MCID: CLS040
MIFTS: 34

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Categories: Bone diseases, Endocrine diseases, Metabolic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Summaries for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90794Disease definitionClassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) is the most common form of congenital adrenal hyperplasia (CAH; see this term), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.EpidemiologyThe prevalence is about 1/14,000.Clinical descriptionClassic 21-OHD CAH can be divided into 2 clinical groups: simple-virilizing or salt wasting (see these terms). Clinical signs of classic 21-OHD CAH are observed prenatally or at birth. Girls present with ambiguous genitalia (clitoromegaly, partially fused labia majora with rugae, common urogenital sinus) and the extent of virilization can vary from a nearly male appearance to minimal clitoromegaly. A normal uterus and various degrees of abnormal vaginal development are seen. The external genitalia in boys are normal. Salt wasting forms of CAH lead to symptoms of dehydration and hypotension in the first few weeks of life due to aldosterone deficiency. They can develop failure to thrive, hyponatremia, hyperkalemia, acidosis and hypoglycemia which can be life threatening if not treated immediately. Hyperandrogenia manifests with accelerated growth velocity and accelerated skeletal maturation (leading to short stature in adulthood), advanced bone age, premature pubarche and precocious puberty during childhood, acne and hirsutism, menstrual problems, subfertility, and metabolic disturbances and obesity during adulthood.EtiologyThe disease is caused by a mutation in the CYP21A2 gene located on chromosome 6p21.3 which controls cortisol and aldosterone production.Diagnostic methodsDiagnosis of girls with classic 21-OHD CAH is usually at birth when ambiguous genitalia are present. Fetuses can be diagnosed for CAH prenatally by measuring 17-hydroxy-progesterone (17-OHP) levels found in amniotic fluid. National systematic screening programs in most European countries diagnose cases of CAH at birth.Differential diagnosisDifferential diagnoses include other forms of CAH, polycystic ovary syndrome (PCOS, see these terms) or any diseases with androgen excess.Antenatal diagnosisPrenatal testing is available by either chorionic villus sampling (CVS) during the 10th -12th week of gestation or by amniocentesis during the 15th -18th week by measuring the enzyme activity of 17-OHP.Genetic counselingAs classic 21-OHD CAH follows an autosomal recessive pattern of inheritance, genetic counseling is possible.Management and treatmentPrenatal treatment with dexamethasone can be administered to female fetuses at risk of developing classic CAH. When administered before the 9th week of gestation, it prevents the excessive androgen production responsible for genital ambiguity in females. If diagnosed after birth, vaginoplasty surgery is usually performed on girls in the first year of life. Lifelong hormone replacement therapy is needed to treat adrenal insufficiency and to decrease elevated androgen hormone levels in order to allow for normal growth and puberty. Hydrocortisone is usually given to children as glucocorticoid (GC) replacement therapy (10-15mg/m2/day divided into 2 or 3 doses) and 9alpha-fludrocortisone for mineralocorticoid (MC) replacement. Dosage is monitored and modified during times of stress. There is a risk of developing acute adrenal insufficiency (see this term) and other complications due to chronic hyperandrogenemia. Excessive treatment with GC causes cushingoid features, and excess MC causes hypertension. Regular follow-up by a multidisciplinary team, including pediatric endocrinologists, surgeons, gynecologists, psychologists, is important.PrognosisWith proper treatment patients have a normal life expectancy.Visit the Orphanet disease page for more resources.

MalaCards based summary : Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, also known as classic 21-ohd cah, is related to lipoid congenital adrenal hyperplasia and hyperandrogenism. An important gene associated with Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency is CYP21A2 (Cytochrome P450 Family 21 Subfamily A Member 2), and among its related pathways/superpathways are Peptide hormone metabolism and Corticotropin-releasing hormone signaling pathway. Affiliated tissues include bone, ovary and testes, and related phenotypes are hypotension and short stature

Related Diseases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 lipoid congenital adrenal hyperplasia 31.5 CYP21A2 POMC
2 hyperandrogenism 30.4 CYP21A2 POMC
3 polycystic ovary syndrome 30.1 CYP21A2 LEP
4 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 13.0
5 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 12.7
6 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 12.7
7 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 12.1
8 neurofibromatosis, type ii 10.3
9 acute adrenal insufficiency 10.1 CYP21A2 POMC
10 cytochrome p450 oxidoreductase deficiency 10.1 CYP21A2 POMC
11 testicular leydig cell tumor 10.1 CYP21A2 POMC
12 adrenal cortical hypofunction 10.1 CYP21A2 POMC
13 steroid inherited metabolic disorder 10.1 CYP21A2 POMC
14 adrenal cortical adenoma 10.1 CYP21A2 POMC
15 adenoma 10.1 CYP21A2 POMC
16 pituitary-dependent cushing's disease 10.0 CYP21A2 POMC
17 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 CYP21A2 POMC
18 adrenal rest tumor 10.0 CYP21A2 POMC
19 hypoadrenocorticism, familial 10.0 CYP21A2 POMC
20 cortisone reductase deficiency 10.0 CYP21A2 POMC
21 adrenal adenoma 10.0 CYP21A2 POMC
22 sick building syndrome 10.0 LEP POMC
23 inherited metabolic disorder 10.0 CYP21A2 LEP
24 adrenal carcinoma 10.0 CYP21A2 POMC
25 hypercholesterolemia, autosomal recessive 10.0 LEP POMC
26 pancreas disease 10.0 LEP POMC
27 amenorrhea 9.9 LEP POMC
28 eating disorder 9.9 LEP POMC
29 overnutrition 9.9 LEP POMC
30 glucose metabolism disease 9.9 LEP POMC
31 adrenocortical carcinoma, hereditary 9.9 CYP21A2 POMC
32 acquired metabolic disease 9.9 LEP POMC
33 autism 6 9.9 LEP LEPQTL1
34 obesity-hypoventilation syndrome 9.9 LEP LEPQTL1
35 berardinelli-seip congenital lipodystrophy 9.8 LEP LEPQTL1
36 fetal macrosomia 9.8 LEP LEPQTL1
37 conn's syndrome 9.8 CYP21A2 POMC
38 glucose intolerance 9.7 LEP LEPQTL1
39 hypothyroidism 9.6 LEP POMC
40 anorexia nervosa 9.6 LEP LEPQTL1 POMC
41 prader-willi syndrome 9.5 LEP LEPQTL1 POMC
42 body mass index quantitative trait locus 11 9.3 CYP21A2 LEP LEPQTL1 POMC

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



Diseases related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Symptoms & Phenotypes for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Human phenotypes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

33 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 hypotension 33 hallmark (90%) HP:0002615
2 short stature 33 hallmark (90%) HP:0004322
3 dehydration 33 hallmark (90%) HP:0001944
4 vomiting 33 hallmark (90%) HP:0002013
5 osteoporosis 33 hallmark (90%) HP:0000939
6 feeding difficulties 33 hallmark (90%) HP:0011968
7 hyponatremia 33 hallmark (90%) HP:0002902
8 enlarged polycystic ovaries 33 hallmark (90%) HP:0008675
9 neonatal hypoglycemia 33 hallmark (90%) HP:0001998
10 increased circulating renin level 33 hallmark (90%) HP:0000848
11 acidosis 33 hallmark (90%) HP:0001941
12 hyperkalemia 33 hallmark (90%) HP:0002153
13 decreased circulating aldosterone level 33 hallmark (90%) HP:0004319
14 increased circulating acth level 33 hallmark (90%) HP:0003154
15 hypernatriuria 33 hallmark (90%) HP:0012605
16 decreased circulating cortisol level 33 hallmark (90%) HP:0008163
17 elevated circulating follicle stimulating hormone level 33 hallmark (90%) HP:0008232
18 hypovolemia 33 hallmark (90%) HP:0011106
19 elevated circulating luteinizing hormone level 33 hallmark (90%) HP:0011969
20 premature adrenarche 33 hallmark (90%) HP:0012412
21 hirsutism 33 hallmark (90%) HP:0001007
22 menstrual irregularities 33 hallmark (90%) HP:0000858
23 increased circulating androgen level 33 hallmark (90%) HP:0030348
24 accelerated bone age after puberty 33 hallmark (90%) HP:0002805
25 adrenogenital syndrome 33 hallmark (90%) HP:0000840
26 congenital adrenal hyperplasia 33 hallmark (90%) HP:0008258
27 abnormality of hair growth rate 33 hallmark (90%) HP:0011363
28 obesity 33 frequent (33%) HP:0001513
29 hypertension 33 frequent (33%) HP:0000822
30 acne 33 frequent (33%) HP:0001061
31 long penis 33 frequent (33%) HP:0000040
32 generalized hyperpigmentation 33 frequent (33%) HP:0007440
33 abnormal spermatogenesis 33 frequent (33%) HP:0008669
34 urogenital sinus anomaly 33 frequent (33%) HP:0100779
35 adrenocorticotropic hormone excess 33 frequent (33%) HP:0011749
36 decreased fertility in females 33 frequent (33%) HP:0000868
37 decreased fertility in males 33 frequent (33%) HP:0012041
38 abnormality of circulating leptin level 33 frequent (33%) HP:0004361
39 ambiguous genitalia, female 33 frequent (33%) HP:0000061
40 abnormal scrotal rugation 33 frequent (33%) HP:0012856
41 fused labia minora 33 frequent (33%) HP:0000063
42 clitoral hypertrophy 33 frequent (33%) HP:0008665
43 hyperpigmented genitalia 33 frequent (33%) HP:0030258
44 abnormal oral glucose tolerance 33 frequent (33%) HP:0004924
45 female sexual dysfunction 33 frequent (33%) HP:0030014
46 aortic root aneurysm 33 frequent (33%) HP:0002616
47 intellectual disability 33 occasional (7.5%) HP:0001249
48 failure to thrive 33 occasional (7.5%) HP:0001508
49 aggressive behavior 33 occasional (7.5%) HP:0000718
50 adrenocortical adenoma 33 occasional (7.5%) HP:0008256

GenomeRNAi Phenotypes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-101 9.32 POMC
2 Increased shRNA abundance (Z-score > 2) GR00366-A-102 9.32 POMC
3 Increased shRNA abundance (Z-score > 2) GR00366-A-113 9.32 LEP
4 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.32 LEP POMC
5 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.32 LEP
6 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.32 POMC
7 Increased shRNA abundance (Z-score > 2) GR00366-A-32 9.32 POMC
8 Increased shRNA abundance (Z-score > 2) GR00366-A-88 9.32 POMC
9 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.32 POMC

Drugs & Therapeutics for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Search Clinical Trials , NIH Clinical Center for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Genetic Tests for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

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

# Genetic test Affiliating Genes
1 Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 30 CYP21A2

Anatomical Context for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

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

42
Bone, Ovary, Testes, Uterus, Adrenal Gland, Pituitary, Pancreas

Publications for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Articles related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

(show top 50) (show all 59)
# Title Authors Year
1
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 30812049 )
2019
2
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2018
3
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. ( 30056407 )
2018
4
Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women. ( 28582566 )
2017
5
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia. ( 25986269 )
2015
6
Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria. ( 26090996 )
2015
7
Blood pressure, fludrocortisone dose and plasma renin activity in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency followed from birth to 4 years of age. ( 24818525 )
2014
8
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
9
Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 22123283 )
2011
10
Alterations in lipid and carbohydrate metabolism in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 20395657 )
2010
11
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction. ( 18445671 )
2008
12
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience. ( 18493149 )
2008
13
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. ( 18319307 )
2008
14
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. ( 18345402 )
2008
15
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. ( 18381579 )
2008
16
Cardiovascular risk factors and ultrasound evaluation of intima-media thickness at common carotids, carotid bulbs, and femoral and abdominal aorta arteries in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 17200174 )
2007
17
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 18174719 )
2007
18
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16396852 )
2006
19
Absence of exercise-induced leptin suppression associated with insufficient epinephrine reserve in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16636975 )
2006
20
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. ( 15623806 )
2005
21
Mutation of IVS2 -12A/C>G in combination with 707-714delGAGACTAC in the CYP21 gene is caused by deletion of the C4-CYP21 repeat module with steroid 21-hydroxylase deficiency. ( 12788880 )
2003
22
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. ( 12915679 )
2003
23
Gene conversion (655G splicing mutation) and the founder effect (Gln318Stop) contribute to the most frequent severe point mutations in congenital adrenal hyperplasia (21-hydroxylase deficiency) in the Spanish population. ( 12220458 )
2002
24
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. ( 12213891 )
2002
25
H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency. ( 11739456 )
2001
26
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. ( 11600539 )
2001
27
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. ( 11093272 )
2000
28
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 10084573 )
1999
29
Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency. ( 10229037 )
1999
30
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. ( 10443693 )
1999
31
Steroid 21-hydroxylase mutations and 21-hydroxylase messenger ribonucleic acid expression in human adrenocortical tumors. ( 9661649 )
1998
32
E380D: a novel point mutation of CYP21 in an HLA-homozygous patient with salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 9067760 )
1997
33
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency. ( 8989258 )
1997
34
Molecular basis of nonclassical steroid 21-hydroxylase deficiency detected by neonatal mass screening in Japan. ( 9215318 )
1997
35
Identification of non-amplifying CYP21 genes when using PCR-based diagnosis of 21-hydroxylase deficiency in congenital adrenal hyperplasia (CAH) affected pedigrees. ( 8968761 )
1996
36
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency. ( 8731325 )
1996
37
Steroid 21-hydroxylase deficiency: genotype may not predict phenotype. ( 7629224 )
1995
38
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population. ( 7635470 )
1995
39
Mutations in steroid 21-hydroxylase (CYP21). ( 8081391 )
1994
40
Mutational spectrum of the steroid 21-hydroxylase gene in Sweden: implications for genetic diagnosis and association with disease manifestation. ( 8175971 )
1994
41
Steroid 21-hydroxylase deficiency: two additional mutations in salt-wasting disease and rapid screening of disease-causing mutations. ( 8518786 )
1993
42
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 1644925 )
1992
43
Pro-453 to Ser mutation in CYP21 is associated with nonclassic steroid 21-hydroxylase deficiency. ( 1406699 )
1992
44
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions. ( 1406709 )
1992
45
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations. ( 1496017 )
1992
46
Substitution of Ile-172 to Asn in the steroid 21-hydroxylase B (P450c21B) gene in a Finnish patient with the simple virilizing form of congenital adrenal hyperplasia. ( 1937474 )
1991
47
Distribution of deletions and seven point mutations on CYP21B genes in three clinical forms of steroid 21-hydroxylase deficiency. ( 1985465 )
1991
48
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency. ( 2303461 )
1990
49
Direct analysis of CYP21B genes in 21-hydroxylase deficiency using polymerase chain reaction amplification. ( 2325662 )
1990
50
Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus. ( 2249999 )
1990

Variations for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

ClinVar genetic disease variations for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

6 (show top 50) (show all 88)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh37 Chromosome 6, 32007203: 32007203
2 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh38 Chromosome 6, 32039426: 32039426
3 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
4 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh38 Chromosome 6, 32040110: 32040110
5 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh37 Chromosome 6, 32008312: 32008312
6 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh38 Chromosome 6, 32040535: 32040535
7 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh37 Chromosome 6, 32006291: 32006291
8 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh38 Chromosome 6, 32038514: 32038514
9 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh37 Chromosome 6, 32007849: 32007849
10 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh38 Chromosome 6, 32040072: 32040072
11 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh37 Chromosome 6, 32006858: 32006858
12 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh38 Chromosome 6, 32039081: 32039081
13 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh37 Chromosome 6, 32007917: 32007917
14 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh38 Chromosome 6, 32040140: 32040140
15 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh37 Chromosome 6, 32008874: 32008875
16 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh38 Chromosome 6, 32041097: 32041098
17 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER single nucleotide variant Pathogenic
18 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh37 Chromosome 6, 32008783: 32008783
19 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh38 Chromosome 6, 32041006: 32041006
20 CYP21A2 CYP21A2, 30-KB DEL deletion Pathogenic
21 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P undetermined variant Pathogenic
22 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh37 Chromosome 6, 32006227: 32006229
23 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh38 Chromosome 6, 32038450: 32038452
24 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh37 Chromosome 6, 32006910: 32006917
25 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh38 Chromosome 6, 32039133: 32039140
26 CYP21A2 CYP21A2, IVS7DS, G-C, +1 single nucleotide variant Pathogenic
27 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh37 Chromosome 6, 32008198: 32008198
28 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh38 Chromosome 6, 32040421: 32040421
29 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER single nucleotide variant Pathogenic
30 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh37 Chromosome 6, 32008543: 32008543
31 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh38 Chromosome 6, 32040766: 32040766
32 CYP21A2 CYP21A2, GLU380ASP undetermined variant Pathogenic
33 CYP21A2 NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu) single nucleotide variant no interpretation for the single variant rs12530380 GRCh37 Chromosome 6, 32007587: 32007587
34 CYP21A2 NM_000500.7(CYP21A2): c.713T> A (p.Val238Glu) single nucleotide variant no interpretation for the single variant rs12530380 GRCh38 Chromosome 6, 32039810: 32039810
35 CYP21A2 CYP21A2, GLY424SER undetermined variant Pathogenic
36 CYP21A2 CYP21A2, ARG426HIS undetermined variant Pathogenic
37 CYP21A2 CYP21A2, 1-BP INS, 82C insertion Pathogenic
38 CYP21A2 CYP21A2, IVS2, A-G, -2 single nucleotide variant Pathogenic
39 CYP21A2 CYP21A2, 1-BP INS, 1003A insertion Pathogenic
40 CYP21A2 CYP21A2, ARG408CYS undetermined variant Pathogenic
41 CYP21A2 NM_000500.7(CYP21A2): c.188A> T (p.His63Leu) single nucleotide variant Benign rs9378252 GRCh38 Chromosome 6, 32038610: 32038610
42 CYP21A2 NM_000500.7(CYP21A2): c.188A> T (p.His63Leu) single nucleotide variant Benign rs9378252 GRCh37 Chromosome 6, 32006387: 32006387
43 CYP21A2 NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln) single nucleotide variant Pathogenic rs267606757 GRCh37 Chromosome 6, 32006939: 32006939
44 CYP21A2 NM_000500.7(CYP21A2): c.361A> C (p.Lys121Gln) single nucleotide variant Pathogenic rs267606757 GRCh38 Chromosome 6, 32039162: 32039162
45 CYP21A2 NM_000500.7(CYP21A2): c.710T> A (p.Ile237Asn) single nucleotide variant no interpretation for the single variant rs1554299737 GRCh37 Chromosome 6, 32007584: 32007584
46 CYP21A2 NM_000500.7(CYP21A2): c.710T> A (p.Ile237Asn) single nucleotide variant no interpretation for the single variant rs1554299737 GRCh38 Chromosome 6, 32039807: 32039807
47 CYP21A2 NM_000500.7(CYP21A2): c.719T> A (p.Met240Lys) single nucleotide variant no interpretation for the single variant rs6476 GRCh37 Chromosome 6, 32007593: 32007593
48 CYP21A2 NM_000500.7(CYP21A2): c.719T> A (p.Met240Lys) single nucleotide variant no interpretation for the single variant rs6476 GRCh38 Chromosome 6, 32039816: 32039816
49 CYP21A2 NM_000500.9(CYP21A2): c.1482C> T (p.Ser494=) single nucleotide variant Benign rs397515529 GRCh37 Chromosome 6, 32008905: 32008905
50 CYP21A2 NM_000500.9(CYP21A2): c.1482C> T (p.Ser494=) single nucleotide variant Benign rs397515529 GRCh38 Chromosome 6, 32041128: 32041128

Expression for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

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

Pathways for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

GO Terms for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

Biological processes related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 glucose homeostasis GO:0042593 8.96 LEP POMC
2 regulation of blood pressure GO:0008217 8.62 LEP POMC

Molecular functions related to Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 LEP POMC

Sources for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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