MCID: CLS040
MIFTS: 39

Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Categories: Endocrine diseases, Rare diseases

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

MalaCards integrated aliases for Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency:

Name: Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency 20 29 6
Classic 21-Ohd Cah 20

Classifications:



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

GARD : 20 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency (classic 21-OHD CAH) affects the adrenal glands which are responsible for producing specific hormones. There are two types of classic 21-OHD CAH, the salt-wasting form and the simple-virilizing form. Symptoms include abnormal development of the external sex organs in females ( ambiguous genitalia ), early puberty, and short stature. The salt-wasting form also may include the inability to retain salt and water. This can lead to dehydration, low blood pressure, and a life-threatening adrenal crisis. Classic 21-OHD CAH is caused by a genetic pathogenic variant in the CYP21A2 gene and is inherited in an autosomal recessive pattern. Diagnosis is based on the symptoms, blood hormone testing and may be confirmed by the results of genetic testing. Classic 21-OHD CAH can be diagnosed through a newborn screen. Treatment can prevent the more severe symptoms and may involve hormone replacement. in addition, some girls with abnormal genitalia may be offered surgery.

MalaCards based summary : Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency, also known as classic 21-ohd cah, is related to adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 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 Metabolism of steroid hormones and Adipocytokine signaling pathway. Affiliated tissues include adrenal gland, bone and cortex, 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 top 50) (show all 69)
# Related Disease Score Top Affiliating Genes
1 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 32.2 TNXB LOC110631417 LOC106780800 CYP21A2
2 hyperandrogenism 30.7 POMC CYP21A2
3 lipoid congenital adrenal hyperplasia 30.6 POR POMC LOC110631417 LOC106780800 CYP21A2
4 familial glucocorticoid deficiency 30.4 POR POMC CYP21A2
5 body mass index quantitative trait locus 11 29.7 POMC LEPQTL1 LEP CYP21A2
6 non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 12.0
7 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 11.8
8 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 11.8
9 premature ovarian failure 7 10.5
10 autosomal recessive disease 10.4
11 urinary tract infection 10.4
12 polycystic ovary syndrome 10.4
13 acute cystitis 10.4
14 gastroenteritis 10.4
15 quadricuspid aortic valve 10.2 TNXB CYP21A2
16 persistent mullerian duct syndrome 10.2 POR CYP21A2
17 acute adrenal insufficiency 10.1 POMC CYP21A2
18 waterhouse-friderichsen syndrome 10.1 POMC CYP21A2
19 adrenal rest tumor 10.1 POMC CYP21A2
20 corticosterone methyloxidase type i deficiency 10.1 POMC CYP21A2
21 adrenal cortical hypofunction 10.1 POMC CYP21A2
22 sebaceous gland disease 10.1 POMC CYP21A2
23 precocious puberty, male-limited 10.1 POMC CYP21A2
24 adrenal cortex disease 10.1 POMC CYP21A2
25 adrenal cortical adenoma 10.1 POMC CYP21A2
26 hypoadrenocorticism, familial 10.1 POMC CYP21A2
27 adrenal gland disease 10.0 POMC CYP21A2
28 adrenal adenoma 10.0 POMC CYP21A2
29 anovulation 10.0 LEP CYP21A2
30 syndromic obesity 10.0 POMC LEP
31 sick building syndrome 10.0 POMC LEP
32 atypical depressive disorder 10.0 POMC LEP
33 glucocorticoid deficiency 1 10.0 POMC LEP
34 diencephalic neoplasm 10.0 POMC LEP
35 intracranial hypertension, idiopathic 10.0 POMC LEP
36 persistent fetal circulation syndrome 9.9 POMC LEP
37 adult syndrome 9.9 POMC LEP
38 hypercholesterolemia, familial, 4 9.9 POMC LEP
39 cytochrome p450 oxidoreductase deficiency 9.9 POR POMC CYP21A2
40 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 9.9 POR POMC CYP21A2
41 46,xy sex reversal 9.9 POR POMC CYP21A2
42 cortisone reductase deficiency 9.9 POR POMC CYP21A2
43 antley-bixler syndrome 9.9 POR POMC CYP21A2
44 aromatase excess syndrome 9.9 POMC LEP
45 pseudohermaphroditism 9.8 POMC CYP21A2
46 fibromyalgia 9.8 POMC LEP
47 premature menopause 9.8 POR POMC CYP21A2
48 autism 6 9.8 LEPQTL1 LEP
49 genetic obesity 9.8 LEPQTL1 LEP
50 obesity-hypoventilation syndrome 9.8 LEPQTL1 LEP

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:

31 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 hypotension 31 hallmark (90%) HP:0002615
2 short stature 31 hallmark (90%) HP:0004322
3 dehydration 31 hallmark (90%) HP:0001944
4 vomiting 31 hallmark (90%) HP:0002013
5 osteoporosis 31 hallmark (90%) HP:0000939
6 hyponatremia 31 hallmark (90%) HP:0002902
7 hyperkalemia 31 hallmark (90%) HP:0002153
8 enlarged polycystic ovaries 31 hallmark (90%) HP:0008675
9 neonatal hypoglycemia 31 hallmark (90%) HP:0001998
10 feeding difficulties 31 hallmark (90%) HP:0011968
11 premature adrenarche 31 hallmark (90%) HP:0012412
12 hirsutism 31 hallmark (90%) HP:0001007
13 irregular menstruation 31 hallmark (90%) HP:0000858
14 decreased circulating aldosterone level 31 hallmark (90%) HP:0004319
15 elevated circulating follicle stimulating hormone level 31 hallmark (90%) HP:0008232
16 elevated circulating luteinizing hormone level 31 hallmark (90%) HP:0011969
17 hypovolemia 31 hallmark (90%) HP:0011106
18 congenital adrenal hyperplasia 31 hallmark (90%) HP:0008258
19 increased circulating acth level 31 hallmark (90%) HP:0003154
20 decreased circulating cortisol level 31 hallmark (90%) HP:0008163
21 accelerated bone age after puberty 31 hallmark (90%) HP:0002805
22 adrenogenital syndrome 31 hallmark (90%) HP:0000840
23 hypernatriuria 31 hallmark (90%) HP:0012605
24 abnormality of hair growth rate 31 hallmark (90%) HP:0011363
25 increased circulating androgen level 31 hallmark (90%) HP:0030348
26 increased circulating renin level 31 hallmark (90%) HP:0000848
27 acidosis 31 hallmark (90%) HP:0001941
28 hypertension 31 frequent (33%) HP:0000822
29 acne 31 frequent (33%) HP:0001061
30 obesity 31 frequent (33%) HP:0001513
31 generalized hyperpigmentation 31 frequent (33%) HP:0007440
32 urogenital sinus anomaly 31 frequent (33%) HP:0100779
33 long penis 31 frequent (33%) HP:0000040
34 aortic root aneurysm 31 frequent (33%) HP:0002616
35 decreased fertility in males 31 frequent (33%) HP:0012041
36 abnormal scrotal rugation 31 frequent (33%) HP:0012856
37 clitoral hypertrophy 31 frequent (33%) HP:0008665
38 decreased fertility in females 31 frequent (33%) HP:0000868
39 ambiguous genitalia, female 31 frequent (33%) HP:0000061
40 abnormal spermatogenesis 31 frequent (33%) HP:0008669
41 fused labia minora 31 frequent (33%) HP:0000063
42 hyperpigmented genitalia 31 frequent (33%) HP:0030258
43 adrenocorticotropic hormone excess 31 frequent (33%) HP:0011749
44 female sexual dysfunction 31 frequent (33%) HP:0030014
45 abnormality of circulating leptin level 31 frequent (33%) HP:0004361
46 abnormal oral glucose tolerance 31 frequent (33%) HP:0004924
47 intellectual disability 31 occasional (7.5%) HP:0001249
48 failure to thrive 31 occasional (7.5%) HP:0001508
49 gynecomastia 31 occasional (7.5%) HP:0000771
50 insulin resistance 31 occasional (7.5%) HP:0000855

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 29

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:

40
Adrenal Gland, Bone, Cortex, Thyroid, Ovary, Adrenal Cortex

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 108)
# Title Authors PMID Year
1
CYP21A2 mutation analysis in Korean patients with congenital adrenal hyperplasia using complementary methods: sequencing after long-range PCR and restriction fragment length polymorphism analysis with multiple ligation-dependent probe amplification assay. 6
26206692 2015
2
Misregulation effect of a novel allelic variant in the Z promoter region found in cis with the CYP21A2 p.P482S mutation: implications for 21-hydroxylase deficiency. 6
26184415 2015
3
Genetic defects of the CYP21A2 gene in girls with premature adrenarche. 6
25481255 2015
4
The spectrum of clinical, hormonal and molecular findings in 280 individuals with nonclassical congenital adrenal hyperplasia caused by mutations of the CYP21A2 gene. 6
25041270 2015
5
In vitro functional studies of rare CYP21A2 mutations and establishment of an activity gradient for nonclassic mutations improve phenotype predictions in congenital adrenal hyperplasia. 6
24953648 2015
6
A CYP21A2 gene mutation in patients with congenital adrenal hyperplasia. Molecular genetics report from Saudi Arabia. 6
25630015 2015
7
The frequency and the effects of 21-hydroxylase gene defects in congenital adrenal hyperplasia patients. 6
25227725 2014
8
131I-noriodocholesterol uptake by testicular adrenal rest tumors in a patient with classical 21-hydroxylase deficiency. 6
25121463 2014
9
Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations. 6
25538881 2014
10
Functional studies of p.R132C, p.R149C, p.M283V, p.E431K, and a novel c.652-2A>G mutations of the CYP21A2 gene. 6
24667412 2014
11
Functional studies of novel CYP21A2 mutations detected in Norwegian patients with congenital adrenal hyperplasia. 6
24671123 2014
12
A 68-year-old phenotypically male patient with 21-hydroxylase deficiency and concomitant adrenocortical neoplasm producing testosterone and cortisol. 6
24077358 2013
13
A case with combined rare inborn metabolic disorders: congenital adrenal hyperplasia and ornithine transcarbamylase deficiency. 6
23769969 2013
14
Genotype-phenotype correlation in 27 pediatric patients in congenital adrenal hyperplasia due to 21-hydroxylase deficiency in a single center. 6
24904866 2013
15
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. 6
23359698 2013
16
Structure-phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia. 6
23359706 2013
17
Investigation of CYP21A2 mutations in Turkish patients with 21-hydroxylase deficiency and a novel founder mutation. 6
23142378 2013
18
Genetic analysis of the CYP21A2 gene in neonatal dried blood spots from children with transiently elevated 17-hydroxyprogesterone. 6
22313422 2012
19
Nonclassic 21-hydroxylase deficiency presenting as endometrial hyperplasia with uterine bleeding in a 67-year-old woman. 6
22270556 2012
20
Three-dimensional structure of steroid 21-hydroxylase (cytochrome P450 21A2) with two substrates reveals locations of disease-associated variants. 6
22262854 2012
21
Steroid 21-hydroxylase gene mutational spectrum in 454 Argentinean patients: genotype-phenotype correlation in a large cohort of patients with congenital adrenal hyperplasia. 6
21609351 2011
22
Functional characterisation of the H365Y mutation of the 21-hydroxylase gene in congenital adrenal hyperplasia. 6
21134444 2011
23
Cardiovascular risk, metabolic profile, and body composition in adult males with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 6
21098686 2011
24
Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. 6
20926536 2011
25
Carrier testing for severe childhood recessive diseases by next-generation sequencing. 6
21228398 2011
26
Analysis of the CYP21A2 gene with intergenic recombination and multiple gene deletions in the RCCX module. 6
21117955 2011
27
Molecular defects of the CYP21A2 gene in Greek-Cypriot patients with congenital adrenal hyperplasia. 6
20838032 2011
28
Carrier detection and prenatal diagnosis of congenital adrenal hyperplasia must identify 'apparently mild' CYP21A2 alleles which associate neonatal salt-wasting disease. 6
20661889 2010
29
No correlation between androgen receptor CAG and GGN repeat length and the degree of genital virilization in females with 21-hydroxylase deficiency. 6
20233785 2010
30
Classic virilizing congenital adrenal hyperplasia presenting late: case series from Pakistan. 6
19750867 2009
31
Multiplex ligation-dependent probe amplification (MLPA) assay for the detection of CYP21A2 gene deletions/duplications in congenital adrenal hyperplasia: first technical report. 6
19263525 2009
32
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. 6
18445671 2008
33
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients. 6
18381579 2008
34
p.H62L, a rare mutation of the CYP21 gene identified in two forms of 21-hydroxylase deficiency. 6
18319307 2008
35
Characterization of novel missense mutations in CYP21 causing congenital adrenal hyperplasia. 6
17119906 2007
36
CYP21A2 mutations in Portuguese patients with congenital adrenal hyperplasia: identification of two novel mutations and characterization of four different partial gene conversions. 6
16427797 2006
37
Salt wasting phenotype in a compound heterozygous girl with P482S mutation associated with anovel mutation of CYP21 gene (Q481P). 6
16483186 2005
38
Not all amino acid substitutions of the common cluster E6 mutation in CYP21 cause congenital adrenal hyperplasia. 6
15623806 2005
39
Functional analysis of two recurrent amino acid substitutions in the CYP21 gene from Italian patients with congenital adrenal hyperplasia. 6
15126570 2004
40
Molecular genetic analysis of Tunisian patients with a classic form of 21-hydroxylase deficiency: identification of four novel mutations and high prevalence of Q318X mutation. 6
14715874 2004
41
Steroid 21-hydroxylase (P450c21) naturally occurring mutants I172N, V281L and I236n/V237E/M239K exert a dominant negative effect on enzymatic activity when co-expressed with the wild-type protein. 6
14513879 2003
42
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations. 6
12915679 2003
43
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. 6
12788880 2003
44
Three novel mutations in CYP21 gene in Brazilian patients with the classical form of 21-hydroxylase deficiency due to a founder effect. 6
12213891 2002
45
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. 6
12220458 2002
46
H28+C insertion in the CYP21 gene: a novel frameshift mutation in a Brazilian patient with the classical form of 21-hydroxylase deficiency. 6
11739456 2001
47
Mutational spectrum of the steroid 21-hydroxylase gene in Austria: identification of a novel missense mutation. 6
11600539 2001
48
CYP21 and CYP21P variability in steroid 21-hydroxylase deficiency patients and in the general population in the Netherlands. 6
11093272 2000
49
CYP21 analysis and phenotype/genotype relationship in the screened population of the Italian Emilia-Romagna region. 6
10931088 2000
50
A novel missense mutation, GLY424SER, in Brazilian patients with 21-hydroxylase deficiency. 6
10443693 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 142)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
2 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic 12151 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
3 TNXB , LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp) SNV Pathogenic 12152 rs7769409 GRCh37: 6:32008312-32008312
GRCh38: 6:32040535-32040535
4 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu) SNV Pathogenic 12153 rs9378251 GRCh37: 6:32006291-32006291
GRCh38: 6:32038514-32038514
5 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-13C>G SNV Pathogenic 12155 rs6467 GRCh37: 6:32006858-32006858
GRCh38: 6:32039081-32039081
6 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.874G>A (p.Gly292Ser) SNV Pathogenic 12156 rs201552310 GRCh37: 6:32007917-32007917
GRCh38: 6:32040140-32040140
7 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1451_1452delinsC (p.Arg484fs) Indel Pathogenic 12157 rs397509367 GRCh37: 6:32008874-32008875
GRCh38: 6:32041097-32041098
8 CYP21A2 -4C-T, PRO105LEU, AND PRO453SER SNV Pathogenic 12158 GRCh37:
GRCh38:
9 CYP21A2 CYP21A2, 30-KB DEL Deletion Pathogenic 12160 GRCh37:
GRCh38:
10 CYP21A2 CYP21A2, GENE CONVERSION CYP21 FROM CYP21P Variation Pathogenic 12161 GRCh37:
GRCh38:
11 LOC106780800 , CYP21A2 NM_000500.7(CYP21A2):c.332_339delGAGACTAC (p.Gly111Valfs) Deletion Pathogenic 12164 rs387906510 GRCh37: 6:32006910-32006917
GRCh38: 6:32039133-32039140
12 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic 31662 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
13 CYP21A2 CYP21A2, IVS7DS, G-C, +1 SNV Pathogenic 12168 GRCh37:
GRCh38:
14 TNXB , LOC106780800 , CYP21A2 NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) SNV Pathogenic 12169 rs6445 GRCh37: 6:32008198-32008198
GRCh38: 6:32040421-32040421
15 CYP21A2 CYP21A2, ARG339HIS AND PRO453SER SNV Pathogenic 12170 GRCh37:
GRCh38:
16 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1217G>A (p.Trp406Ter) SNV Pathogenic 12171 rs151344503 GRCh37: 6:32008543-32008543
GRCh38: 6:32040766-32040766
17 CYP21A2 CYP21A2, GLU380ASP Variation Pathogenic 12172 GRCh37:
GRCh38:
18 CYP21A2 CYP21A2, GLY424SER Variation Pathogenic 12174 GRCh37:
GRCh38:
19 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1280G>A (p.Arg427His) SNV Pathogenic 12175 rs151344504 GRCh37: 6:32008703-32008703
GRCh38: 6:32040926-32040926
20 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.85dup (p.His29fs) Duplication Pathogenic 12176 rs1582299448 GRCh37: 6:32006282-32006283
GRCh38: 6:32038505-32038506
21 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-2A>G SNV Pathogenic 12177 rs1582302625 GRCh37: 6:32006869-32006869
GRCh38: 6:32039092-32039092
22 CYP21A2 CYP21A2, 1-BP INS, 1003A Insertion Pathogenic 12178 GRCh37:
GRCh38:
23 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1225C>T (p.Arg409Cys) SNV Pathogenic 12179 rs72552757 GRCh37: 6:32008648-32008648
GRCh38: 6:32040871-32040871
24 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.844G>C (p.Val282Leu) SNV Pathogenic 65610 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
25 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.923dup (p.Leu308fs) Duplication Pathogenic 65611 rs267606756 GRCh37: 6:32007959-32007960
GRCh38: 6:32040182-32040183
26 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu) SNV Pathogenic 65613 rs12530380 GRCh37: 6:32007587-32007587
GRCh38: 6:32039810-32039810
27 CYP21A2 NM_000500.7:c.*28697972C>G SNV Pathogenic 189131 GRCh37:
GRCh38:
28 CYP21A2 NM_000500.7:c.*28698317T>A SNV Pathogenic 189132 GRCh37:
GRCh38:
29 CYP21A2 NM_000500.7:c.*28699001G>T SNV Pathogenic 189133 GRCh37:
GRCh38:
30 CYP21A2 NM_000500.7:c.*28697405C>T SNV Pathogenic 189134 GRCh37:
GRCh38:
31 CYP21A2 NM_000500.7:c.*28699312C>T SNV Pathogenic 189135 GRCh37:
GRCh38:
32 CYP21A2 NM_000500.7:c.*28699426C>T SNV Pathogenic 189136 GRCh37:
GRCh38:
33 CYP21A2 NM_000500.5:c.293-13A>G(659A>G) Variation Pathogenic 65606 GRCh37:
GRCh38:
34 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.361A>C (p.Lys121Gln) SNV Pathogenic 18452 rs267606757 GRCh37: 6:32006939-32006939
GRCh38: 6:32039162-32039162
35 CYP21A2 NM_000500.7:c.*28698024_*28698031del8 Deletion Pathogenic 189142 GRCh37:
GRCh38:
36 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys) Indel Pathogenic 189145 rs786204728 GRCh37: 6:32007584-32007593
GRCh38: 6:32039807-32039816
37 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
38 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn) SNV Pathogenic 12150 rs6475 GRCh37: 6:32007203-32007203
GRCh38: 6:32039426-32039426
39 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) SNV Pathogenic 12182 rs6471 GRCh37: 6:32007887-32007887
GRCh38: 6:32040110-32040110
40 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1447C>T (p.Pro483Ser) SNV Pathogenic 596309 rs776989258 GRCh37: 6:32008870-32008870
GRCh38: 6:32041093-32041093
41 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1272C>A (p.Cys424Ter) SNV Pathogenic 800601 rs1367112998 GRCh37: 6:32008695-32008695
GRCh38: 6:32040918-32040918
42 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1291G>A (p.Gly431Ser) SNV Pathogenic 800602 rs1582312633 GRCh37: 6:32008714-32008714
GRCh38: 6:32040937-32040937
43 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.509G>A (p.Cys170Tyr) SNV Pathogenic 800621 rs1582304457 GRCh37: 6:32007194-32007194
GRCh38: 6:32039417-32039417
44 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.525C>A (p.Tyr175Ter) SNV Pathogenic 800622 rs1582304536 GRCh37: 6:32007210-32007210
GRCh38: 6:32039433-32039433
45 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.293-13C>A SNV Pathogenic 196278 rs6467 GRCh37: 6:32006858-32006858
GRCh38: 6:32039081-32039081
46 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1118+2T>C SNV Pathogenic 997808 GRCh37: 6:32008363-32008363
GRCh38: 6:32040586-32040586
47 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.259del (p.Ala87fs) Deletion Pathogenic 1033057 GRCh37: 6:32006553-32006553
GRCh38: 6:32038776-32038776
48 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.614G>A (p.Trp205Ter) SNV Pathogenic 1033058 GRCh37: 6:32007387-32007387
GRCh38: 6:32039610-32039610
49 LOC106780800 , CYP21A2 NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser) SNV Pathogenic 12159 rs6445 GRCh37: 6:32008783-32008783
GRCh38: 6:32041006-32041006
50 CYP21A2 , LOC110631417 , LOC106780800 NM_000500.7:c.-113G>A SNV Likely pathogenic 987867 GRCh37: 6:32006087-32006087
GRCh38: 6:32038310-32038310

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...

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.16 POMC CYP21A2
2 10.99 POMC LEP
3
Show member pathways
10.43 POMC LEP
4 9.92 POMC LEP

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 response to nutrient GO:0007584 8.96 POR LEP
2 regulation of blood pressure GO:0008217 8.62 POMC LEP

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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