MCID: 17L004
MIFTS: 35

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

Reproductive diseases, Endocrine diseases, Fetal diseases categories

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

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46OMIM, 32MalaCards
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MalaCards: 17-Alpha-Hydroxylase/17,20-Lyase Deficiency, also known as congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency, is related to congenital adrenal hyperplasia and 17-alpha-hydroxylase deficiency. An important gene associated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency is CYP17A1 (cytochrome P450, family 17, subfamily A, polypeptide 1), and among its related pathways is Cytochrome P450 - arranged by substrate type. The compounds 21-deoxycortisol and acth 1-24 have been mentioned in the context of this disorder.

Description from OMIM:46 202110

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

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46OMIM, 48Orphanet, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Reproductive diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency:
Inheritance: Autosomal recessive; Prevalence: 1-9/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

17-alpha-hydroxylase/17,20-lyase deficiency 46
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 48
cah due to 17-alpha-hydroxylase deficiency 48


External Ids:

SNOMED-CT via Orphanet57 124220008
OMIM46 202110
ICD10 via Orphanet26 E25.0

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

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17GeneCards, 18GeneDecks
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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

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

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46OMIM
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Clinical features from OMIM:

202110

Clinical synopsis from OMIM:

202110

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

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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

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62UniProtKB/Swiss-Prot
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Genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

62 (show all 21)
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

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

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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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53Reactome, 37NCBI BioSystems Database
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Pathways related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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9.0CYP17A1, POR

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

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Sources:
44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank, 49PharmGKB, 59Tocris Bioscience, 2BitterDB
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Compounds related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards/GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
121-deoxycortisol44 2410.8CYP17A1, POMC
2acth 1-24449.7POMC, CYP17A1
3doca449.7POMC, CYP17A1
411 deoxycortisol449.7POMC, CYP17A1
511beta-hydroxysteroid449.7POMC, CYP17A1
6dehydroepiandrosterone sulfate449.7CYP17A1, POMC
7ketoconazole44 28 11 2412.7CYP17A1, POMC
8carbamazepine44 49 1111.7CYP17A1, POMC
9metformin44 49 1111.7POMC, CYP17A1
10progestin449.6POMC, CYP17A1
11corticosterone44 59 2411.6POMC, CYP17A1
12metyrapone59 44 1111.5POMC, POR
13fluconazole44 1110.5POR, POMC
14methimazole44 2 1111.5POR, POMC
15acth449.5CYP17A1, POMC
16midazolam44 49 1111.5POR, POMC
17gnrh449.5CYP17A1, POMC
18aminopyrine449.4CYP17A1, POR
19pentoxyresorufin44 5910.4CYP17A1, POR
20androstane449.4CYP17A1, POR
21haloperidol44 28 2 49 1113.4POMC, POR
22diethylstilbestrol44 28 1111.4CYP17A1, POR
23ribonucleic acid449.3CYP17A1, POMC
24estrone44 28 11 2412.3CYP17A1, POR
25nifedipine44 49 28 1112.3POR, CYP17A1
26dihydrotestosterone44 28 11 2412.3CYP17A1, POR
27carbon449.3CYP17A1, POR
28heme28 11 2411.2POR, CYP17A1
29epinephrine44 11 2411.2POMC, POR
30ascorbic acid44 2410.0POR, POMC
31nadh44 11 2411.0CYP17A1, POR
3217-hydroxypregnenolone448.9CYP17A1, POMC, POR
3317-hydroxyprogesterone44 249.9POR, POMC, CYP17A1
343beta-hydroxysteroid448.9CYP17A1, POMC, POR
35dhea448.9POR, POMC, CYP17A1
36androstenedione44 249.9CYP17A1, POMC, POR
37testosterone44 59 11 2411.9CYP17A1, POMC, POR
38steroid448.9POR, POMC, CYP17A1
39dexamethasone44 49 28 1111.9CYP17A1, POMC, POR
40arginine448.8CYP17A1, POMC, POR
41estrogen448.8CYP17A1, POMC, POR
42vitamin d448.7CYP17A1, POR
43serine448.6POR, POMC, CYP17A1

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

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16Gene Ontology
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Biological processes related to 17-Alpha-Hydroxylase/17,20-Lyase Deficiency according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1response to drugGO:0424939.0CYP17A1, POR
2positive regulation of steroid hormone biosynthetic processGO:0900318.7CYP17A1, POR

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

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.0CYP17A1, POR
2iron ion bindingGO:0055068.7CYP17A1, POR

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet