MCID: DSR001

Disordered Steroidogenesis malady

Summaries for Disordered Steroidogenesis

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22MalaCards
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MalaCards: Disordered Steroidogenesis is related to antley-bixler syndrome and synostosis. An important gene associated with Disordered Steroidogenesis is POR (P450 (cytochrome) oxidoreductase). The compounds nadph and erythromycin have been mentioned in the context of this disorder. Related mouse phenotypes are craniofacial and behavior/neurological.

Aliases & Descriptions for Disordered Steroidogenesis

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7diseasecard
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disordered steroidogenesis 7

Related Diseases for Disordered Steroidogenesis

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13GeneCards, 14GeneDecks
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Diseases related to disordered steroidogenesis by text searches and GeneDecks gene sharing:

(show all 32)
idRelated DiseaseScoreTop Affiliating Genes
1antley-bixler syndrome27.2POR, CYP17A1, CYCS, FGFR2
2synostosis12.8FGFR2, POR
317-alpha-hydroxylase/17,20-lyase deficiency12.7POR, CYP17A1
421-hydroxylase deficiency12.7POR, CYP17A1
5gynecomastia12.7CYP17A1, POR
6craniosynostosis12.7FGFR2, POR
7adrenal adenoma12.7CYP17A1, POR
8virilization12.7POR, CYP17A1
9hypospadias12.6FGFR2, CYP17A1
10addison's disease12.6POR, CYP17A1
11adrenal hyperplasia12.6CYP17A1, POR
12cushing's syndrome12.4CYP17A1, POR
13hereditary breast ovarian cancer12.3FGFR2, CYP17A1
14breast cancer12.3FGFR2, CYP17A1
15acne12.2FGFR2, CYP17A1
16chst3-related skeletal dysplasia12.2FGFR2, CYP17A1, POR
17breast cancer susceptibility12.0FGFR2, CYP17A1
18pandas11.9CYCS, CYP17A1, POR
19endometrial carcinoma11.8CYP17A1, CYCS, FGFR2
20epithelial ovarian cancer11.8FGFR2, CYCS, CYP17A1
21prostate carcinoma11.8CYP17A1, CYCS, FGFR2
22colon carcinoma11.8POR, CYCS, FGFR2
23breast carcinoma11.4POR, CYP17A1, CYCS, FGFR2
24pancreatic cancer11.3POR, CYP17A1, CYCS, FGFR2
25colon cancer11.3POR, CYP17A1, CYCS, FGFR2
26ovarian cancer11.3FGFR2, CYCS, CYP17A1, POR
27pancreatitis11.2FGFR2, CYCS, CYP17A1, POR
28lung carcinoma11.1POR, CYP17A1, CYCS, FGFR2
29antley-bixler syndrome-like with disordered steroidogenesis6.8
30antley-bixler syndrome with genital anomalies and disordered steroidogenesis6.8
31disordered steroidogenesis due to cytochrome p450 oxidoreductase6.8
32por deficiency6.8

Graphical network of the top 20 diseases related to disordered steroidogenesis:



Graphical network of diseases related to disordered steroidogenesis

Clinical Features for Disordered Steroidogenesis

Drugs & Therapeutics for Disordered Steroidogenesis

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
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Approved drugs:

Search CenterWatch for disordered steroidogenesis

Drug clinical trials:

Search ClinicalTrials for disordered steroidogenesis

Search NIH Clinical Center for disordered steroidogenesis

Search CenterWatch for disordered steroidogenesis

Genetic Tests for Disordered Steroidogenesis

Anatomical Context for Disordered Steroidogenesis

Phenotypes for genes affiliated with Disordered Steroidogenesis

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25MGI
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MGI Mouse Phenotypes related to disordered steroidogenesis:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1craniofacial phenotypeMP:00053828.6FGFR2, CYCS, POR
2behavior/neurological phenotypeMP:00053867.7FGFR2, CYCS, CYP17A1, POR

Publications for genes affiliated with Disordered Steroidogenesis

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35PubMed
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Articles related to disordered steroidogenesis:

idTitleAuthorsYearAffiliating Genes
1Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. (15793702)Huang N.... Miller W.L.2005FGFR2, POR, CYP17A1
2P450 oxidoreductase deficiency: a new disorder of steroidogenesis. (16467261)Miller W.L.... Agrawal V.2005FGFR2, POR, CYP17A1
3Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)Flueck C.E.... Miller W.L.2004POR
4P450 oxidoreductase deficiency: a new disorder of steroidogenesis affecting all microsomal P450 enzymes. (15666840)Pandey A.V.... Miller W.L.2004POR
5P450 oxidoreductase deficiency: a new disorder of steroidogenesis with multiple clinical manifestations. (15350602)Miller W.L.2004POR

Expression for genes affiliated with Disordered Steroidogenesis

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1BioGPS
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Expression patterns in normal tissues for genes affiliated with Disordered Steroidogenesis

Pathways for genes affiliated with Disordered Steroidogenesis

Compounds for genes affiliated with Disordered Steroidogenesis

Sources:
32Novoseek , 18HMDB, 9DrugBank, 34PharmGKB, 42Tocris Bioscience
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Compounds related to disordered steroidogenesis according to GeneDecks:

(show all 43)
idCompoundScoreTop Affiliating Genes
1nadph32 18 11.0CYCS
2erythromycin32 9 9 11.8POR, FGFR2
317-hydroxypregnenolone32 9.8CYP17A1, POR
4aminopyrine32 9.8POR, CYP17A1
517-hydroxyprogesterone32 18 10.7POR, CYP17A1
6androstane32 9.7POR, CYP17A1
7diethylstilbestrol32 9 9 11.7POR, CYP17A1
83beta-hydroxysteroid32 9.7CYP17A1, POR
9dhea32 9.6POR, CYP17A1
10androstenedione32 18 10.6POR, CYP17A1
112,6-dichlorophenolindophenol32 9.6CYCS, POR
12ferricyanide32 9.6CYCS, POR
13hydroquinone32 18 10.5POR, CYCS
14haem32 9.5POR, CYCS
15tetrahydrobiopterin32 9 18 9 12.5CYCS, POR
16flavin32 9.5POR, CYCS
17estrone32 9 18 9 12.5CYP17A1, POR
18diphenyleneiodonium32 9.5CYCS, POR
19xanthine32 18 10.5CYCS, POR
20menadione32 9 18 9 12.5CYCS, POR
21guanidine hydrochloride32 9.4POR, CYCS
22nifedipine32 9 9 11.4CYP17A1, POR
234-hydroxynonenal32 18 10.4POR, CYCS
2415-deoxy-delta-12,14-prostaglandin j232 9.3CYCS, CYP17A1
25dihydrotestosterone32 9 18 9 12.3CYP17A1, POR
26alpha tocopherol32 9.3CYCS, POR
27resveratrol32 9 18 9 12.2POR, CYCS
28vitamin d32 9.2POR, CYP17A1, FGFR2
29testosterone32 9 18 9 12.1FGFR2, CYP17A1, POR
30steroid32 9.0FGFR2, CYP17A1, POR
31arginine32 9.0POR, CYP17A1, FGFR2
32doxorubicin32 34 9 9 12.0FGFR2, CYCS, POR
33cisplatin32 34 9 9 12.0FGFR2, CYCS, POR
34Heme9 18 9 10.9CYCS, CYP17A1, POR
35oxygen32 18 9.9CYCS, CYP17A1, POR
36nadh32 9 18 9 11.9CYCS, CYP17A1, POR
37h2o232 8.9FGFR2, CYCS, POR
38pd 98,05932 8.9FGFR2, CYCS, CYP17A1
39quercetin32 42 9 18 9 12.8CYCS, POR
40estrogen32 8.7POR, CYP17A1, FGFR2
41retinoic acid32 42 18 10.5FGFR2, CYCS, CYP17A1
42cysteine32 8.4POR, CYP17A1, CYCS, FGFR2
43serine32 8.4FGFR2, CYCS, CYP17A1, POR

GO Terms for genes affiliated with Disordered Steroidogenesis

Sources:
12Gene Ontology
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Biological processes related to disordered steroidogenesis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of steroid hormone biosynthetic processGO:0900319.3CYP17A1, POR

Molecular functions related to disordered steroidogenesis according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1electron carrier activityGO:0090559.3CYP17A1, POR
2heme bindingGO:0200378.7CYCS, CYP17A1
3iron ion bindingGO:0055068.4CYCS, CYP17A1, POR

Sources for Disordered Steroidogenesis

2CDC
11FMA
18HMDB
19ICD9CM
20KEGG
24MeSH
25MGI
27NCIt
28NDF-RT
31NINDS
32Novoseek
33OMIM
35PubMed
36QIAGEN
43UMLS