MCID: 17L004
MIFTS: 41

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 49
Congenital Adrenal Hyperplasia Due to 17-Alpha-Hydroxylase Deficiency 23 51 67
Deficiency of Steroid 17-Alpha-Monooxygenase 23 24
17,20-Lyase Deficiency, Isolated 49 11
17-Alpha-Hydroxylase-Deficient Congenital Adrenal Hyperplasia 23
Combined 17 Alpha-Hydroxylase/17,20-Lyase Deficiency 23
Combined 17-Hydroxylase/17,20-Lyase Deficiency 51
17 Alpha-Hydroxylase/17,20-Lyase Deficiency 23
Cah Due to 17-Alpha-Hydroxylase Deficiency 51
 
Adrenal Hyperplasia, Congenital, Type 5 65
Congenital Adrenal Hyperplasia Type 5 23
17-Alpha-Hydroxylase Deficiency 23
Adrenal Hyperplasia Type V 67
Adrenal Hyperplasia 5 67
Adrenal Hyperplasia V 23
Ah-V 67
Ah5 67

Characteristics:

Orphanet epidemiological data:

51
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy,Neonatal

HPO:

61
17-alpha-hydroxylase/17,20-lyase deficiency:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 202110
Orphanet51 90793
ICD10 via Orphanet28 E25.0
MeSH36 D000312
UMLS65 C0268285

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

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Genetics Home Reference:23 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 adrenal hyperplasia, hypokalemic alkalosis and adrenogenital syndrome. 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 are Phase II conjugation and cytochrome P450. Affiliated tissues include testes, adrenal gland and kidney, and related mouse phenotype limbs/digits/tail.

UniProtKB/Swiss-Prot:67 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:49 202110

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

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

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Symptoms by clinical synopsis from OMIM:

202110

Clinical features from OMIM:

202110

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

(show all 8)
id Description Frequency HPO Source Accession
1 adrenal hyperplasia HP:0008221
2 hypokalemic alkalosis HP:0001949
3 adrenogenital syndrome HP:0000840
4 hypertension HP:0000822
5 primary amenorrhea HP:0000786
6 gynecomastia HP:0000771
7 ambiguous genitalia HP:0000062
8 male pseudohermaphroditism HP:0000037

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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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:

33
Testes, Adrenal gland, Kidney, Ovary, Breast

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

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MGI Mouse Phenotypes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.5CYP17A1, POR

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
Proliferation and progesterone receptor status in benign meningiomas are not age dependent. (15952201)
2005
2
The menopause, hormone replacement therapy and breast cancer. (12650709)
2002

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:

67 (show all 26)
id Symbol AA change Variation ID SNP ID
1CYP17A1p.Tyr64SerVAR_001271
2CYP17A1p.Ser106ProVAR_001272
3CYP17A1p.Pro342ThrVAR_001274
4CYP17A1p.Arg347HisVAR_001275
5CYP17A1p.Arg358GlnVAR_001276
6CYP17A1p.His373LeuVAR_001277
7CYP17A1p.Arg440HisVAR_001278
8CYP17A1p.Arg496CysVAR_001280
9CYP17A1p.Phe93CysVAR_013147
10CYP17A1p.Pro35LeuVAR_022745
11CYP17A1p.Arg96TrpVAR_022746
12CYP17A1p.Phe114ValVAR_022747
13CYP17A1p.Asp116ValVAR_022748
14CYP17A1p.Asn177AspVAR_022749
15CYP17A1p.Tyr329AspVAR_022750rs104894144
16CYP17A1p.Arg347CysVAR_022752
17CYP17A1p.Arg362CysVAR_022753
18CYP17A1p.Trp406ArgVAR_022754
19CYP17A1p.Phe417CysVAR_022755
20CYP17A1p.Pro428LeuVAR_022756
21CYP17A1p.Arg496HisVAR_022757
22CYP17A1p.Arg96GlnVAR_073043
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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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:00900319.5CYP17A1, POR
2xenobiotic metabolic processGO:00068059.1CYP17A1, POR

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet