MCID: CLS040
MIFTS: 38

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 41)
# 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 12.0
8 acute adrenal insufficiency 10.1 CYP21A2 POMC
9 cytochrome p450 oxidoreductase deficiency 10.1 CYP21A2 POMC
10 testicular leydig cell tumor 10.1 CYP21A2 POMC
11 adrenal cortical hypofunction 10.1 CYP21A2 POMC
12 steroid inherited metabolic disorder 10.1 CYP21A2 POMC
13 adrenal cortical adenoma 10.1 CYP21A2 POMC
14 adenoma 10.1 CYP21A2 POMC
15 pituitary-dependent cushing's disease 10.0 CYP21A2 POMC
16 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.0 CYP21A2 POMC
17 adrenal rest tumor 10.0 CYP21A2 POMC
18 hypoadrenocorticism, familial 10.0 CYP21A2 POMC
19 cortisone reductase deficiency 10.0 CYP21A2 POMC
20 adrenal adenoma 10.0 CYP21A2 POMC
21 sick building syndrome 10.0 LEP POMC
22 inherited metabolic disorder 10.0 CYP21A2 LEP
23 adrenal carcinoma 10.0 CYP21A2 POMC
24 hypercholesterolemia, autosomal recessive 10.0 LEP POMC
25 pancreas disease 10.0 LEP POMC
26 amenorrhea 9.9 LEP POMC
27 eating disorder 9.9 LEP POMC
28 overnutrition 9.9 LEP POMC
29 glucose metabolism disease 9.9 LEP POMC
30 adrenocortical carcinoma, hereditary 9.9 CYP21A2 POMC
31 acquired metabolic disease 9.9 LEP POMC
32 autism 6 9.9 LEP LEPQTL1
33 obesity-hypoventilation syndrome 9.8 LEP LEPQTL1
34 berardinelli-seip congenital lipodystrophy 9.8 LEP LEPQTL1
35 fetal macrosomia 9.8 LEP LEPQTL1
36 conn's syndrome 9.8 CYP21A2 POMC
37 glucose intolerance 9.7 LEP LEPQTL1
38 hypothyroidism 9.6 LEP POMC
39 anorexia nervosa 9.5 LEP LEPQTL1 POMC
40 prader-willi syndrome 9.5 LEP LEPQTL1 POMC
41 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 hypovolemia 33 hallmark (90%) HP:0011106
18 premature adrenarche 33 hallmark (90%) HP:0012412
19 hirsutism 33 hallmark (90%) HP:0001007
20 menstrual irregularities 33 hallmark (90%) HP:0000858
21 increased circulating androgen level 33 hallmark (90%) HP:0030348
22 accelerated bone age after puberty 33 hallmark (90%) HP:0002805
23 adrenogenital syndrome 33 hallmark (90%) HP:0000840
24 congenital adrenal hyperplasia 33 hallmark (90%) HP:0008258
25 abnormality of hair growth rate 33 hallmark (90%) HP:0011363
26 elevated circulating follicle stimulating hormone level 33 hallmark (90%) HP:0008232
27 elevated circulating luteinizing hormone level 33 hallmark (90%) HP:0011969
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

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

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

(show all 17)
# Title Authors Year
1
Review of Health Problems in Adult Patients with Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency. ( 30812049 )
2019
2
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency - the next disease included in the neonatal screening program in Poland. ( 30056407 )
2018
3
The prevalence of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency in Russian women with hyperandrogenism. ( 28669219 )
2017
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
Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase-Deficiency: 13 Years of Neonatal Screening and Follow-up in Bavaria. ( 26090996 )
2015
6
Non-Classic Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency that Developed into Symptomatic Severe Hyponatremia. ( 25986269 )
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 4A 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
Patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency can achieve their target height: the Leipzig experience. ( 18493149 )
2008
12
[Comparative study of prednisolone versus hydrocortisone acetate for treatment of patients with the classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency]. ( 18345402 )
2008
13
Growth in patients with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 18174719 )
2007
14
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
15
Obesity among children and adolescents with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 16396852 )
2006
16
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
17
Normal female infants born of mothers with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. ( 10084573 )
1999

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 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP21A2 NM_000500.9(CYP21A2): c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) indel Pathogenic rs786204728 GRCh38 Chromosome 6, 32039807: 32039816
2 CYP21A2 NM_000500.9(CYP21A2): c.710_719delTCGTGGAGATinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) indel Pathogenic rs786204728 GRCh37 Chromosome 6, 32007584: 32007593
3 CYP21A2 NM_000500.7: c.*28697972C> G single nucleotide variant Pathogenic
4 CYP21A2 NM_000500.7: c.*28698317T> A single nucleotide variant Pathogenic
5 CYP21A2 NM_000500.7: c.*28699001G> T single nucleotide variant Pathogenic
6 CYP21A2 NM_000500.7: c.*28697405C> T single nucleotide variant Pathogenic
7 CYP21A2 NM_000500.7: c.*28699312C> T single nucleotide variant Pathogenic
8 CYP21A2 NM_000500.7: c.*28699426C> T single nucleotide variant Pathogenic
9 CYP21A2 NM_000500.7: c.*28699080dupT duplication Likely pathogenic
10 CYP21A2 NM_000500.7: c.*28698024_*28698031del8 deletion Pathogenic
11 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh37 Chromosome 6, 32007203: 32007203
12 CYP21A2 NM_000500.7(CYP21A2): c.518T> A (p.Ile173Asn) single nucleotide variant Pathogenic rs6475 GRCh38 Chromosome 6, 32039426: 32039426
13 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh37 Chromosome 6, 32007887: 32007887
14 CYP21A2 NM_000500.7(CYP21A2): c.844G> T (p.Val282Leu) single nucleotide variant Pathogenic rs6471 GRCh38 Chromosome 6, 32040110: 32040110
15 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh37 Chromosome 6, 32008312: 32008312
16 CYP21A2 NM_000500.7(CYP21A2): c.1069C> T (p.Arg357Trp) single nucleotide variant Pathogenic rs7769409 GRCh38 Chromosome 6, 32040535: 32040535
17 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh37 Chromosome 6, 32006291: 32006291
18 CYP21A2 NM_000500.7(CYP21A2): c.92C> T (p.Pro31Leu) single nucleotide variant Pathogenic rs9378251 GRCh38 Chromosome 6, 32038514: 32038514
19 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh37 Chromosome 6, 32007849: 32007849
20 CYP21A2; LOC106780800; TNXB NM_000500.7(CYP21A2): c.806G> C (p.Ser269Thr) single nucleotide variant Benign rs6472 GRCh38 Chromosome 6, 32040072: 32040072
21 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh37 Chromosome 6, 32006858: 32006858
22 CYP21A2 NM_000500.7(CYP21A2): c.293-13C> G single nucleotide variant Pathogenic rs6467 GRCh38 Chromosome 6, 32039081: 32039081
23 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh37 Chromosome 6, 32007917: 32007917
24 CYP21A2 NM_000500.7(CYP21A2): c.874G> A (p.Gly292Ser) single nucleotide variant Pathogenic rs201552310 GRCh38 Chromosome 6, 32040140: 32040140
25 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh37 Chromosome 6, 32008874: 32008875
26 CYP21A2 NM_000500.9(CYP21A2): c.1451_1452delGGinsC (p.Arg484Profs) indel Pathogenic rs397509367 GRCh38 Chromosome 6, 32041097: 32041098
27 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER single nucleotide variant Pathogenic
28 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh37 Chromosome 6, 32008783: 32008783
29 CYP21A2 NM_000500.7(CYP21A2): c.1360C> T (p.Pro454Ser) single nucleotide variant Pathogenic rs6445 GRCh38 Chromosome 6, 32041006: 32041006
30 CYP21A2 CYP21A2, 30-KB DEL deletion Pathogenic
31 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P undetermined variant Pathogenic
32 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh37 Chromosome 6, 32006227: 32006229
33 CYP21A2 NM_000500.9(CYP21A2): c.25_27dup (p.Leu10_Pro11insLeu) duplication Benign rs61338903 GRCh38 Chromosome 6, 32038450: 32038452
34 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh37 Chromosome 6, 32006910: 32006917
35 CYP21A2 NM_000500.7(CYP21A2): c.332_339delGAGACTAC (p.Gly111Valfs) deletion Pathogenic rs387906510 GRCh38 Chromosome 6, 32039133: 32039140
36 CYP21A2 CYP21A2, IVS7DS, G-C, +1 single nucleotide variant Pathogenic
37 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh37 Chromosome 6, 32008198: 32008198
38 CYP21A2 NM_000500.7(CYP21A2): c.955C> T (p.Gln319Ter) single nucleotide variant Pathogenic rs7755898 GRCh38 Chromosome 6, 32040421: 32040421
39 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER single nucleotide variant Pathogenic
40 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh37 Chromosome 6, 32008543: 32008543
41 CYP21A2 NM_000500.7(CYP21A2): c.1217G> A (p.Trp406Ter) single nucleotide variant Pathogenic rs151344503 GRCh38 Chromosome 6, 32040766: 32040766
42 CYP21A2 CYP21A2, GLU380ASP undetermined variant Pathogenic
43 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
44 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
45 CYP21A2 CYP21A2, GLY424SER undetermined variant Pathogenic
46 CYP21A2 CYP21A2, ARG426HIS undetermined variant Pathogenic
47 CYP21A2 CYP21A2, 1-BP INS, 82C insertion Pathogenic
48 CYP21A2 CYP21A2, IVS2, A-G, -2 single nucleotide variant Pathogenic
49 CYP21A2 CYP21A2, 1-BP INS, 1003A insertion Pathogenic
50 CYP21A2 CYP21A2, ARG408CYS undetermined variant Pathogenic

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

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