AH5
MCID: ADR052
MIFTS: 41

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 53 25 59 75
Deficiency of Steroid 17-Alpha-Monooxygenase 25 29 6
17-Alpha-Hydroxylase Deficiency 57 53 25
Congenital Adrenal Hyperplasia Type 5 53 25
17,20-Lyase Deficiency, Isolated 57 13
Adrenal Hyperplasia V 57 25
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 59
Congenital Adrenal Hyperplasia Due to 17 Alpha-Hydroxylase Deficiency 76
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 25
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Combined 17-Hydroxylase/17,20-Lyase Deficiency 59
17-Alpha-Hydroxylase/17,20-Lyase Deficiency 57
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Cah Due to 17-Alpha-Hydroxylase Deficiency 59
Steroid 17-Alpha-Monooxygenase Deficiency 40
Adrenal Hyperplasia, Congenital, Type 5 73
17 Alpha Hydroxylase Deficiency 76
Isolated 17,20-Lyase Deficiency 6
Adrenal Hyperplasia Type V 75
Adrenal Hyperplasia 5 75
Ah-V 75
Ah5 75

Characteristics:

Orphanet epidemiological data:

59
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 53 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 hypertension and failure to thrive

Genetics Home Reference : 25 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 : 75 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 : 76 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 12)
# 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 malignant hypertension 10.0
11 amenorrhea 10.0
12 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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 59 32 frequent (33%) Frequent (79-30%) HP:0000822
2 failure to thrive 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0001508
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002750
4 short stature 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0004322
5 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000823
6 hypokalemia 59 32 frequent (33%) Frequent (79-30%) HP:0002900
7 osteoporosis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000939
8 cryptorchidism 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000028
9 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000786
10 hypospadias 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000047
11 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000815
12 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008187
13 decreased testicular size 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008734
14 decreased serum testosterone level 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0040171
15 hyperaldosteronism 59 32 frequent (33%) Frequent (79-30%) HP:0000859
16 gynecomastia 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000771
17 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002231
18 male pseudohermaphroditism 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000037
19 enlarged polycystic ovaries 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008675
20 generalized hyperpigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007440
21 micropenis 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000054
22 ambiguous genitalia, male 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0000033
23 dysmenorrhea 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0100607
24 increased circulating acth level 59 32 frequent (33%) Frequent (79-30%) HP:0003154
25 decreased circulating cortisol level 59 32 frequent (33%) Frequent (79-30%) HP:0008163
26 female external genitalia in individual with 46,xy karyotype 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0008730
27 adrenocorticotropic hormone excess 59 32 frequent (33%) Frequent (79-30%) HP:0011749
28 abnormal sex determination 59 32 occasional (7.5%) Occasional (29-5%),Occasional (29-5%) HP:0012244
29 hypoplasia of the uterus 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000013
30 decreased serum estradiol 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008214
31 decreased fertility in females 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0000868
32 decreased fertility in males 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0012041
33 primary gonadal insufficiency 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008193
34 abnormal ekg 59 32 frequent (33%) Frequent (79-30%) HP:0003115
35 sparse pubic hair 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002225
36 sparse axillary hair 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0002215
37 hypoplasia of the vagina 59 32 frequent (33%) Frequent (79-30%),Frequent (79-30%) HP:0008726
38 decreased circulating renin level 59 32 frequent (33%) Frequent (79-30%) HP:0003351
39 abnormality of creatine metabolism 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0012113
40 congenital adrenal hyperplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008258
41 hypervolemia 59 32 frequent (33%) Frequent (79-30%) HP:0011105
42 abnormal circulating aldosterone 59 32 frequent (33%) Frequent (79-30%) HP:0040085
43 reduced bone mineral density 59 Very frequent (99-80%),Very frequent (99-80%)
44 primary adrenal insufficiency 59 Occasional (29-5%)
45 polycystic ovaries 59 Very frequent (99-80%),Very frequent (99-80%)
46 decreased fertility 59 Very frequent (99-80%),Very frequent (99-80%)
47 ambiguous genitalia 32 HP:0000062
48 elevated follicle stimulating hormone 59 Very frequent (99-80%),Very frequent (99-80%)
49 elevated luteinizing hormone 59 Very frequent (99-80%),Very frequent (99-80%)
50 decreased circulating androgen level 59 Very frequent (99-80%),Very frequent (99-80%)

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:

41
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:

75 (show all 26)
# Symbol AA change Variation ID SNP ID
1 CYP17A1 p.Tyr64Ser VAR_001271
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
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
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 GRCh37 Chromosome 10, 104591267: 104591267
14 CYP17A1 NM_000102.3(CYP17A1): c.1241C> T (p.Pro414Leu) single nucleotide variant Likely pathogenic 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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