Classical pathway of steroidogenesis, including diseases (Homo sapiens)

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1232Lipoid adrenal hyperplasia11β-HSD2PORP450c21POR5α-Reductase211β-HSD1CortisoneCytb5Progesterone18-hydroxycorticosteroneOestradiolCorticosterone Methyl Oxidase II17-HydroxypregnenoloneAndrostenedioneTestosteronePORDeoxycorticosteroneAldosterone17-HydroxyprogesteroneDHEAH-6-PDHP450c17PregnenoloneCorticosteroneCortisolCholesterol3β-HSDP450scc17β-HSD311-DeoxycortisolCorticosterone Methyl Oxidase IDihydrotestosteroneP450AroSTAR3β-HSDP450c11P450c17P450c173β-HSDCholesterol side-chain cleavage deficiency17-Alpha-hydroxylase / 17-lyase deficiency3β-HSD type II21-Hydroxylase deficiency11β-hydroxylase type I deficiencyCorticosterone methyl oxidase deficiencyCortisone reductase deficiencyApparent mineralocorticoid excess17β-HSD deficiency5α-reductase type II deficiencyAromatase deficiencyP450 oxidoreductase deficiency3β-HSD type II


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Bibliography

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  1. Makridakis NM, di Salle E, Reichardt JK; ''Biochemical and pharmacogenetic dissection of human steroid 5 alpha-reductase type II.''; Pharmacogenetics, 2000 PubMed Europe PMC
  2. Parsa AA, New MI; ''Steroid 21-hydroxylase deficiency in congenital adrenal hyperplasia.''; J Steroid Biochem Mol Biol, 2017 PubMed Europe PMC
  3. Mindnich R, Haller F, Halbach F, Moeller G, Hrabé de Angelis M, Adamski J; ''Androgen metabolism via 17beta-hydroxysteroid dehydrogenase type 3 in mammalian and non-mammalian vertebrates: comparison of the human and the zebrafish enzyme.''; J Mol Endocrinol, 2005 PubMed Europe PMC
  4. Yong AB, Montalto J, Pitt J, Oakes S, Preston T, Buchanan C; ''Corticosterone methyl oxidase type II (CMO II) deficiency: biochemical approach to diagnosis.''; Clin Biochem, 1994 PubMed Europe PMC
  5. Patel BG, Rudnicki M, Yu J, Shu Y, Taylor RN; ''Progesterone resistance in endometriosis: origins, consequences and interventions.''; Acta Obstet Gynecol Scand, 2017 PubMed Europe PMC
  6. Strushkevich N, MacKenzie F, Cherkesova T, Grabovec I, Usanov S, Park HW; ''Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system.''; Proc Natl Acad Sci U S A, 2011 PubMed Europe PMC
  7. Kuribayashi I, Nomoto S, Massa G, Oostdijk W, Wit JM, Wolffenbuttel BH, Shizuta Y, Honke K; ''Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele.''; Horm Res, 2005 PubMed Europe PMC
  8. Palmisano BT, Zhu L, Stafford JM; ''Role of Estrogens in the Regulation of Liver Lipid Metabolism.''; Adv Exp Med Biol, 2017 PubMed Europe PMC
  9. Baquedano MS, Ciaccio M, Marino R, Perez Garrido N, Ramirez P, Maceiras M, Turjanski A, Defelipe LA, Rivarola MA, Belgorosky A; ''A novel missense mutation in the HSD3B2 gene, underlying nonsalt-wasting congenital adrenal hyperplasia. new insight into the structure-function relationships of 3β-hydroxysteroid dehidrogenase type II.''; J Clin Endocrinol Metab, 2015 PubMed Europe PMC
  10. Blau, Nenad, Duran, Marinus, Gibson, K, Michael, Dionisi-Vici, Carlo; ''Physician's Guidee to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Disease'''; ISBN 978-3-64240337-8, 2014
  11. Katsumata N; ''Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.''; Clin Pediatr Endocrinol, 2007 PubMed Europe PMC
  12. Mendonca BB, Gomes NL, Costa EM, Inacio M, Martin RM, Nishi MY, Carvalho FM, Tibor FD, Domenice S; ''46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.''; J Steroid Biochem Mol Biol, 2017 PubMed Europe PMC
  13. Pang S, Wang W, Rich B, David R, Chang YT, Carbunaru G, Myers SE, Howie AF, Smillie KJ, Mason JI; ''A novel nonstop mutation in the stop codon and a novel missense mutation in the type II 3beta-hydroxysteroid dehydrogenase (3beta-HSD) gene causing, respectively, nonclassic and classic 3beta-HSD deficiency congenital adrenal hyperplasia.''; J Clin Endocrinol Metab, 2002 PubMed Europe PMC
  14. Lawson AJ, Walker EA, Lavery GG, Bujalska IJ, Hughes B, Arlt W, Stewart PM, Ride JP; ''Cortisone-reductase deficiency associated with heterozygous mutations in 11beta-hydroxysteroid dehydrogenase type 1.''; Proc Natl Acad Sci U S A, 2011 PubMed Europe PMC
  15. Unal E, TaÅŸ FF, Demir V, Onay H, Haspolat YK; ''Aromatase Deficiency due to a Novel Mutation inCYP19A1Gene''; J Clin Res Pediatr Endocrinol, 2018 PubMed Europe PMC
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History

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CompareRevisionActionTimeUserComment
108086view11:53, 28 November 2019FehrhartOntology Term : 'disease pathway' added !
104251view12:05, 12 May 2019EgonwRemoved the RHEA: prefix from the identifier.
104033view17:45, 25 April 2019IreneHemelModified description
103565view09:57, 15 March 2019ElineSandersChanged geneproducts into proteins
103497view14:17, 6 March 2019DeSlModified description
103496view14:14, 6 March 2019DeSlRemoved weird signs in lit. ref (second try).
103402view09:45, 27 February 2019DeSlRemoved weird signs in lit. ref; changed long OMIM links to short ones.
103345view12:55, 22 February 2019DeSlConnected unconnected line to P450c17
103344view12:54, 22 February 2019DeSlUpdated OMIM for Aromatase deficiency (was linked to gene iso disease before).
103343view12:51, 22 February 2019DeSlOntology Term : 'pseudohermaphroditism' added !
103342view12:47, 22 February 2019DeSlOntology Term : 'congenital adrenal hyperplasia' added !
103341view12:45, 22 February 2019DeSlOntology Term : 'congenital adrenal hyperplasia pathway' added !
103340view12:44, 22 February 2019DeSlOntology Term : 'apparent mineralocorticoid excess syndrome pathway' added !
103339view12:43, 22 February 2019DeSlOntology Term : 'lipoid congenital adrenal hyperplasia pathway' added !
103338view12:43, 22 February 2019DeSlOntology Term : 'congenital adrenal insufficiency' added !
103337view12:42, 22 February 2019DeSlChanged Omim for Cholesterol side-chain cleavage deficiency to correct one (previous OMIM was for gene, not for disease).
103336view12:36, 22 February 2019DeSlOntology Term : 'apparent mineralocorticoid excess syndrome' added !
103335view12:36, 22 February 2019DeSlOntology Term : 'apparent mineralocorticoid excess' added !
103334view12:36, 22 February 2019DeSlOntology Term : 'cortisone reductase deficiency' added !
103320view10:38, 22 February 2019ElineSanderschanged label
103318view10:04, 22 February 2019ElineSandersAdded Rhea identifiers to reactions and changed the H6PD conversion. Also changed some CheBI identifiers which were in the secondary form according to Jenskin
103290view15:38, 21 February 2019ElineSanders
103268view10:56, 20 February 2019ElineSandersnew annotation for some metabolites
103267view10:19, 20 February 2019ElineSanderschanged CMO lines and added Rhea
103248view10:31, 18 February 2019ElineSandersOntology Term : 'C19-steroid hormone biosynthetic pathway' added !
103247view10:30, 18 February 2019ElineSandersOntology Term : 'steroid biosynthetic pathway' added !
103244view10:13, 18 February 2019ElineSandersannotation to H6PD
103242view09:51, 18 February 2019ElineSandersModified description
103238view09:12, 18 February 2019ElineSandersAdded some diseases, rhea to cortisol reaction and pathway reference
103217view15:18, 17 February 2019DeSlChanged arrows for diseases to graphical lines; small layout changes.
103196view15:36, 15 February 2019IngebudeIdentified Cyt 5b
103175view14:48, 15 February 2019ElineSandersI added references to the diseases and some Rhea's to the catalysation reactions
103153view13:05, 15 February 2019ElineSandersModified description
103152view13:04, 15 February 2019ElineSandersModified title
103151view13:03, 15 February 2019ElineSandersModified title
103150view13:02, 15 February 2019ElineSandersNew pathway

External references

DataNodes

View all...
NameTypeDatabase referenceComment
11-DeoxycortisolMetaboliteCHEBI:28324 (ChEBI)
11β-HSD1GeneProductENSG00000117594 (Ensembl)
11β-HSD2GeneProductENSG00000176387 (Ensembl)
17-HydroxypregnenoloneMetaboliteQ2064889 (Wikidata)
17-HydroxyprogesteroneMetaboliteHMDB00374 (HMDB)
17β-HSD3GeneProductENSG00000130948 (Ensembl)
18-hydroxycorticosteroneMetaboliteCHEBI:16485 (ChEBI)
3β-HSDGeneProductENSG00000203859 (Ensembl)
5α-Reductase2GeneProductENSG00000277893 (Ensembl)
AldosteroneMetaboliteCHEBI:2563 (ChEBI)
AndrostenedioneMetaboliteCHEBI:2709 (ChEBI)
CholesterolMetaboliteCHEBI:3659 (ChEBI)
Corticosterone Methyl Oxidase IGeneProductENSG00000179142 (Ensembl)
Corticosterone Methyl Oxidase IIGeneProductENSG00000179142 (Ensembl)
CorticosteroneMetaboliteCHEBI:16827 (ChEBI)
CortisolMetaboliteCHEBI:3893 (ChEBI)
CortisoneMetaboliteCHEBI:3896 (ChEBI)
Cytb5GeneProduct
DHEAMetaboliteCHEBI:1723 (ChEBI)
DeoxycorticosteroneMetaboliteHMDB00016 (HMDB)
DihydrotestosteroneMetaboliteCHEBI:41876 (ChEBI)
H-6-PDHProtein
OestradiolMetaboliteCHEBI:16469 (ChEBI)
P450AroGeneProductENSG00000137869 (Ensembl)
P450c11GeneProductENSG00000160882 (Ensembl)
P450c17GeneProductENSG00000148795 (Ensembl)
P450c21GeneProductENSG00000231852 (Ensembl)
P450sccGeneProductENSG00000140459 (Ensembl)
  • also known as CYP11A1
  • Type your comment here
PORProtein
PregnenoloneMetaboliteCHEBI:16581 (ChEBI)
ProgesteroneMetaboliteCHEBI:8453 (ChEBI)
STARGeneProductENSG00000147465 (Ensembl)
TestosteroneMetaboliteCHEBI:9461 (ChEBI)

Annotated Interactions

SourceTargetTypeDatabase referenceComment
11-DeoxycortisolCortisolmim-conversionRHEA:15630 (Rhea)
Corticosterone18-hydroxycorticosteronemim-conversionRHEA:11873 (Rhea)
DeoxycorticosteroneCorticosteronemim-conversionRHEA:15630 (Rhea)
PregnenoloneProgesteronemim-conversionRHEA:43929 (Rhea)
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