MCID: 17L004
MIFTS: 21

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

Reproductive, Endocrine, Fetal categories

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

Sources:
47OMIM, 33MalaCards
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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:47 202110

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

Sources:
47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
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 47
congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 49
cah due to 17-alpha-hydroxylase deficiency 49


External Ids:

OMIM47 202110
ICD10 via Orphanet26 E25.0

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

Sources:
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

Sources:
47OMIM
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Clinical features from OMIM:

202110

Clinical synopsis from OMIM:

202110

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

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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

Drug clinical trials:

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

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

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

Sources:
28inGenious Targeting Laboratory
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Publications for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency

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

Sources:
63UniProtKB/Swiss-Prot
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Genetic disease variations for 17-Alpha-Hydroxylase/17,20-Lyase Deficiency:

63 (show all 21)
id Symbol AA change Variation 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

Sources:
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

Sources:
54Reactome, 38NCBI 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
Hide members
9.0CYP17A1, POR

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

Sources:
45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 50PharmGKB, 60Tocris Bioscience, 2BitterDB
See all sources

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

(show all 43)
idCompoundScoreTop Affiliating Genes
121-deoxycortisol45 2410.8CYP17A1, POMC
2acth 1-24459.7POMC, CYP17A1
3doca459.7POMC, CYP17A1
411 deoxycortisol459.7POMC, CYP17A1
511beta-hydroxysteroid459.7POMC, CYP17A1
6dehydroepiandrosterone sulfate459.7CYP17A1, POMC
7ketoconazole45 29 11 2412.7CYP17A1, POMC
8carbamazepine45 50 1111.7CYP17A1, POMC
9metformin45 50 1111.7POMC, CYP17A1
10progestin459.6POMC, CYP17A1
11corticosterone45 60 2411.6POMC, CYP17A1
12metyrapone60 45 1111.5POMC, POR
13fluconazole45 1110.5POR, POMC
14methimazole45 2 1111.5POR, POMC
15acth459.5CYP17A1, POMC
16midazolam45 50 1111.5POR, POMC
17gnrh459.5CYP17A1, POMC
18aminopyrine459.4CYP17A1, POR
19pentoxyresorufin45 6010.4CYP17A1, POR
20androstane459.4CYP17A1, POR
21haloperidol45 29 2 50 1113.4POMC, POR
22diethylstilbestrol45 29 1111.4CYP17A1, POR
23ribonucleic acid459.3CYP17A1, POMC
24estrone45 29 11 2412.3CYP17A1, POR
25nifedipine45 50 29 1112.3POR, CYP17A1
26dihydrotestosterone45 29 11 2412.3CYP17A1, POR
27carbon459.3CYP17A1, POR
28heme29 11 2411.2POR, CYP17A1
29epinephrine45 11 2411.2POMC, POR
30ascorbic acid45 2410.0POR, POMC
31nadh45 11 2411.0CYP17A1, POR
3217-hydroxypregnenolone458.9CYP17A1, POMC, POR
3317-hydroxyprogesterone45 249.9POR, POMC, CYP17A1
343beta-hydroxysteroid458.9CYP17A1, POMC, POR
35dhea458.9POR, POMC, CYP17A1
36androstenedione45 249.9CYP17A1, POMC, POR
37testosterone45 60 11 2411.9CYP17A1, POMC, POR
38steroid458.9POR, POMC, CYP17A1
39dexamethasone45 50 29 1111.9CYP17A1, POMC, POR
40arginine458.8CYP17A1, POMC, POR
41estrogen458.8CYP17A1, POMC, POR
42vitamin d458.7CYP17A1, POR
43serine458.6POR, POMC, CYP17A1

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

Sources:
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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet