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Aliases for CYP21A2 Gene

Aliases for CYP21A2 Gene

  • Cytochrome P450 Family 21 Subfamily A Member 2 2 3 5
  • Cytochrome P450, Subfamily XXIA (Steroid 21-Hydroxylase, Congenital Adrenal Hyperplasia), Polypeptide 2 2 3
  • Cytochrome P450, Family 21, Subfamily A, Polypeptide 2 2 3
  • Steroid 21-Monooxygenase 2 3
  • Cytochrome P450-C21B 3 4
  • Cytochrome P450 XXI 3 4
  • 21-OHase 3 4
  • CYP21B 3 4
  • CYP21 3 4
  • Steroid 21 Hydroxylase 3
  • Steroid 21-Hydroxylase 3
  • Cytochrome P-450c21 4
  • Cytochrome P450-C21 4
  • Cytochrome P450 21 4
  • EC 58
  • EC 4
  • EC 1.14.99 58
  • P450c21B 3
  • CA21H 3
  • CAH1 3
  • CPS1 3

External Ids for CYP21A2 Gene

Previous HGNC Symbols for CYP21A2 Gene

  • CYP21
  • CYP21B

Previous GeneCards Identifiers for CYP21A2 Gene

  • GC06P032035
  • GC06P031776
  • GC06P032077
  • GC06P032114

Summaries for CYP21A2 Gene

Entrez Gene Summary for CYP21A2 Gene

  • This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneCards Summary for CYP21A2 Gene

CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2) is a Protein Coding gene. Diseases associated with CYP21A2 include Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency and Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency, Simple Virilizing Form. Among its related pathways are Metabolism and Cytochrome P450 - arranged by substrate type. GO annotations related to this gene include iron ion binding and oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen. An important paralog of this gene is CYP17A1.

UniProtKB/Swiss-Prot for CYP21A2 Gene

  • Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).

Gene Wiki entry for CYP21A2 Gene

Additional gene information for CYP21A2 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for CYP21A2 Gene

Genomics for CYP21A2 Gene

Regulatory Elements for CYP21A2 Gene

Enhancers for CYP21A2 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH06H031567 2 FANTOM5 Ensembl ENCODE dbSUPER 5.4 -459.8 -459847 22.2 HDGF PKNOX1 MLX ZFP64 ARID4B SIN3A DMAP1 YBX1 ZNF2 ZBTB7B TNF DDX39B LY6G5B ATF6B LSM2 TCF19 MDC1 DHX16 NFKBIL1 C6orf47
GH06H032254 0.9 ENCODE 5 +217.3 217271 2.2 HDAC1 HDGF TBP RB1 NFXL1 BATF RAD21 RFX5 GATA2 ZNF143 HLA-DRB1 RNF5 HLA-DRB6 HCG23 CYP21A1P PRRT1 SKIV2L CYP21A2 ENSG00000277427 LOC101929163
GH06H032045 1.6 Ensembl ENCODE dbSUPER 0.4 +9.0 8988 3.1 HDGF PKNOX1 ZFP64 ARID4B DMAP1 ZNF2 SLC30A9 ZNF143 FOS MXD4 C4A CYP21A1P TNXA CYP21A2 RNA5SP206
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around CYP21A2 on UCSC Golden Path with GeneCards custom track

Genomic Locations for CYP21A2 Gene

Genomic Locations for CYP21A2 Gene
3,406 bases
Plus strand

Genomic View for CYP21A2 Gene

Genes around CYP21A2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
CYP21A2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for CYP21A2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

Proteins for CYP21A2 Gene

  • Protein details for CYP21A2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Recommended name:
    Steroid 21-hydroxylase
    Protein Accession:
    Secondary Accessions:
    • A2BHY6
    • P04033
    • Q01204
    • Q08AG8
    • Q16749
    • Q16806
    • Q5ST44
    • Q96NU8

    Protein attributes for CYP21A2 Gene

    494 amino acids
    Molecular mass:
    55887 Da
    Name=heme; Xref=ChEBI:CHEBI:30413;
    Quaternary structure:
    No Data Available

    Three dimensional structures from OCA and Proteopedia for CYP21A2 Gene

    Alternative splice isoforms for CYP21A2 Gene


neXtProt entry for CYP21A2 Gene

Selected DME Specific Peptides for CYP21A2 Gene


Post-translational modifications for CYP21A2 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for CYP21A2 Gene

Domains & Families for CYP21A2 Gene

Gene Families for CYP21A2 Gene

Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Plasma proteins
  • Potential drug targets
  • Predicted secreted proteins

Protein Domains for CYP21A2 Gene

Graphical View of Domain Structure for InterPro Entry



  • The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
  • Belongs to the cytochrome P450 family.
  • The leucine-rich hydrophobic amino acid N-terminal region probably helps to anchor the protein to the microsomal membrane.
  • Belongs to the cytochrome P450 family.
genes like me logo Genes that share domains with CYP21A2: view

Function for CYP21A2 Gene

Molecular function for CYP21A2 Gene

GENATLAS Biochemistry:
cytochrome P450,family XXI (steroid 21-hydroxylase A2),microsomal,adrenocortical steroid biosynthesis,included in the YB sequence,in the same orientation
UniProtKB/Swiss-Prot BiophysicochemicalProperties:
Kinetic parameters: KM=1.59 uM for 17-hydroxyprogesterone {ECO:0000269 PubMed:22014889}; KM=12.5 uM for for 17-hydroxyprogesterone (at 37 degrees Celsius) {ECO:0000269 PubMed:27721825}; KM=1.05 uM for progesterone {ECO:0000269 PubMed:22014889}; Vmax=5.8 nmol/min/mg enzyme {ECO:0000269 PubMed:22014889}; Vmax=0.5 nmol/min/mg enzyme (at 37 degrees Celsius) {ECO:0000269 PubMed:27721825};
UniProtKB/Swiss-Prot CatalyticActivity:
A C(21) steroid + [reduced NADPH--hemoprotein reductase] + O(2) = a 21-hydroxy-C(21)-steroid + [oxidized NADPH--hemoprotein reductase] + H(2)O.
UniProtKB/Swiss-Prot Function:
Specifically catalyzes the 21-hydroxylation of steroids. Required for the adrenal synthesis of mineralocorticoids and glucocorticoids (PubMed:22014889).

Enzyme Numbers (IUBMB) for CYP21A2 Gene

Phenotypes From GWAS Catalog for CYP21A2 Gene

Gene Ontology (GO) - Molecular Function for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004509 steroid 21-monooxygenase activity TAS --
GO:0005496 steroid binding IEA --
GO:0005506 iron ion binding IEA --
GO:0008289 lipid binding IEA --
GO:0008395 steroid hydroxylase activity IMP 16984992
genes like me logo Genes that share ontologies with CYP21A2: view
genes like me logo Genes that share phenotypes with CYP21A2: view

Human Phenotype Ontology for CYP21A2 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Model Products

miRNA for CYP21A2 Gene

miRTarBase miRNAs that target CYP21A2

Inhibitory RNA Products

Clone Products

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for CYP21A2 Gene

Localization for CYP21A2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for CYP21A2 Gene

Endoplasmic reticulum membrane; Peripheral membrane protein. Microsome membrane; Peripheral membrane protein.

Subcellular locations from

Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for CYP21A2 gene
Compartment Confidence
endoplasmic reticulum 5
golgi apparatus 3
extracellular 2
mitochondrion 2
nucleus 2
plasma membrane 1

Gene Ontology (GO) - Cellular Components for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005783 endoplasmic reticulum IEA --
GO:0005789 endoplasmic reticulum membrane TAS --
GO:0016020 membrane IEA --
GO:0031090 organelle membrane IEA --
GO:0043231 intracellular membrane-bounded organelle IEA --
genes like me logo Genes that share ontologies with CYP21A2: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for CYP21A2 Gene

Pathways & Interactions for CYP21A2 Gene

genes like me logo Genes that share pathways with CYP21A2: view

Gene Ontology (GO) - Biological Process for CYP21A2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006694 steroid biosynthetic process IDA,IEA 25855791
GO:0006704 glucocorticoid biosynthetic process TAS --
GO:0006705 mineralocorticoid biosynthetic process TAS --
GO:0008202 steroid metabolic process IMP 16984992
GO:0016125 sterol metabolic process TAS --
genes like me logo Genes that share ontologies with CYP21A2: view

No data available for SIGNOR curated interactions for CYP21A2 Gene

Drugs & Compounds for CYP21A2 Gene

(50) Drugs for CYP21A2 Gene - From: DrugBank, ApexBio, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Ketoconazole Approved, Investigational Pharma Pore Blocker, Target Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase 178
Hydrocortisone Approved, Vet_approved Pharma Agonist 685
Oxygen Approved, Vet_approved Pharma 0
Progesterone Approved, Vet_approved Pharma Full agonist, Activator 578
Ifosfamide Approved Pharma Cytostatic agent 400

(50) Additional Compounds for CYP21A2 Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
  • 17-alpha-Hydroxyprogesterone
  • 17-Hydroxypregn-4-ene-3,20-dione
  • 17-Hydroxyprogesterone
  • 17-OH Progesterone
  • 17-OHP
  • 11b,17-Dihydroxy-Pregn-4-ene-3,20-dione
  • 11b,17-Dihydroxy-Progesterone
  • 11b,17a-Dihydroxypregn-4-ene-3,20-dione
  • 11b,17a-Dihydroxyprogesterone
  • 21-Dehydrohydrocortisone
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-b-D-ribofuranosylnicotinamide
  • 2'-(Dihydrogen phosphate) 5'-(trihydrogen pyrophosphate) Adenosine 5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosylnicotinamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-D-ribofuranosyl-3-pyridinecarboxamide
  • Adenosine 5'-(trihydrogen diphosphate) 2'-(dihydrogen phosphate) P'-5'-ester with 1,4-dihydro-1-beta-delta-ribofuranosyl-3-pyridinecarboxamide
  • b-NADPH
  • (11beta)-11-hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxypregn-4-ene-3,20-dione
  • 11-beta-Hydroxyprogesterone
  • 11b-Hydroxyprogesterone
  • 11beta-hydroxypregn-4-ene-3,20-dione
  • 17alpha,21-Dihydroxypreg-nenolone
  • 17alpha,21-Dihydroxypregnenolone

(4) ApexBio Compounds for CYP21A2 Gene

Compound Action Cas Number
Abiraterone acetate Cytochrome p450 17a1 inhibitor 154229-18-2
Avasimibe ACAT inhibitor,orally bioavailable 166518-60-1
Ifosfamide Cytostatic agent 3778-73-2
Ketoconazole Inhibitor of cyclosporine oxidase and testosterone 6 beta-hydroxylase 65277-42-1
genes like me logo Genes that share compounds with CYP21A2: view

Drug Products

Transcripts for CYP21A2 Gene

mRNA/cDNA for CYP21A2 Gene

(2) REFSEQ mRNAs :
(16) Additional mRNA sequences :
(10) Selected AceView cDNA sequences:
(15) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for CYP21A2 Gene

Cytochrome P450, family 21, subfamily A, polypeptide 2:
Representative Sequences:

Inhibitory RNA Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for CYP21A2 Gene

No ASD Table

Relevant External Links for CYP21A2 Gene

GeneLoc Exon Structure for
ECgene alternative splicing isoforms for

Expression for CYP21A2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for CYP21A2 Gene

mRNA differential expression in normal tissues according to GTEx for CYP21A2 Gene

This gene is overexpressed in Adrenal Gland (x49.8).

Protein differential expression in normal tissues from HIPED for CYP21A2 Gene

This gene is overexpressed in Adrenal (68.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, and MOPED for CYP21A2 Gene

Protein tissue co-expression partners for CYP21A2 Gene

- Elite partner

NURSA nuclear receptor signaling pathways regulating expression of CYP21A2 Gene:


SOURCE GeneReport for Unigene cluster for CYP21A2 Gene:


Evidence on tissue expression from TISSUES for CYP21A2 Gene

  • Adrenal gland(4.8)
  • Blood(4.3)

Phenotype-based relationships between genes and organs from Gene ORGANizer for CYP21A2 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
  • cardiovascular
  • endocrine
  • immune
  • integumentary
  • nervous
  • reproductive
  • skeleton
  • urinary
Head and neck:
  • brain
  • ear
  • head
  • breast
  • chest wall
  • heart
  • adrenal gland
  • kidney
  • penis
  • urethra
  • blood
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • skin
  • sweat gland
  • white blood cell
genes like me logo Genes that share expression patterns with CYP21A2: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery and mRNA Expression by UniProt/SwissProt for CYP21A2 Gene

Orthologs for CYP21A2 Gene

This gene was present in the common ancestor of animals.

Orthologs for CYP21A2 Gene

Organism Taxonomy Gene Similarity Type Details
(Pan troglodytes)
Mammalia LOC745345 33
  • 99.39 (n)
CYP21A2 34
  • 99 (a)
(Bos Taurus)
Mammalia CYP21 33
  • 83.87 (n)
-- 34
  • 70 (a)
-- 34
  • 67 (a)
(Canis familiaris)
Mammalia CYP21A2 33
  • 82.71 (n)
CYP21 34
  • 78 (a)
(Mus musculus)
Mammalia Cyp21a1 33 16 34
  • 77.49 (n)
(Rattus norvegicus)
Mammalia Cyp21a1 33
  • 76.73 (n)
(Monodelphis domestica)
Mammalia CYP21A2 34
  • 55 (a)
(Gallus gallus)
Aves CYP21A2 33 34
  • 55.63 (n)
(Anolis carolinensis)
Reptilia CYP21A2 34
  • 43 (a)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100489813 33
  • 52.78 (n)
(Danio rerio)
Actinopterygii LOC793249 33
  • 51.52 (n)
cyp21a2 34
  • 38 (a)
fruit fly
(Drosophila melanogaster)
Insecta spo 34
  • 19 (a)
spok 34
  • 18 (a)
Species where no ortholog for CYP21A2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for CYP21A2 Gene

Gene Tree for CYP21A2 (if available)
Gene Tree for CYP21A2 (if available)

Paralogs for CYP21A2 Gene

Paralogs for CYP21A2 Gene

genes like me logo Genes that share paralogs with CYP21A2: view

Variants for CYP21A2 Gene

Polymorphic Variants from UniProtKB/Swiss-Prot for CYP21A2 Gene

Seven non deleterious alleles are known: CYP21A2*1A, CYP21A2*1B, CYP21A2*2, CYP21A2*3, CYP21A2*4, CYP21A2*5 and CYP21A2*6. The sequence shown corresponds to allele CYP21A2*1B. Deleterious alleles are mostly generated by recombinations between CYP21A2 and the pseudogene CYP21A1P through gene conversion. This process consists of recombination events that either delete CYP21A2 or transfer deleterious mutations from CYP21A1P to CYP21A2.

Sequence variations from dbSNP and Humsavar for CYP21A2 Gene

SNP ID Clin Chr 06 pos Sequence Context AA Info Type
rs111647200 Pathogenic, Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,807(+) CCACA(A/T)CGAGG reference, missense
rs12530380 Pathogenic, Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,810(+) CATCG(A/T)GGAGA reference, missense
rs143240527 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,039,593(+) GTGTT(A/T)AAAAC reference, missense
rs151344504 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,040,926(+) TGCCC(A/G)CGTGT downstream-variant-500B, reference, missense
rs184649564 Adrenal hyperplasia 3 (AH3) [MIM:201910] 32,041,085(+) AGTGC(A/G/T)GCTGC downstream-variant-500B, reference, missense

Structural Variations from Database of Genomic Variants (DGV) for CYP21A2 Gene

Variant ID Type Subtype PubMed ID
nsv981129 CNV duplication 23825009
nsv602100 CNV loss 21841781
nsv602099 CNV gain 21841781
nsv602098 CNV gain 21841781
nsv602095 CNV loss 21841781
nsv602045 CNV gain 21841781
nsv601971 CNV gain 21841781
nsv5248 CNV insertion 18451855
nsv5247 CNV deletion 18451855
nsv433379 CNV gain 18776910
nsv428141 CNV gain+loss 18775914
nsv285 CNV deletion 15895083
nsv1126749 CNV deletion 24896259
nsv1112900 CNV deletion 24896259
nsv10824 CNV gain+loss 18304495
nsv1073969 CNV deletion 25765185
esv3890827 CNV gain+loss 25118596
esv28110 CNV gain+loss 19812545
esv2759415 CNV gain+loss 17122850
esv2731825 CNV deletion 23290073
dgv20n31 CNV gain 19718026
dgv10485n54 CNV gain 21841781
dgv10482n54 CNV loss 21841781
dgv10477n54 CNV loss 21841781
dgv10472n54 CNV loss 21841781
dgv10468n54 CNV loss 21841781
dgv10463n54 CNV loss 21841781
dgv10404n54 CNV loss 21841781
dgv10403n54 CNV loss 21841781

Variation tolerance for CYP21A2 Gene

Residual Variation Intolerance Score: 82.3% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.91; 89.80% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for CYP21A2 Gene

Human Gene Mutation Database (HGMD)
The Human Cytochrome P450 Allele Nomenclature Database
SNPedia medical, phenotypic, and genealogical associations of SNPs for

Disorders for CYP21A2 Gene

MalaCards: The human disease database

(40) MalaCards diseases for CYP21A2 Gene - From: HGMD, OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
  • hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
  • classic 21-ohd cah, simple virilizing form
classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
  • classic 21-ohd cah, salt wasting form
congenital adrenal hyperplasia
  • adrenal hyperplasia 1
  • leuteoma of pregnancy
- elite association - COSMIC cancer census association via MalaCards


  • Adrenal hyperplasia 3 (AH3) [MIM:201910]: A form of congenital adrenal hyperplasia, a common recessive disease due to defective synthesis of cortisol. Congenital adrenal hyperplasia is characterized by androgen excess leading to ambiguous genitalia in affected females, rapid somatic growth during childhood in both sexes with premature closure of the epiphyses and short adult stature. Four clinical types: salt wasting (SW, the most severe type), simple virilizing (SV, less severely affected patients), with normal aldosterone biosynthesis, non-classic form or late-onset (NC or LOAH) and cryptic (asymptomatic). {ECO:0000269 PubMed:10051010, ECO:0000269 PubMed:10094562, ECO:0000269 PubMed:10198222, ECO:0000269 PubMed:10364682, ECO:0000269 PubMed:10391209, ECO:0000269 PubMed:10408778, ECO:0000269 PubMed:10408786, ECO:0000269 PubMed:10443693, ECO:0000269 PubMed:10496074, ECO:0000269 PubMed:10720040, ECO:0000269 PubMed:11232002, ECO:0000269 PubMed:11598371, ECO:0000269 PubMed:11600539, ECO:0000269 PubMed:11746135, ECO:0000269 PubMed:12213891, ECO:0000269 PubMed:12222711, ECO:0000269 PubMed:12788866, ECO:0000269 PubMed:12887291, ECO:0000269 PubMed:12915679, ECO:0000269 PubMed:1406699, ECO:0000269 PubMed:1406709, ECO:0000269 PubMed:14676460, ECO:0000269 PubMed:14715874, ECO:0000269 PubMed:1496017, ECO:0000269 PubMed:15110320, ECO:0000269 PubMed:15126570, ECO:0000269 PubMed:16046588, ECO:0000269 PubMed:1644925, ECO:0000269 PubMed:16984992, ECO:0000269 PubMed:18319307, ECO:0000269 PubMed:18381579, ECO:0000269 PubMed:18445671, ECO:0000269 PubMed:1864962, ECO:0000269 PubMed:1937474, ECO:0000269 PubMed:20080860, ECO:0000269 PubMed:2072928, ECO:0000269 PubMed:21169732, ECO:0000269 PubMed:22014889, ECO:0000269 PubMed:2303461, ECO:0000269 PubMed:27721825, ECO:0000269 PubMed:3038528, ECO:0000269 PubMed:3257825, ECO:0000269 PubMed:3260007, ECO:0000269 PubMed:3267225, ECO:0000269 PubMed:3497399, ECO:0000269 PubMed:3871526, ECO:0000269 PubMed:7749410, ECO:0000269 PubMed:8478006, ECO:0000269 PubMed:8485582, ECO:0000269 PubMed:8989258, ECO:0000269 PubMed:9067760, ECO:0000269 PubMed:9187661, ECO:0000269 PubMed:9497336, ECO:0000269 PubMed:9580109}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genatlas disease for CYP21A2 Gene

adrenal hyperplasia III,female pseudohermaphroditism,with/without salt losing;cryptic non classic and latent forms,hirsutism hyperandrogenic women,virilization with advanced somatic growth,skeletal age and false precocious puberty in male (21-OH deficiency),sometimes with uniparental disomy

Relevant External Links for CYP21A2

Genetic Association Database (GAD)
Human Genome Epidemiology (HuGE) Navigator
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
genes like me logo Genes that share disorders with CYP21A2: view

Publications for CYP21A2 Gene

  1. Phenotype-genotype correlations of 13 rare CYP21A2 mutations detected in 46 patients affected with 21-hydroxylase deficiency and in one carrier. (PMID: 20080860) Tardy V … Morel Y (The Journal of clinical endocrinology and metabolism 2010) 3 4 22 45 60
  2. 21-Hydroxylase and 11beta-hydroxylase mutations in Romanian patients with classic congenital adrenal hyperplasia. (PMID: 16046588) Grigorescu Sido A … Schulze E (The Journal of clinical endocrinology and metabolism 2005) 3 4 22 45 60
  3. Detection and assignment of CYP21 mutations using peptide mass signature genotyping. (PMID: 15110320) Zeng X … Telmer CA (Molecular genetics and metabolism 2004) 3 4 22 45 60
  4. CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. (PMID: 12915679) Stikkelbroeck NM … Sistermans EA (The Journal of clinical endocrinology and metabolism 2003) 3 4 22 45 60
  5. Premature pubarche in Mediterranean girls: high prevalence of heterozygous CYP21 mutation carriers. (PMID: 20059433) Paris F … Sultan C (Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology 2010) 3 22 45 60

Products for CYP21A2 Gene

Sources for CYP21A2 Gene

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