MCID: 17L004
MIFTS: 44

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 50
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 24 52 68
Deficiency of Steroid 17-Alpha-Monooxygenase 24 25
17,20-Lyase Deficiency, Isolated 50 12
46,xy Disorder of Sex Development Due to Isolated 17,20-Lyase Deficiency 52
Adrenal Hyperplasia, Congenital, Due to 17-Alpha-Hydroxylase Deficiency 50
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 24
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 24
Combined 17-Hydroxylase/17,20-Lyase Deficiency 52
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 24
 
Cah Due to 17-Alpha-Hydroxylase Deficiency 52
Adrenal Hyperplasia, Congenital, Type 5 66
Congenital Adrenal Hyperplasia Type 5 24
17-Alpha-Hydroxylase Deficiency 24
Adrenal Hyperplasia Type V 68
Adrenal Hyperplasia V 24
Adrenal Hyperplasia 5 68
Ah-V 68
Ah5 68

Characteristics:

Orphanet epidemiological data:

52
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

62
17-alpha-hydroxylase/17,20-lyase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 202110
ICD10 via Orphanet29 E25.0, E29.1
MeSH37 D000312

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

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Genetics Home Reference:24 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. Affiliated tissues include ovary, testes and adrenal gland.

UniProtKB/Swiss-Prot:68 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:50 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 deficiency12.5
217-alpha-hydroxylase-deficient congenital adrenal hyperplasia12.3
3congenital adrenal hyperplasia10.1
4pseudohermaphroditism10.1
5adrenal adenoma10.1
6adenoma10.1
7first-degree atrioventricular block9.4CYP17A1, POR
8dfna2 nonsyndromic hearing loss9.1CYP17A1, POR
9spastic paraplegia 45, autosomal recessive8.9CYB5A, CYP17A1, POR
10weill-marchesani syndrome8.8CYB5A, 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

Symptoms:

 52 (show all 50)
  • hypoplasia of the uterus
  • cryptorchidism
  • ambiguous genitalia, male
  • male pseudohermaphroditism
  • hypospadias
  • micropenis
  • polycystic ovaries
  • decreased fertility
  • gynecomastia
  • primary amenorrhea
  • hypergonadotropic hypogonadism
  • hypertension
  • delayed puberty
  • primary adrenal insufficiency
  • delayed skeletal maturation
  • hyperaldosteronism
  • decreased fertility in females
  • osteoporosis
  • failure to thrive
  • short stature
  • sparse axillary hair
  • sparse pubic hair
  • sparse body hair
  • hypokalemia
  • abnormal ekg
  • increased circulating acth level
  • decreased circulating renin level
  • reduced bone mineral density
  • aortic root dilatation
  • generalized hyperpigmentation
  • decreased circulating cortisol level
  • absence of secondary sex characteristics
  • primary gonadal insufficiency
  • decreased serum estradiol
  • elevated follicle stimulating hormone
  • congenital adrenal hyperplasia
  • female external genitalia in individual with 46,xy karyotype
  • hypoplasia of the vagina
  • enlarged polycystic ovaries
  • decreased testicular size
  • hypervolemia
  • adrenocorticotropic hormone excess
  • elevated luteinizing hormone
  • decreased fertility in males
  • abnormality of creatine metabolism
  • abnormal sex determination
  • decreased circulating androgen level
  • abnormal circulating aldosterone
  • decreased serum testosterone level
  • dysmenorrhea

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

(show all 8)
id Description Frequency HPO Source Accession
1 male pseudohermaphroditism HP:0000037
2 ambiguous genitalia HP:0000062
3 gynecomastia HP:0000771
4 primary amenorrhea HP:0000786
5 hypertension HP:0000822
6 adrenogenital syndrome HP:0000840
7 hypokalemic alkalosis HP:0001949
8 adrenal hyperplasia 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-Monooxygenase25

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:

34
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:

68 (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_001277
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_022755
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)single nucleotide variantPathogenicrs61754278GRCh37Chr 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
1mitochondrionGO:00057398.5CYB5A, CYP17A1, POR
2endoplasmic reticulum membraneGO:00057898.2CYB5A, 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:00900319.8CYP17A1, POR
2cellular response to gonadotropin stimulusGO:00713719.8CYP17A1, POR
3response to drugGO:00424939.3CYP17A1, POR
4oxidation-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:00198999.1CYB5A, 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
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet