AH5
MCID: 17L004
MIFTS: 43

17-Alpha-Hydroxylase/17,20-Lyase Deficiency (AH5) malady

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

Aliases & Classifications for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Aliases & Descriptions for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

Name: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 54
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 25 56 66
Deficiency of Steroid 17-Alpha-Monooxygenase 25 29
17,20-Lyase Deficiency, Isolated 54 13
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 56
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 54
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 25
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Combined 17-Hydroxylase/17,20-Lyase Deficiency 56
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Cah Due to 17-Alpha-Hydroxylase Deficiency 56
Adrenal Hyperplasia, Congenital, Type 5 69
Congenital Adrenal Hyperplasia Type 5 25
17-Alpha-Hydroxylase Deficiency 25
Adrenal Hyperplasia Type V 66
Adrenal Hyperplasia V 25
Adrenal Hyperplasia 5 66
Ah-V 66
Ah5 66

Characteristics:

Orphanet epidemiological data:

56
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal;

HPO:

32
17-alpha-hydroxylase/17,20-lyase deficiency:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 202110
ICD10 via Orphanet 34 E25.0 E29.1
MeSH 42 D000312

Summaries for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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.

MalaCards based summary : 17-Alpha-Hydroxylase/17,20-Lyase Deficiency, also known as congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, is related to 17-alpha-hydroxylase deficiency and 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia, and has symptoms including hypertension, failure to thrive and delayed skeletal maturation. An important gene associated with 17-Alpha-Hydroxylase/17,20-Lyase 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, testes and kidney, and related phenotype is Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot : 66 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).

Description from OMIM: 202110

Related Diseases for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Diseases related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
id Related Disease Score Top Affiliating Genes
1 17-alpha-hydroxylase deficiency 12.4
2 17-alpha-hydroxylase-deficient congenital adrenal hyperplasia 12.2
3 congenital adrenal hyperplasia 10.0
4 pseudohermaphroditism 10.0
5 adrenal adenoma 10.0
6 adenoma 10.0
7 dyt1 early-onset isolated dystonia 9.8 CYP17A1 POR
8 bent bone dysplasia syndrome 9.8 CYP17A1 POR
9 second-degree atrioventricular block 9.8 CYP17A1 POR
10 epidemic typhus 9.8 CYP17A1 POR
11 jackson-weiss syndrome 9.7 CYP17A1 POR
12 papillorenal syndrome 9.6 CYB5A CYP17A1 POR

Graphical network of the top 20 diseases related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:



Diseases related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Symptoms & Phenotypes for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Symptoms by clinical synopsis from OMIM:

202110

Clinical features from OMIM:

202110

Human phenotypes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

56 32 (show top 50) (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertension 56 32 Frequent (79-30%) HP:0000822
2 failure to thrive 56 32 Occasional (29-5%),Occasional (29-5%) HP:0001508
3 delayed skeletal maturation 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002750
4 short stature 56 32 Frequent (79-30%),Frequent (79-30%) HP:0004322
5 delayed puberty 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000823
6 hypokalemia 56 32 Frequent (79-30%) HP:0002900
7 osteoporosis 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000939
8 cryptorchidism 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000028
9 primary amenorrhea 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000786
10 hypospadias 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000047
11 hypergonadotropic hypogonadism 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000815
12 absence of secondary sex characteristics 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008187
13 decreased testicular size 56 32 Frequent (79-30%),Frequent (79-30%) HP:0008734
14 decreased serum testosterone level 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0040171
15 hyperaldosteronism 56 32 Frequent (79-30%) HP:0000859
16 gynecomastia 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000771
17 sparse body hair 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002231
18 male pseudohermaphroditism 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000037
19 enlarged polycystic ovaries 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008675
20 generalized hyperpigmentation 56 32 Frequent (79-30%) HP:0007440
21 ambiguous genitalia, male 56 32 Occasional (29-5%),Occasional (29-5%) HP:0000033
22 micropenis 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000054
23 dysmenorrhea 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0100607
24 increased circulating acth level 56 32 Frequent (79-30%) HP:0003154
25 decreased circulating cortisol level 56 32 Frequent (79-30%) HP:0008163
26 elevated follicle stimulating hormone 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008232
27 female external genitalia in individual with 46,xy karyotype 56 32 Occasional (29-5%),Occasional (29-5%) HP:0008730
28 adrenocorticotropic hormone excess 56 32 Frequent (79-30%) HP:0011749
29 elevated luteinizing hormone 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0011969
30 abnormal sex determination 56 32 Occasional (29-5%),Occasional (29-5%) HP:0012244
31 hypoplasia of the uterus 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0000013
32 decreased serum estradiol 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008214
33 decreased fertility in females 56 32 Frequent (79-30%),Frequent (79-30%) HP:0000868
34 decreased fertility in males 56 32 Frequent (79-30%),Frequent (79-30%) HP:0012041
35 primary gonadal insufficiency 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0008193
36 sparse pubic hair 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002225
37 sparse axillary hair 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0002215
38 aortic root dilatation 56 32 Frequent (79-30%) HP:0002616
39 hypoplasia of the vagina 56 32 Frequent (79-30%),Frequent (79-30%) HP:0008726
40 abnormal ekg 56 32 Frequent (79-30%) HP:0003115
41 decreased circulating renin level 56 32 Frequent (79-30%) HP:0003351
42 abnormality of creatine metabolism 56 32 Very frequent (99-80%),Very frequent (99-80%) HP:0012113
43 congenital adrenal hyperplasia 56 32 Very frequent (99-80%) HP:0008258
44 hypervolemia 56 32 Frequent (79-30%) HP:0011105
45 abnormal circulating aldosterone 56 32 Frequent (79-30%) HP:0040085
46 reduced bone mineral density 56 Very frequent (99-80%),Very frequent (99-80%)
47 primary adrenal insufficiency 56 Occasional (29-5%)
48 polycystic ovaries 56 Very frequent (99-80%),Very frequent (99-80%)
49 decreased fertility 56 Very frequent (99-80%),Very frequent (99-80%)
50 ambiguous genitalia 32 HP:0000062

GenomeRNAi Phenotypes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-111 9.61 CYP17A1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 9.61 POR
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.61 POR
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.61 CYP17A1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.61 CYP17A1 POR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 9.61 POR
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-68 9.61 CYP17A1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 9.61 CYP17A1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.32 CYB5A
10 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.32 CYB5A
11 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.32 POR
12 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.32 CYB5A
13 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.32 CYB5A
14 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.32 POR CYB5A
15 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.32 POR
16 Increased shRNA abundance (Z-score > 2) GR00366-A-39 9.32 CYB5A
17 Increased shRNA abundance (Z-score > 2) GR00366-A-99 9.32 CYB5A

Drugs & Therapeutics for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Search Clinical Trials , NIH Clinical Center for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Genetic Tests for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Genetic tests related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

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

Anatomical Context for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

MalaCards organs/tissues related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

39
Ovary, Testes, Kidney, Adrenal Gland, Bone, Uterus

Publications for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Articles related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

id Title Authors Year
1
Gene symbol: CYp17, M19489. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency. ( 14552333 )
2003
2
Gene symbol: M19489, CYP17. Disease: 17-alpha-hydroxylase/17,20-lyase deficiency. ( 14552332 )
2003

Variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

UniProtKB/Swiss-Prot genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

66 (show all 26)
id 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 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CYP17A1 NM_000102.3(CYP17A1): c.1040G> A (p.Arg347His) single nucleotide variant Pathogenic rs61754278 GRCh37 Chromosome 10, 104592367: 104592367
2 CYP17A1 NM_000102.3(CYP17A1): c.1073G> A (p.Arg358Gln) single nucleotide variant Pathogenic rs104894139 GRCh37 Chromosome 10, 104592334: 104592334
3 CYP17A1 NM_000102.3(CYP17A1): c.1162A> T (p.Lys388Ter) single nucleotide variant Pathogenic rs1060499582 GRCh37 Chromosome 10, 104591346: 104591346

Expression for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Search GEO for disease gene expression data for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency.

Pathways for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

GO Terms for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

Cellular components related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.33 CYB5A CYP17A1 POR
2 endoplasmic reticulum GO:0005783 9.13 CYB5A CYP17A1 POR
3 endoplasmic reticulum membrane GO:0005789 8.8 CYB5A CYP17A1 POR

Biological processes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 8.8 CYB5A CYP17A1 POR

Molecular functions related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.96 CYB5A POR
2 heme binding GO:0020037 8.62 CYB5A CYP17A1

Sources for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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