AH5
MCID: ADR052
MIFTS: 44

Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency (AH5)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

MalaCards integrated aliases for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

Name: Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 57
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 20 43 58 72
Deficiency of Steroid 17-Alpha-Monooxygenase 43 29 6
17-Alpha-Hydroxylase Deficiency 57 20 43
Congenital Adrenal Hyperplasia Type 5 20 43
17,20-Lyase Deficiency, Isolated 57 13
Adrenal Hyperplasia V 57 43
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 58
Congenital Adrenal Hyperplasia Due to 17 Alpha-Hydroxylase Deficiency 73
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 43
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 43
Combined 17-Hydroxylase/17,20-Lyase Deficiency 58
17-Alpha-Hydroxylase/17,20-Lyase Deficiency 57
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 43
Cah Due to 17-Alpha-Hydroxylase Deficiency 58
Adrenal Hyperplasia, Congenital, Type 5 70
17 Alpha Hydroxylase Deficiency 73
Isolated 17,20-Lyase Deficiency 6
Adrenal Hyperplasia Type V 72
Adrenal Hyperplasia 5 72
Ah-V 72
Ah5 72

Characteristics:

Orphanet epidemiological data:

58
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

MedlinePlus Genetics : 43 17 alpha(α)-hydroxylase/17,20-lyase deficiency is a condition that affects the function of certain hormone-producing glands called the gonads (ovaries in females and testes in males) and the adrenal glands. The gonads direct sexual development before birth and during puberty and are important for reproduction. The adrenal glands, which are located on top of the kidneys, regulate the production of certain hormones, including those that control salt levels in the body. People with 17α-hydroxylase/17,20-lyase deficiency have an imbalance of many of the hormones that are made in these glands. 17α-hydroxylase/17,20-lyase deficiency is one of a group of disorders, known as congenital adrenal hyperplasias, that impair hormone production and disrupt sexual development and maturation.Hormone imbalances lead to the characteristic signs and symptoms of 17α-hydroxylase/17,20-lyase deficiency, which include high blood pressure (hypertension), low levels of potassium in the blood (hypokalemia), and abnormal sexual development. The severity of the features varies. Two forms of the condition are recognized: complete 17α-hydroxylase/17,20-lyase deficiency, which is more severe, and partial 17α-hydroxylase/17,20-lyase deficiency, which is typically less so.Males and females are affected by disruptions to sexual development differently. Females (who have two X chromosomes) with 17α-hydroxylase/17,20-lyase deficiency are born with normal external female genitalia; however, the internal reproductive organs, including the uterus and ovaries, may be underdeveloped. Women with complete 17α-hydroxylase/17,20-lyase deficiency do not develop secondary sex characteristics, such as breasts and pubic hair, and do not menstruate (amenorrhea). Women with partial 17α-hydroxylase/17,20-lyase deficiency may develop some secondary sex characteristics; menstruation is typically irregular or absent. Either form of the disorder results in an inability to conceive a baby (infertility).In affected individuals who are chromosomally male (having an X and a Y chromosome), problems with sexual development lead to abnormalities of the external genitalia. The most severely affected are born with characteristically female external genitalia and are generally raised as females. However, because they do not have female internal reproductive organs, these individuals have amenorrhea and do not develop female secondary sex characteristics. These individuals have testes, but they are abnormally located in the abdomen (undescended). Sometimes, complete 17α-hydroxylase/17,20-lyase deficiency leads to external genitalia that do not look clearly male or clearly female (ambiguous genitalia). Males with partial 17α-hydroxylase/17,20-lyase deficiency usually have abnormal male genitalia, such as a small penis (micropenis), the opening of the urethra on the underside of the penis (hypospadias), or a scrotum divided into two lobes (bifid scrotum). Males with either complete or partial 17α-hydroxylase/17,20-lyase deficiency are also infertile.

MalaCards based summary : Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency, also known as congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, is related to methemoglobinemia and ambiguous genitalia and pseudohermaphroditism. An important gene associated with Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency is CYP17A1 (Cytochrome P450 Family 17 Subfamily A Member 1), and among its related pathways/superpathways is Cytochrome P450 - arranged by substrate type. Affiliated tissues include testes, uterus and bone, and related phenotypes are delayed skeletal maturation and delayed puberty

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90793 Definition A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension. Epidemiology It accounts for approximately 1% of all CAH cases. The prevalence is therefore around 1/1,000,000. Clinical description Both a sex steroid and glucocorticoid deficiency are present. Common manifestations include undervirilization in males, primary amenorrhea in females and lack of pubertal development in both sexes. Hypertension, often accompanied by hypokalemia, can also develop due to the mineralocorticoid excess seen in this disease. Etiology The disease is caused by a mutation in the CYP17A1 gene located on chromosome 10 q24.3. Genetic counseling The disease follows an autosomal recessive pattern of inheritance.

UniProtKB/Swiss-Prot : 72 Adrenal hyperplasia 5: 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).

Wikipedia : 73 Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital... more...

More information from OMIM: 202110

Related Diseases for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Diseases related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia and ambiguous genitalia 11.9
2 pseudohermaphroditism 10.7
3 lipoid congenital adrenal hyperplasia 10.6
4 hypokalemia 10.6
5 amenorrhea 10.6
6 hypogonadism 10.5
7 breast cancer 10.3
8 dowling-degos disease 1 10.3
9 ovarian hyperstimulation syndrome 10.3
10 marek disease 10.3
11 congenital methemoglobinemia 10.3
12 infertility 10.3
13 penis agenesis 10.3
14 adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 10.2
15 malignant hypertension 10.2
16 antley-bixler syndrome with genital anomalies and disordered steroidogenesis 10.2
17 46,xy sex reversal 3 10.2
18 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency 10.2
19 methemoglobinemia 10.2
20 polycystic ovary syndrome 10.2
21 disorder of sexual development 10.2
22 cytochrome p450 oxidoreductase deficiency 10.2
23 syndrome with 46,xy disorder of sex development 10.2
24 hypertension, essential 10.0
25 gonadal agenesis 10.0
26 autosomal recessive disease 10.0
27 inguinal hernia 10.0
28 familial glucocorticoid deficiency 10.0
29 hypospadias 10.0
30 infant gynecomastia 10.0
31 nephrosclerosis 10.0
32 conn's syndrome 10.0
33 gynecomastia 10.0
34 papilledema 10.0
35 myopathy 10.0
36 adrenal adenoma 10.0
37 hypertensive encephalopathy 10.0
38 46, xy disorders of sexual development 10.0
39 gigantism 10.0
40 encephalopathy 10.0
41 seizure disorder 10.0
42 swine influenza 10.0
43 androgen insensitivity syndrome 9.9
44 complete androgen insensitivity syndrome 9.9
45 gender identity disorder 9.9
46 disease of mental health 9.9
47 antley-bixler syndrome 9.6 CYP17A1 CYB5A
48 adrenal cortical adenoma 9.5 CYP17A1 CYB5A

Graphical network of the top 20 diseases related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:



Diseases related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency

Symptoms & Phenotypes for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Human phenotypes related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

58 31 (show top 50) (show all 55)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
3 osteoporosis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
4 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000786
5 micropenis 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000054
6 hypospadias 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000047
7 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002231
8 enlarged polycystic ovaries 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008675
9 dysmenorrhea 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100607
10 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000815
11 sparse axillary hair 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002215
12 sparse pubic hair 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002225
13 decreased serum estradiol 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008214
14 hypoplasia of the uterus 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000013
15 primary gonadal insufficiency 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008193
16 elevated circulating follicle stimulating hormone level 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008232
17 elevated circulating luteinizing hormone level 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0011969
18 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008187
19 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0040171
20 congenital adrenal hyperplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008258
21 abnormal circulating corticosterone level 31 hallmark (90%) HP:0012112
22 hypertension 58 31 frequent (33%) Frequent (79-30%) HP:0000822
23 short stature 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
24 hypokalemia 58 31 frequent (33%) Frequent (79-30%) HP:0002900
25 cryptorchidism 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000028
26 hyperaldosteronism 58 31 frequent (33%) Frequent (79-30%) HP:0000859
27 generalized hyperpigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007440
28 decreased testicular size 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008734
29 aortic root aneurysm 58 31 frequent (33%) Frequent (79-30%) HP:0002616
30 decreased fertility in males 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0012041
31 hypoplasia of the vagina 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008726
32 decreased fertility in females 58 31 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000868
33 abnormal ekg 58 31 frequent (33%) Frequent (79-30%) HP:0003115
34 increased circulating acth level 58 31 frequent (33%) Frequent (79-30%) HP:0003154
35 decreased circulating renin level 58 31 frequent (33%) Frequent (79-30%) HP:0003351
36 decreased circulating cortisol level 58 31 frequent (33%) Frequent (79-30%) HP:0008163
37 hypervolemia 58 31 frequent (33%) Frequent (79-30%) HP:0011105
38 adrenocorticotropic hormone excess 58 31 frequent (33%) Frequent (79-30%) HP:0011749
39 abnormal circulating aldosterone 58 31 frequent (33%) Frequent (79-30%) HP:0040085
40 failure to thrive 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001508
41 gynecomastia 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000771
42 male pseudohermaphroditism 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000037
43 ambiguous genitalia, male 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000033
44 female external genitalia in individual with 46,xy karyotype 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0008730
45 abnormal sex determination 58 31 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012244
46 reduced bone mineral density 58 Very frequent (99-80%),Very frequent (99-80%)
47 polycystic ovaries 58 Very frequent (99-80%),Very frequent (99-80%)
48 decreased fertility 58 Very frequent (99-80%),Very frequent (99-80%)
49 ambiguous genitalia 31 HP:0000062
50 primary adrenal insufficiency 58 Occasional (29-5%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Metabolic:
hypertension
hypokalemic alkalosis

Thorax:
gynecomastia

Lab:
17-alpha-hydroxylase deficiency
acth increased
fsh increased

G U:
primary amenorrhea
male pseudohermaphroditism
ambiguous genitalia

Endo:
adrenogenital syndrome

Clinical features from OMIM®:

202110 (Updated 20-May-2021)

Drugs & Therapeutics for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Search Clinical Trials , NIH Clinical Center for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency

Genetic Tests for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Genetic tests related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

# Genetic test Affiliating Genes
1 Deficiency of Steroid 17-Alpha-Monooxygenase 29 CYP17A1

Anatomical Context for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

MalaCards organs/tissues related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

40
Testes, Uterus, Bone, Breast, Ovary

Publications for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Articles related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

(show all 39)
# Title Authors PMID Year
1
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency. 57 6
11549685 2001
2
The genetic and functional basis of isolated 17,20-lyase deficiency. 6 57
9326943 1997
3
Structural characterization of normal and mutant human steroid 17 alpha-hydroxylase genes: molecular basis of one example of combined 17 alpha-hydroxylase/17,20 lyase deficiency. 57 6
2843762 1988
4
17-alpha-hydroxylase deficiency in three siblings: short- and long-term studies. 57 61
1648117 1991
5
No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. 57 61
6601238 1983
6
No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. 61 57
6967187 1980
7
Steroid 17-hydroxylase and 17,20-lyase deficiencies, genetic and pharmacologic. 57
26862015 2017
8
17α‑hydroxylase/17,20‑lyase deficiency in congenital adrenal hyperplasia: A case report. 6
27959413 2017
9
Clinical characteristics and mutation analysis of two Chinese children with 17a-hydroxylase/17,20-lyase deficiency. 6
26770544 2015
10
Phenotypic variation in a Chinese family with 46,XY and 46,XX 17α-hydroxylase deficiency. 6
22087567 2012
11
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. 57
18559916 2008
12
Phenotype-genotype correlation in eight Chinese 17alpha-hydroxylase/17,20 lyase-deficiency patients with five novel mutations of CYP17A1 gene. 6
16772352 2006
13
Seventeen alpha-hydroxylase deficiency. 6
16477341 2006
14
17alpha-hydroxylase/17,20-Lyase deficiency due to novel compound heterozygote mutations: treatment for tall stature in a female with male pseudohermaphroditism and spontaneous puberty in her affected sister. 6
15844475 2005
15
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping. 57
14671162 2003
16
A complex heterozygous mutation of His373Leu and Asp487-Ser488-Phe489 deletion in human cytochrome P450c17 causes 17alpha-hydroxylase/17,20-lyase deficiency in three Chinese sisters. 6
12706306 2003
17
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency. 6
12466376 2002
18
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency. 57
9360545 1997
19
A 5'-splice site mutation in the cytochrome P450 steroid 17alpha-hydroxylase gene in 17alpha-hydroxylase deficiency. 57
9177409 1997
20
17 alpha-Hydroxylase deficiency: 1963-1966. 57
8989231 1997
21
Mutation of cytochrome P-45017 alpha gene (CYP17) in a Japanese patient previously reported as having glucocorticoid-responsive hyperaldosteronism: with a review of Japanese patients with mutations of CYP17. 57
8855840 1996
22
Seventeen alpha-hydroxylase deficiency with one base pair deletion of the cytochrome P450c17 (CYP17) gene. 57
7629254 1995
23
Canadian Mennonites and individuals residing in the Friesland region of The Netherlands share the same molecular basis of 17 alpha-hydroxylase deficiency. 6
1577471 1992
24
17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition. 57
2026124 1991
25
Deletion of a phenylalanine in the N-terminal region of human cytochrome P-450(17 alpha) results in partial combined 17 alpha-hydroxylase/17,20-lyase deficiency. 57
2808364 1989
26
Identification of a common molecular basis for combined 17 alpha-hydroxylase/17,20-lyase deficiency in two Mennonite families. 6
2786493 1989
27
Hypokalemic myopathy associated with 17 alpha-hydroxylase deficiency: a case report. 57
6976525 1982
28
Direct evidence for a functional block in 18 oxidation in a patient with 17 alpha hydroxylase deficiency. 57
224555 1978
29
Female phenotype in a male child due to 17-alpha-hydroxylase deficiency. 57
999330 1976
30
Male pseudohermaphroditism due to 17 alpha-hydroxylase deficiency. 57
5456802 1970
31
Congenital adrenal hyperplasia secondary to 17-hydroxylase deficiency. Two sisters with amenorrhea, hypokalemia, hypertension, and cystic ovaries. 57
4303304 1969
32
Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome. 57
6039879 1967
33
17-hydroxylation deficiency in man. 57
4288776 1966
34
Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency. 61
30104848 2018
35
Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature. 61
27853336 2016
36
Combined 17 alpha-hydroxylase/17,20-lyase deficiency caused by heterozygous stop codons in the cytochrome P450 17 alpha-hydroxylase gene. 61
8287576 1993
37
17 alpha-Hydroxylase deficiency with persistence of müllerian ducts in a genotypic male and paradoxical aldosterone secretion. 61
8506204 1993
38
In vitro fertilization and primary embryonic cleavage are possible in 17 alpha-hydroxylase deficiency despite extremely low intrafollicular 17 beta-estradiol. 61
2493041 1989
39
[Malignant arterial hypertension disclosing late congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency]. 61
3142437 1988

Variations for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

ClinVar genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

6 (show top 50) (show all 51)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CYP17A1 NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln) SNV Pathogenic 1788 rs104894139 GRCh37: 10:104592334-104592334
GRCh38: 10:102832577-102832577
2 CYP17A1 NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) SNV Pathogenic 1787 rs61754278 GRCh37: 10:104592367-104592367
GRCh38: 10:102832610-102832610
3 CYP17A1 NM_000102.4(CYP17A1):c.1162A>T (p.Lys388Ter) SNV Pathogenic 417889 rs1060499582 GRCh37: 10:104591346-104591346
GRCh38: 10:102831589-102831589
4 CYP17A1 NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp) SNV Pathogenic 1785 rs104894138 GRCh37: 10:104596833-104596833
GRCh38: 10:102837076-102837076
5 CYP17A1 NM_000102.4(CYP17A1):c.297+2T>C SNV Pathogenic 431980 rs764723654 GRCh37: 10:104596820-104596820
GRCh38: 10:102837063-102837063
6 CYP17A1 NM_000102.4(CYP17A1):c.362G>A (p.Trp121Ter) SNV Pathogenic 1030596 GRCh37: 10:104595085-104595085
GRCh38: 10:102835328-102835328
7 CYP17A1 NM_000102.4(CYP17A1):c.1A>G (p.Met1Val) SNV Pathogenic 651482 rs1590204913 GRCh37: 10:104597118-104597118
GRCh38: 10:102837361-102837361
8 CYP17A1 NM_000102.4(CYP17A1):c.1459_1467del (p.Asp487_Phe489del) Deletion Pathogenic 631622 rs756135168 GRCh37: 10:104590519-104590527
GRCh38: 10:102830762-102830770
9 CYP17A1 NM_000102.4(CYP17A1):c.316T>C (p.Ser106Pro) SNV Pathogenic 1780 rs104894135 GRCh37: 10:104595131-104595131
GRCh38: 10:102835374-102835374
10 CYP17A1 NM_000102.4(CYP17A1):c.1040G>A (p.Arg347His) SNV Pathogenic 1787 rs61754278 GRCh37: 10:104592367-104592367
GRCh38: 10:102832610-102832610
11 CYP17A1 NM_000102.4(CYP17A1):c.1241C>T (p.Pro414Leu) SNV Likely pathogenic 434879 rs1554879846 GRCh37: 10:104591267-104591267
GRCh38: 10:102831510-102831510
12 CYP17A1 NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs) Duplication Conflicting interpretations of pathogenicity 1777 rs556794126 GRCh37: 10:104590547-104590548
GRCh38: 10:102830790-102830791
13 CYP17A1-AS1 , CYP17A1 NM_000102.4(CYP17A1):c.847G>C (p.Asp283His) SNV Uncertain significance 298621 rs746480412 GRCh37: 10:104592872-104592872
GRCh38: 10:102833115-102833115
14 LOC110408762 , CYP17A1 NM_000102.4(CYP17A1):c.-14G>A SNV Uncertain significance 298627 rs17115125 GRCh37: 10:104597132-104597132
GRCh38: 10:102837375-102837375
15 CYP17A1 NM_000102.4(CYP17A1):c.*67C>A SNV Uncertain significance 298617 rs886046666 GRCh37: 10:104590392-104590392
GRCh38: 10:102830635-102830635
16 CYP17A1 NM_000102.4(CYP17A1):c.1363A>G (p.Ile455Val) SNV Uncertain significance 298619 rs138630127 GRCh37: 10:104590623-104590623
GRCh38: 10:102830866-102830866
17 LOC110408762 , CYP17A1 NM_000102.4(CYP17A1):c.-15C>T SNV Uncertain significance 298628 rs140012815 GRCh37: 10:104597133-104597133
GRCh38: 10:102837376-102837376
18 CYP17A1 NM_000102.4(CYP17A1):c.*65C>A SNV Uncertain significance 298618 rs537220295 GRCh37: 10:104590394-104590394
GRCh38: 10:102830637-102830637
19 CYP17A1 NM_000102.4(CYP17A1):c.298-11G>C SNV Uncertain significance 298623 rs188885755 GRCh37: 10:104595160-104595160
GRCh38: 10:102835403-102835403
20 CYP17A1 NM_000102.4(CYP17A1):c.*130C>T SNV Uncertain significance 298616 rs886046665 GRCh37: 10:104590329-104590329
GRCh38: 10:102830572-102830572
21 CYP17A1 NM_000102.4(CYP17A1):c.1269C>G (p.Thr423=) SNV Uncertain significance 298620 rs554217514 GRCh37: 10:104590717-104590717
GRCh38: 10:102830960-102830960
22 CYP17A1 NM_000102.4(CYP17A1):c.1488C>T (p.Arg496=) SNV Uncertain significance 877968 GRCh37: 10:104590498-104590498
GRCh38: 10:102830741-102830741
23 CYP17A1 NM_000102.4(CYP17A1):c.1134C>T (p.Asp378=) SNV Uncertain significance 877969 GRCh37: 10:104592273-104592273
GRCh38: 10:102832516-102832516
24 CYP17A1 NM_000102.4(CYP17A1):c.1019G>A (p.Arg340His) SNV Uncertain significance 877970 GRCh37: 10:104592388-104592388
GRCh38: 10:102832631-102832631
25 CYP17A1 NM_000102.4(CYP17A1):c.988G>A (p.Glu330Lys) SNV Uncertain significance 877971 GRCh37: 10:104592419-104592419
GRCh38: 10:102832662-102832662
26 CYP17A1 NM_000102.4(CYP17A1):c.987C>T (p.Tyr329=) SNV Uncertain significance 765172 rs374769118 GRCh37: 10:104592420-104592420
GRCh38: 10:102832663-102832663
27 CYP17A1-AS1 , CYP17A1 NM_000102.4(CYP17A1):c.753+13G>A SNV Uncertain significance 879430 GRCh37: 10:104593780-104593780
GRCh38: 10:102834023-102834023
28 CYP17A1-AS1 , CYP17A1 NM_000102.4(CYP17A1):c.671T>C (p.Phe224Ser) SNV Uncertain significance 879431 GRCh37: 10:104593875-104593875
GRCh38: 10:102834118-102834118
29 CYP17A1 NM_000102.4(CYP17A1):c.412G>A (p.Gly138Ser) SNV Uncertain significance 879432 GRCh37: 10:104595035-104595035
GRCh38: 10:102835278-102835278
30 CYP17A1 NM_000102.4(CYP17A1):c.200G>A (p.Arg67His) SNV Uncertain significance 879433 GRCh37: 10:104596919-104596919
GRCh38: 10:102837162-102837162
31 CYP17A1 NM_000102.4(CYP17A1):c.100C>T (p.Leu34=) SNV Uncertain significance 879804 GRCh37: 10:104597019-104597019
GRCh38: 10:102837262-102837262
32 LOC110408762 , CYP17A1 NM_000102.4(CYP17A1):c.-33G>A SNV Uncertain significance 879805 GRCh37: 10:104597151-104597151
GRCh38: 10:102837394-102837394
33 CYP17A1 NM_000102.4(CYP17A1):c.62G>A (p.Arg21Lys) SNV Uncertain significance 298626 rs61754263 GRCh37: 10:104597057-104597057
GRCh38: 10:102837300-102837300
34 CYP17A1 NM_000102.4(CYP17A1):c.1458C>T (p.Ile486=) SNV Uncertain significance 755651 rs147557447 GRCh37: 10:104590528-104590528
GRCh38: 10:102830771-102830771
35 CYP17A1-AS1 , CYP17A1 NM_000102.4(CYP17A1):c.702C>T (p.Ser234=) SNV Uncertain significance 755338 rs146311005 GRCh37: 10:104593844-104593844
GRCh38: 10:102834087-102834087
36 CYP17A1 NM_000102.4(CYP17A1):c.108G>A (p.Leu36=) SNV Uncertain significance 726630 rs112892739 GRCh37: 10:104597011-104597011
GRCh38: 10:102837254-102837254
37 CYP17A1 NM_000102.4(CYP17A1):c.102G>T (p.Leu34=) SNV Uncertain significance 796460 rs752346898 GRCh37: 10:104597017-104597017
GRCh38: 10:102837260-102837260
38 CYP17A1 NM_000102.4(CYP17A1):c.1414C>A (p.Gln472Lys) SNV Uncertain significance 991845 GRCh37: 10:104590572-104590572
GRCh38: 10:102830815-102830815
39 CYP17A1 NM_000102.4(CYP17A1):c.1227G>A (p.Pro409=) SNV Uncertain significance 991846 GRCh37: 10:104591281-104591281
GRCh38: 10:102831524-102831524
40 CYP17A1 NM_000102.4(CYP17A1):c.522G>A (p.Ala174=) SNV Uncertain significance 991847 GRCh37: 10:104594686-104594686
GRCh38: 10:102834929-102834929
41 CYP17A1 NM_000102.4(CYP17A1):c.483C>T (p.Asn161=) SNV Uncertain significance 991848 GRCh37: 10:104594725-104594725
GRCh38: 10:102834968-102834968
42 CYP17A1 NM_000102.4(CYP17A1):c.384G>A (p.Ala128=) SNV Uncertain significance 991849 GRCh37: 10:104595063-104595063
GRCh38: 10:102835306-102835306
43 CYP17A1 NM_000102.4(CYP17A1):c.235C>G (p.His79Asp) SNV Uncertain significance 991850 GRCh37: 10:104596884-104596884
GRCh38: 10:102837127-102837127
44 CYP17A1 NM_000102.4(CYP17A1):c.235C>A (p.His79Asn) SNV Uncertain significance 991851 GRCh37: 10:104596884-104596884
GRCh38: 10:102837127-102837127
45 CYP17A1 NM_000102.4(CYP17A1):c.225T>G (p.Ile75Met) SNV Uncertain significance 991852 GRCh37: 10:104596894-104596894
GRCh38: 10:102837137-102837137
46 CYP17A1 NM_000102.4(CYP17A1):c.186C>T (p.Pro62=) SNV Uncertain significance 991853 GRCh37: 10:104596933-104596933
GRCh38: 10:102837176-102837176
47 CYP17A1 NM_000102.4(CYP17A1):c.628A>G (p.Ser210Gly) SNV Uncertain significance 298622 rs142435666 GRCh37: 10:104594580-104594580
GRCh38: 10:102834823-102834823
48 CYP17A1 NM_000102.4(CYP17A1):c.138C>T (p.His46=) SNV Benign 298625 rs6162 GRCh37: 10:104596981-104596981
GRCh38: 10:102837224-102837224
49 CYP17A1 NM_000102.4(CYP17A1):c.195G>T (p.Ser65=) SNV Benign 298624 rs6163 GRCh37: 10:104596924-104596924
GRCh38: 10:102837167-102837167
50 LOC110408762 , CYP17A1 NM_000102.4(CYP17A1):c.-34T>C SNV Benign 298630 rs743572 GRCh37: 10:104597152-104597152
GRCh38: 10:102837395-102837395

UniProtKB/Swiss-Prot genetic disease variations for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency:

72 (show all 26)
# Symbol AA change Variation ID SNP ID
1 CYP17A1 p.Tyr64Ser VAR_001271 rs118314739
2 CYP17A1 p.Ser106Pro VAR_001272 rs104894135
3 CYP17A1 p.Pro342Thr VAR_001274 rs104894137
4 CYP17A1 p.Arg347His VAR_001275 rs61754278
5 CYP17A1 p.Arg358Gln VAR_001276 rs104894139
6 CYP17A1 p.His373Leu VAR_001277 rs760695410
7 CYP17A1 p.Arg440His VAR_001278 rs777638364
8 CYP17A1 p.Arg496Cys VAR_001280 rs125046356
9 CYP17A1 p.Phe93Cys VAR_013147 rs104894146
10 CYP17A1 p.Pro35Leu VAR_022745
11 CYP17A1 p.Arg96Trp VAR_022746 rs104894138
12 CYP17A1 p.Phe114Val VAR_022747 rs104894147
13 CYP17A1 p.Asp116Val VAR_022748 rs104894148
14 CYP17A1 p.Asn177Asp VAR_022749
15 CYP17A1 p.Tyr329Asp VAR_022750 rs104894144
16 CYP17A1 p.Arg347Cys VAR_022752 rs104894149
17 CYP17A1 p.Arg362Cys VAR_022753 rs104894142
18 CYP17A1 p.Trp406Arg VAR_022754 rs104894143
19 CYP17A1 p.Phe417Cys VAR_022755 rs104894140
20 CYP17A1 p.Pro428Leu VAR_022756 rs104894145
21 CYP17A1 p.Arg496His VAR_022757 rs763398879
22 CYP17A1 p.Arg96Gln VAR_073043 rs104894153
23 CYP17A1 p.Trp121Arg VAR_073044
24 CYP17A1 p.Ala174Glu VAR_073045
25 CYP17A1 p.His373Asn VAR_073046 rs142356012
26 CYP17A1 p.Trp406Leu VAR_073047

Expression for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Search GEO for disease gene expression data for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency.

Pathways for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

GO Terms for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

Cellular components related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum membrane GO:0005789 9.16 CYP17A1 CYB5A
2 intracellular membrane-bounded organelle GO:0043231 8.96 CYP17A1 CYB5A
3 organelle membrane GO:0031090 8.62 CYP17A1 CYB5A

Biological processes related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.62 CYP17A1 CYB5A

Molecular functions related to Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 8.62 CYP17A1 CYB5A

Sources for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase...

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