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

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

Name: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency 52
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 25 54 70
Deficiency of Steroid 17-Alpha-Monooxygenase 25 27
17,20-Lyase Deficiency, Isolated 52 12
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 54
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 52
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 25
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Combined 17-Hydroxylase/17,20-Lyase Deficiency 54
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
 
Cah Due to 17-Alpha-Hydroxylase Deficiency 54
Adrenal Hyperplasia, Congenital, Type 5 68
Congenital Adrenal Hyperplasia Type 5 25
17-Alpha-Hydroxylase Deficiency 25
Adrenal Hyperplasia Type V 70
Adrenal Hyperplasia V 25
Adrenal Hyperplasia 5 70
Ah-V 70
Ah5 70

Characteristics:

Orphanet epidemiological data:

54
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

64
17-alpha-hydroxylase/17,20-lyase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 202110
ICD10 via Orphanet31 E25.0, E29.1
MeSH39 D000312

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

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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 Array, Array and Array. 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 is Cytochrome P450 - arranged by substrate type. Affiliated tissues include ovary, testes and adrenal gland, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased shRNA abundance (Z-score < -2).

UniProtKB/Swiss-Prot:70 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:52 202110

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

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Graphical network of 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

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Symptoms by clinical synopsis from OMIM:

202110

Clinical features from OMIM:

202110

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

 54 64 (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus64 54 Very frequent (99-80%) HP:0000013
2 cryptorchidism64 54 Frequent (79-30%) HP:0000028
3 ambiguous genitalia, male64 54 Occasional (29-5%) HP:0000033
4 male pseudohermaphroditism64 54 Occasional (29-5%) HP:0000037
5 hypospadias64 54 Very frequent (99-80%) HP:0000047
6 micropenis64 54 Very frequent (99-80%) HP:0000054
7 polycystic ovaries54 Very frequent (99-80%)
8 decreased fertility54 Very frequent (99-80%)
9 gynecomastia64 54 Occasional (29-5%) HP:0000771
10 primary amenorrhea64 54 Very frequent (99-80%) HP:0000786
11 hypergonadotropic hypogonadism64 54 Very frequent (99-80%) HP:0000815
12 hypertension64 54 Frequent (79-30%) HP:0000822
13 delayed puberty64 54 Very frequent (99-80%) HP:0000823
14 primary adrenal insufficiency54 Occasional (29-5%)
15 delayed skeletal maturation64 54 Very frequent (99-80%) HP:0002750
16 hyperaldosteronism64 54 Frequent (79-30%) HP:0000859
17 decreased fertility in females64 54 Frequent (79-30%) HP:0000868
18 osteoporosis64 54 Very frequent (99-80%) HP:0000939
19 failure to thrive64 54 Occasional (29-5%) HP:0001508
20 short stature64 54 Frequent (79-30%) HP:0004322
21 sparse axillary hair64 54 Very frequent (99-80%) HP:0002215
22 sparse pubic hair64 54 Very frequent (99-80%) HP:0002225
23 sparse body hair64 54 Very frequent (99-80%) HP:0002231
24 hypokalemia64 54 Frequent (79-30%) HP:0002900
25 abnormal ekg64 54 Frequent (79-30%) HP:0003115
26 increased circulating acth level64 54 Frequent (79-30%) HP:0003154
27 decreased circulating renin level64 54 Frequent (79-30%) HP:0003351
28 reduced bone mineral density54 Very frequent (99-80%)
29 aortic root dilatation64 54 Frequent (79-30%) HP:0002616
30 generalized hyperpigmentation64 54 Frequent (79-30%) HP:0007440
31 decreased circulating cortisol level64 54 Frequent (79-30%) HP:0008163
32 absence of secondary sex characteristics64 54 Very frequent (99-80%) HP:0008187
33 primary gonadal insufficiency64 54 Very frequent (99-80%) HP:0008193
34 decreased serum estradiol64 54 Very frequent (99-80%) HP:0008214
35 elevated follicle stimulating hormone64 54 Very frequent (99-80%) HP:0008232
36 congenital adrenal hyperplasia64 54 Very frequent (99-80%) HP:0008258
37 female external genitalia in individual with 46,xy karyotype64 54 Occasional (29-5%) HP:0008730
38 hypoplasia of the vagina64 54 Frequent (79-30%) HP:0008726
39 enlarged polycystic ovaries64 54 Very frequent (99-80%) HP:0008675
40 decreased testicular size64 54 Frequent (79-30%) HP:0008734
41 hypervolemia64 54 Frequent (79-30%) HP:0011105
42 adrenocorticotropic hormone excess64 54 Frequent (79-30%) HP:0011749
43 elevated luteinizing hormone64 54 Very frequent (99-80%) HP:0011969
44 decreased fertility in males64 54 Frequent (79-30%) HP:0012041
45 abnormality of creatine metabolism64 54 Very frequent (99-80%) HP:0012113
46 abnormal sex determination64 54 Occasional (29-5%) HP:0012244
47 decreased circulating androgen level54 Very frequent (99-80%)
48 abnormal circulating aldosterone64 54 Frequent (79-30%) HP:0040085
49 decreased serum testosterone level64 54 Very frequent (99-80%) HP:0040171
50 dysmenorrhea64 54 Very frequent (99-80%) HP:0100607
51 ambiguous genitalia64 HP:0000062
52 adrenogenital syndrome64 HP:0000840
53 hypokalemic alkalosis64 HP:0001949
54 adrenal hyperplasia64 HP:0008221

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-1929.1CYB5A, POR
2GR00366-A-849.0CYP17A1, POR

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

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Interventional clinical trials:

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

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

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

id Genetic test Affiliating Genes
1 Deficiency of Steroid 17-Alpha-Monooxygenase27

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

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

36
Ovary, Testes, Adrenal gland, Kidney, Uterus, Bone

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

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

idTitleAuthorsYear
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

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

70 (show all 26)
id Symbol AA change Variation ID SNP ID
1CYP17A1p.Tyr64SerVAR_001271
2CYP17A1p.Ser106ProVAR_001272rs104894135
3CYP17A1p.Pro342ThrVAR_001274rs104894137
4CYP17A1p.Arg347HisVAR_001275rs61754278
5CYP17A1p.Arg358GlnVAR_001276rs104894139
6CYP17A1p.His373LeuVAR_001277rs760695410
7CYP17A1p.Arg440HisVAR_001278rs777638364
8CYP17A1p.Arg496CysVAR_001280
9CYP17A1p.Phe93CysVAR_013147rs104894146
10CYP17A1p.Pro35LeuVAR_022745
11CYP17A1p.Arg96TrpVAR_022746rs104894138
12CYP17A1p.Phe114ValVAR_022747rs104894147
13CYP17A1p.Asp116ValVAR_022748rs104894148
14CYP17A1p.Asn177AspVAR_022749
15CYP17A1p.Tyr329AspVAR_022750rs104894144
16CYP17A1p.Arg347CysVAR_022752rs104894149
17CYP17A1p.Arg362CysVAR_022753rs104894142
18CYP17A1p.Trp406ArgVAR_022754rs104894143
19CYP17A1p.Phe417CysVAR_022755rs104894140
20CYP17A1p.Pro428LeuVAR_022756rs104894145
21CYP17A1p.Arg496HisVAR_022757rs763398879
22CYP17A1p.Arg96GlnVAR_073043rs104894153
23CYP17A1p.Trp121ArgVAR_073044
24CYP17A1p.Ala174GluVAR_073045
25CYP17A1p.His373AsnVAR_073046
26CYP17A1p.Trp406LeuVAR_073047

Clinvar genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CYP17A1NM_ 000102.3(CYP17A1): c.1040G> A (p.Arg347His)SNVPathogenicrs61754278GRCh37Chr 10, 104592367: 104592367
2CYP17A1NM_ 000102.3(CYP17A1): c.1162A> T (p.Lys388Ter)SNVPathogenicrs1060499582GRCh37Chr 10, 104591346: 104591346

Expression for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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

Pathways for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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

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

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:00057839.3CYB5A, CYP17A1, POR
2endoplasmic reticulum membraneGO:00057899.2CYB5A, CYP17A1, POR
3mitochondrionGO:00057398.5CYB5A, CYP17A1, POR

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

idNameGO IDScoreTop Affiliating Genes
1oxidation-reduction processGO:00551148.5CYB5A, CYP17A1, POR

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

idNameGO IDScoreTop Affiliating Genes
1enzyme bindingGO:00198999.7CYB5A, POR
2heme bindingGO:00200379.0CYB5A, CYP17A1

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet