AH5
MCID: ADR052
MIFTS: 40

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 58
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 54 26 60 76
Deficiency of Steroid 17-Alpha-Monooxygenase 26 30 6
17-Alpha-Hydroxylase Deficiency 58 54 26
Congenital Adrenal Hyperplasia Type 5 54 26
17,20-Lyase Deficiency, Isolated 58 13
Adrenal Hyperplasia V 58 26
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 60
Congenital Adrenal Hyperplasia Due to 17 Alpha-Hydroxylase Deficiency 77
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 26
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 26
Combined 17-Hydroxylase/17,20-Lyase Deficiency 60
17-Alpha-Hydroxylase/17,20-Lyase Deficiency 58
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 26
Cah Due to 17-Alpha-Hydroxylase Deficiency 60
Steroid 17-Alpha-Monooxygenase Deficiency 41
Adrenal Hyperplasia, Congenital, Type 5 74
17 Alpha Hydroxylase Deficiency 77
Isolated 17,20-Lyase Deficiency 6
Adrenal Hyperplasia Type V 76
Adrenal Hyperplasia 5 76
Ah-V 76
Ah5 76

Characteristics:

Orphanet epidemiological data:

60
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Adrenal Hyperplasia, Congenital, Due to 17-Alpha-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: 90793Disease definitionCongenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency is a very rare form of congenital adrenal hyperplasia (CAH; see this term) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.EpidemiologyIt accounts for approximately 1% of all CAH cases. The prevalence is therefore around 1/1,000,000.Clinical descriptionBoth 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.EtiologyThe disease is caused by a mutation in the CYP17A1 gene located on chromosome 10 q24.3.Genetic counselingThe disease follows an autosomal recessive pattern of inheritance.Visit the Orphanet disease page for more resources.

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 lipoid congenital adrenal hyperplasia. 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 ovary, kidney and testes, and related phenotypes are delayed skeletal maturation and delayed puberty

Genetics Home Reference : 26 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.

UniProtKB/Swiss-Prot : 76 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 : 77 Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency is an uncommon form of congenital... more...

Description 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 11)
# Related Disease Score Top Affiliating Genes
1 methemoglobinemia and ambiguous genitalia 12.1
2 lipoid congenital adrenal hyperplasia 10.4
3 pseudohermaphroditism 10.2
4 adrenal adenoma 10.2
5 adenoma 10.2
6 hypertensive encephalopathy 10.2
7 seizure disorder 10.2
8 encephalopathy 10.2
9 gonadal agenesis 10.0
10 amenorrhea 10.0
11 myopathy 10.0

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:

60 33 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
2 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
3 osteoporosis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
4 primary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000786
5 hypospadias 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000047
6 hypergonadotropic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000815
7 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008187
8 decreased serum testosterone level 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0040171
9 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002231
10 enlarged polycystic ovaries 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008675
11 micropenis 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000054
12 dysmenorrhea 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100607
13 hypoplasia of the uterus 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000013
14 decreased serum estradiol 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008214
15 primary gonadal insufficiency 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008193
16 sparse pubic hair 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002225
17 sparse axillary hair 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002215
18 congenital adrenal hyperplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008258
19 abnormality of circulating corticosterone level 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012112
20 elevated circulating follicle stimulating hormone level 33 hallmark (90%) HP:0008232
21 elevated circulating luteinizing hormone level 33 hallmark (90%) HP:0011969
22 hypertension 60 33 frequent (33%) Frequent (79-30%) HP:0000822
23 short stature 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
24 hypokalemia 60 33 frequent (33%) Frequent (79-30%) HP:0002900
25 cryptorchidism 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000028
26 decreased testicular size 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008734
27 hyperaldosteronism 60 33 frequent (33%) Frequent (79-30%) HP:0000859
28 generalized hyperpigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007440
29 increased circulating acth level 60 33 frequent (33%) Frequent (79-30%) HP:0003154
30 decreased circulating cortisol level 60 33 frequent (33%) Frequent (79-30%) HP:0008163
31 adrenocorticotropic hormone excess 60 33 frequent (33%) Frequent (79-30%) HP:0011749
32 decreased fertility in females 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000868
33 decreased fertility in males 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0012041
34 abnormal ekg 60 33 frequent (33%) Frequent (79-30%) HP:0003115
35 hypoplasia of the vagina 60 33 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008726
36 decreased circulating renin level 60 33 frequent (33%) Frequent (79-30%) HP:0003351
37 hypervolemia 60 33 frequent (33%) Frequent (79-30%) HP:0011105
38 abnormal circulating aldosterone 60 33 frequent (33%) Frequent (79-30%) HP:0040085
39 aortic root aneurysm 33 frequent (33%) HP:0002616
40 failure to thrive 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001508
41 gynecomastia 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000771
42 male pseudohermaphroditism 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000037
43 ambiguous genitalia, male 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000033
44 female external genitalia in individual with 46,xy karyotype 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0008730
45 abnormal sex determination 60 33 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012244
46 reduced bone mineral density 60 Very frequent (99-80%),Very frequent (99-80%)
47 primary adrenal insufficiency 60 Occasional (29-5%)
48 polycystic ovaries 60 Very frequent (99-80%),Very frequent (99-80%)
49 decreased fertility 60 Very frequent (99-80%),Very frequent (99-80%)
50 ambiguous genitalia 33 HP:0000062

Symptoms via clinical synopsis from OMIM:

58
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

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 30 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:

42
Ovary, Kidney, Testes, Adrenal Gland, Bone, Uterus

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

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

# Title Authors Year
1
Congenital adrenal hyperplasia due to 17-alpha hydroxylase deficiency with hypertensive encephalopathy, hypoglycemic seizures and adrenal insufficiency. ( 30104848 )
2018
2
No linkage between HLA and congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. ( 6601238 )
1983
3
No linkage between HLA and congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency. ( 6967187 )
1980

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

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

76 (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

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 CYP17A1 NM_000102.3(CYP17A1): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs104894136 GRCh37 Chromosome 10, 104593831: 104593831
2 CYP17A1 NM_000102.3(CYP17A1): c.715C> T (p.Arg239Ter) single nucleotide variant Pathogenic rs104894136 GRCh38 Chromosome 10, 102834074: 102834074
3 CYP17A1 NM_000102.3(CYP17A1): c.286C> T (p.Arg96Trp) single nucleotide variant Pathogenic rs104894138 GRCh37 Chromosome 10, 104596833: 104596833
4 CYP17A1 NM_000102.3(CYP17A1): c.286C> T (p.Arg96Trp) single nucleotide variant Pathogenic rs104894138 GRCh38 Chromosome 10, 102837076: 102837076
5 CYP17A1 NM_000102.3(CYP17A1): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs61754278 GRCh37 Chromosome 10, 104592367: 104592367
6 CYP17A1 NM_000102.3(CYP17A1): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs61754278 GRCh38 Chromosome 10, 102832610: 102832610
7 CYP17A1 NM_000102.3(CYP17A1): c.1073G> A (p.Arg358Gln) single nucleotide variant Pathogenic rs104894139 GRCh37 Chromosome 10, 104592334: 104592334
8 CYP17A1 NM_000102.3(CYP17A1): c.1073G> A (p.Arg358Gln) single nucleotide variant Pathogenic rs104894139 GRCh38 Chromosome 10, 102832577: 102832577
9 CYP17A1 NM_000102.3(CYP17A1): c.1162A> T (p.Lys388Ter) single nucleotide variant Pathogenic rs1060499582 GRCh37 Chromosome 10, 104591346: 104591346
10 CYP17A1 NM_000102.3(CYP17A1): c.1162A> T (p.Lys388Ter) single nucleotide variant Pathogenic rs1060499582 GRCh38 Chromosome 10, 102831589: 102831589
11 CYP17A1 NM_000102.3(CYP17A1): c.297+2T> C single nucleotide variant Pathogenic rs764723654 GRCh38 Chromosome 10, 102837063: 102837063
12 CYP17A1 NM_000102.3(CYP17A1): c.297+2T> C single nucleotide variant Pathogenic rs764723654 GRCh37 Chromosome 10, 104596820: 104596820
13 CYP17A1 NM_000102.3(CYP17A1): c.1241C> T (p.Pro414Leu) single nucleotide variant Likely pathogenic rs1554879846 GRCh37 Chromosome 10, 104591267: 104591267
14 CYP17A1 NM_000102.3(CYP17A1): c.1241C> T (p.Pro414Leu) single nucleotide variant Likely pathogenic rs1554879846 GRCh38 Chromosome 10, 102831510: 102831510

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 GO:0005783 8.96 CYB5A CYP17A1
2 endoplasmic reticulum membrane GO:0005789 8.62 CYB5A CYP17A1

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 CYB5A CYP17A1

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 CYB5A CYP17A1

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

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