.5
417-alpha-hydroxylase deficiency10.5
5congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency10.5
6non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency10.5
7pseudohypoaldosteronism10.5
8hyperandrogenism10.4
9late-onset congenital adrenal hyperplasia10.4
10lipoid adrenal hyperplasia10.4
11congenital hypothyroidism10.4
12hypothyroidism10.4
13adrenal rest tumor10.4
14antley-bixler syndrome10.4
15congenital adrenal hyperplasia due to apparent combined p450c17 and p450c21 deficiency10.4
1611-beta-hydroxylase-deficient congenital adrenal hyperplasia10.4
1717-alpha-hydroxylase-deficient congenital adrenal hyperplasia10.4
18cholesterol desmolase-deficient congenital adrenal hyperplasia10.4
193-beta-hydroxysteroid dehydrogenase-deficient congenital adrenal hyperplasia10.4
20obesity10.3
21acne10.3
22adenoma10.3
23pseudohermaphroditism10.3
24turner syndrome10.3
25classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form10.3
26classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form10.3
27insulin-like growth factor i10.3
28disordered steroidogenesis due to cytochrome p450 oxidoreductase10.3
29anorexia nervosa10.3
303-beta-hydroxysteroid dehydrogenase, type ii, deficiency10.3
31hepatitis10.3
32amenorrhea10.3
33ehlers-danlos syndrome10.3
34porphyria10.3
35cystic lymphangioma10.3
36lymphangioma10.3
37osteoporosis10.2
38male infertility10.2
39gynecomastia10.2
40ovarian disease10.2
41cytochrome p450 oxidoreductase deficiency10.2
42precocious puberty10.2
43porphyria cutanea tarda10.1
44testicular microlithiasis10.1
45hyperprolactinemia10.1
46saethre-chotzen syndrome10.1
47cystic fibrosis10.1
48phenylketonuria10.1
49apparent mineralocorticoid excess10.1
50galactosialidosis10.1

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:



Diseases related to adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency

Symptoms for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Symptoms by clinical synopsis from OMIM:

201910

Clinical features from OMIM:

201910

HPO human phenotypes related to Adrenal Hyperplasia, Congenital, Due 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 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Genetic tests related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

id Genetic test Affiliating Genes
1 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia20 CYP21A2
2 21-Hydroxylase Deficiency22

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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MalaCards organs/tissues related to Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

31
Adrenal gland, Kidney, Cortex, Skin, Adrenal cortex, Pituitary

Animal Models for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency or affiliated genes

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Publications for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

62 (show all 58)
id Symbol AA change Variation ID 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

Clinvar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency:

6 (show all 31)
id Gene Variation 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 Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency.

Pathways for genes affiliated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Compounds for genes affiliated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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GO Terms for genes affiliated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Products for genes affiliated with Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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Sources for Adrenal Hyperplasia, Congenital, Due to 21-Hydroxylase Deficiency

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet