MCID: 17L004
MIFTS: 43

17-Alpha-Hydroxylase/17,20-Lyase Deficiency 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 51
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 25 53 69
Deficiency of Steroid 17-Alpha-Monooxygenase 25 26
17,20-Lyase Deficiency, Isolated 51 12
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 53
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 51
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 25
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
Combined 17-Hydroxylase/17,20-Lyase Deficiency 53
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 25
 
Cah Due to 17-Alpha-Hydroxylase Deficiency 53
Adrenal Hyperplasia, Congenital, Type 5 67
Congenital Adrenal Hyperplasia Type 5 25
17-Alpha-Hydroxylase Deficiency 25
Adrenal Hyperplasia Type V 69
Adrenal Hyperplasia V 25
Adrenal Hyperplasia 5 69
Ah-V 69
Ah5 69

Characteristics:

Orphanet epidemiological data:

53
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

63
17-alpha-hydroxylase/17,20-lyase deficiency:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM51 202110
ICD10 via Orphanet30 E25.0, E29.1
MeSH38 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). Affiliated tissues include ovary, testes and adrenal gland.

UniProtKB/Swiss-Prot:69 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:51 202110

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

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

idRelated DiseaseScoreTop Affiliating Genes
117-alpha-hydroxylase deficiency12.4
217-alpha-hydroxylase-deficient congenital adrenal hyperplasia12.2
3pseudohermaphroditism10.0
4adrenal adenoma10.0
5adenoma10.0
6first-degree atrioventricular block9.5CYP17A1, POR
7dfna2 nonsyndromic hearing loss9.2CYP17A1, POR
8spastic paraplegia 45, autosomal recessive8.9CYB5A, CYP17A1, POR

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



Diseases related to 17-alpha-hydroxylase/17,20-lyase deficiency

Symptoms 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:

 53 63 (show all 54)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus53 Very frequent (99-80%)
2 cryptorchidism53 Frequent (79-30%)
3 ambiguous genitalia, male53 Occasional (29-5%)
4 male pseudohermaphroditism63 53 Occasional (29-5%) HP:0000037
5 hypospadias53 Very frequent (99-80%)
6 micropenis53 Very frequent (99-80%)
7 polycystic ovaries53 Very frequent (99-80%)
8 decreased fertility53 Very frequent (99-80%)
9 gynecomastia63 53 Occasional (29-5%) HP:0000771
10 primary amenorrhea63 53 Very frequent (99-80%) HP:0000786
11 hypergonadotropic hypogonadism53 Very frequent (99-80%)
12 hypertension63 53 Frequent (79-30%) HP:0000822
13 delayed puberty53 Very frequent (99-80%)
14 primary adrenal insufficiency53 Occasional (29-5%)
15 delayed skeletal maturation53 Very frequent (99-80%)
16 hyperaldosteronism53 Frequent (79-30%)
17 decreased fertility in females53 Frequent (79-30%)
18 osteoporosis53 Very frequent (99-80%)
19 failure to thrive53 Occasional (29-5%)
20 short stature53 Frequent (79-30%)
21 sparse axillary hair53 Very frequent (99-80%)
22 sparse pubic hair53 Very frequent (99-80%)
23 sparse body hair53 Very frequent (99-80%)
24 hypokalemia53 Frequent (79-30%)
25 abnormal ekg53 Frequent (79-30%)
26 increased circulating acth level53 Frequent (79-30%)
27 decreased circulating renin level53 Frequent (79-30%)
28 reduced bone mineral density53 Very frequent (99-80%)
29 aortic root dilatation53 Frequent (79-30%)
30 generalized hyperpigmentation53 Frequent (79-30%)
31 decreased circulating cortisol level53 Frequent (79-30%)
32 absence of secondary sex characteristics53 Very frequent (99-80%)
33 primary gonadal insufficiency53 Very frequent (99-80%)
34 decreased serum estradiol53 Very frequent (99-80%)
35 elevated follicle stimulating hormone53 Very frequent (99-80%)
36 congenital adrenal hyperplasia53 Very frequent (99-80%)
37 female external genitalia in individual with 46,xy karyotype53 Occasional (29-5%)
38 hypoplasia of the vagina53 Frequent (79-30%)
39 enlarged polycystic ovaries53 Very frequent (99-80%)
40 decreased testicular size53 Frequent (79-30%)
41 hypervolemia53 Frequent (79-30%)
42 adrenocorticotropic hormone excess53 Frequent (79-30%)
43 elevated luteinizing hormone53 Very frequent (99-80%)
44 decreased fertility in males53 Frequent (79-30%)
45 abnormality of creatine metabolism53 Very frequent (99-80%)
46 abnormal sex determination53 Occasional (29-5%)
47 decreased circulating androgen level53 Very frequent (99-80%)
48 abnormal circulating aldosterone53 Frequent (79-30%)
49 decreased serum testosterone level53 Very frequent (99-80%)
50 dysmenorrhea53 Very frequent (99-80%)
51 ambiguous genitalia63 HP:0000062
52 adrenogenital syndrome63 HP:0000840
53 hypokalemic alkalosis63 HP:0001949
54 adrenal hyperplasia63 HP:0008221

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-Monooxygenase26

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:

35
Ovary, Testes, Adrenal gland, Kidney, Uterus, Bone

Animal Models for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency or affiliated genes

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

69 (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

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 reticulum membraneGO:00057898.5CYB5A, CYP17A1, POR
2mitochondrionGO:00057398.2CYB5A, CYP17A1, POR

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of steroid hormone biosynthetic processGO:009003110.0CYP17A1, POR
2cellular response to gonadotropin stimulusGO:00713719.9CYP17A1, POR
3response to drugGO:00424939.3CYP17A1, POR
4oxidation-reduction processGO:00551148.7CYB5A, 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:00198999.1CYB5A, 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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet