ABS
MCID: ANT003

Antley-bixler Syndrome malady

Summaries for Antley-bixler Syndrome

Sources:
6Disease Ontology, 33OMIM, 22MalaCards
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Export this MalaCard
Disease Ontology: An autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the fgfr2 gene.6

MalaCards: Antley-bixler Syndrome, also known as antley bixler syndrome, is related to disordered steroidogenesis and radioulnar synostosis. An important gene associated with Antley-bixler Syndrome is POR (P450 (cytochrome) oxidoreductase), and among its related pathways are Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics and Estrogen Metabolism Pathway. The compounds aminopyrine and 7-ethoxycoumarin have been mentioned in the context of this disorder. Related mouse phenotypes are cardiovascular system and homeostasis/metabolism.

OMIM: 207410

Aliases & Descriptions for Antley-bixler Syndrome

Sources:
6Disease Ontology, 33OMIM, 8DISEASES, 32Novoseek , 43UMLS, 30NIH Rare Diseases, 16GeneTests, 24MeSH
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Aliases & Descriptions:

antley-bixler syndrome 6 33 8 32 43
antley bixler syndrome 30 16
multisynostotic osteodysgenesis with long bone fractures 30
osteodysgenesis, multisynostotic with fractures 30
trapezoidocephaly- mulitple synostosis syndrome 16
trapezoidocephaly-synostosis syndrome 6
trapezoidocephaly synostosis syndrome 30
abs 30

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Related Diseases for Antley-bixler Syndrome

Sources:
13GeneCards, 14GeneDecks
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Diseases related to antley-bixler syndrome by text searches and GeneDecks gene sharing:

(show top 50)    (show all 244)
idRelated DiseaseScoreTop Affiliating Genes
1disordered steroidogenesis32.2FGFR2, CYCS, CYP17A1, POR
2radioulnar synostosis31.5FGFR1, FGFR2, FGFRL1
3adrenal hyperplasia31.4CYP17A1, CYP19A1, CYP21A2, POR, POMC
4synostosis30.9FGFR1, FGFR2, FGFRL1, CYP51A1, POR
5virilization30.1CYP17A1, CYP19A1, CYP21A2, POR, POMC
6cockayne syndrome29.2FGFR1, FGFR2
7breast cancer28.1FGFR2, CYP1A2, CYP1B1, CYP3A4, CYP2C19, CYP17A1
8pancreatic cancer26.3FGFR1, FGFR2, CYP1A2, CYP1B1, CYP2A6, CYCS
9hodgkin's lymphoma25.7FGFR1, CYP1A2, CYP1B1, CYP3A4, CYP2C19, CYCS
10colon carcinoma25.4FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYCS
11polycystic ovary syndrome25.4CYP17A1, CYP19A1, CYP21A2, POR, POMC
12arthritis25.4FGFR1, FGFR2, CYP1A2, CYP3A4, CYP2C19, CYCS
13pancreatitis24.9FGFR1, FGFR2, CYP1A2, CYP1B1, CYP2A6, CYCS
14parkinson's disease24.2CYP1A2, CYP3A4, CYP2B6, CYP2C19, CYCS
15neuronitis24.2FGFR1, FGFR2, CYB5A, CYP1A2, CYP1B1, CYP2A6
16colon cancer24.1FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYP2A6
17hypoxia24.1CYB5A, CYP1A2, CYP1B1, CYP2B6, CYP2C19, CYCS
18glioblastoma24.0FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYCS
19obesity24.0FGFR1, CYB5A, CYP1A2, CYP3A4, CYP2A6, CYP2C19
20colorectal cancer23.9FGFR1, FGFR2, CYP51A1, CYP1A2, CYP1B1, CYP3A4
21hypercholesterolemia23.7CYP1B1, CYP3A4, CYP3A43, CYP2A6, CYP2B6, CYP2C19
22rheumatoid arthritis23.6FGFR1, FGFR2, CYP1A2, CYP3A4, CYP2C19, CYCS
23malaria22.9CYB5A, CYP1B1, CYP3A4, CYP3A43, CYP2A6, CYP2B6
24ovarian cancer22.8FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYP2A6
25carcinoma22.6FGFR1, FGFR2, CYB5A, CYP1A2, CYP1B1, CYP3A4
26asthma22.4FGFR1, CYP1A2, CYP1B1, CYP3A4, CYP2C19, CYCS
27leukemia22.3FGFR1, FGFR2, CYP51A1, CYP1A2, CYP1B1, CYP3A4
28gastric cancer22.0FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYP2A6
29prostatitis21.8FGFR1, FGFR2, CYP51A1, CYP1A2, CYP1B1, CYP3A4
30breast carcinoma21.8FGFR1, FGFR2, CYP1A2, CYP1B1, CYP3A4, CYP2C19
31tuberculosis21.5CYP51A1, CYP1A2, CYP3A4, CYP3A43, CYP2A6, CYP2B6
32hepatocellular carcinoma19.5FGFR1, FGFR2, CYB5A, CYP1A2, CYP1B1, CYP3A4
33hepatitis19.4CYB5A, CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6
34jackson-weiss syndrome13.5FGFR1, FGFR2
35fgfr-related craniosynostosis syndromes13.5FGFR1, FGFR2
36osteoglophonic dysplasia13.5FGFR1, FGFR2
37muenke syndrome13.5FGFR1, FGFR2
38precocious puberty, male13.5CYP19A1, CYP21A2
393-beta-hydroxysteroid dehydrogenase deficiency13.5CYP17A1, CYP21A2
40testicular leydig cell tumor13.5CYP19A1, CYP21A2
41plagiocephaly13.4FGFR1, FGFR2
42transsexualism13.4CYP17A1, CYP19A1, CYP21A2
43delayed puberty13.3FGFR1, CYP17A1, CYP19A1
44autoimmune polyendocrine syndrome type 113.3CYP1A2, CYP17A1, CYP21A2
45chst3-related skeletal dysplasia13.3FGFR1, FGFR2, CYP17A1, POR
46uterine fibroid13.3CYP17A1, CYP19A1, CYP21A2
47mycetoma13.2CYP1B1, CYP17A1, CYP19A1
48craniosynostosis13.2FGFR1, FGFR2, FGFRL1, POR
49crouzon syndrome13.1FGFR1, FGFR2
50acrocephalosyndactylia13.0FGFR1, FGFR2

Graphical network of the top 20 diseases related to antley-bixler syndrome:



Graphical network of diseases related to antley-bixler syndrome

Clinical Features for Antley-bixler Syndrome

Sources:
33OMIM
See all sources
Clinical features from OMIM: 207410

Drugs & Therapeutics for Antley-bixler Syndrome

Sources:
4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT
See all sources

Approved drugs:

Search CenterWatch for antley-bixler syndrome

Drug clinical trials:

Search ClinicalTrials for antley-bixler syndrome

Search NIH Clinical Center for antley-bixler syndrome

Search CenterWatch for antley-bixler syndrome

Genetic Tests for Antley-bixler Syndrome

Anatomical Context for Antley-bixler Syndrome

Phenotypes for genes affiliated with Antley-bixler Syndrome

Sources:
25MGI
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MGI Mouse Phenotypes related to antley-bixler syndrome:

25
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1cardiovascular system phenotypeMP:00053857.5FGFR1, POMC, POR, NSDHL, CYP19A1, CYCS
2homeostasis/metabolism phenotypeMP:00053767.4CYP17A1, CYP19A1, NSDHL, POR, CYP1B1, CYP1A2
3behavior/neurological phenotypeMP:00053867.3POMC, POR, NSDHL, CYP19A1, CYP17A1, CYCS

Publications for genes affiliated with Antley-bixler Syndrome

Sources:
35PubMed
See all sources

Articles related to antley-bixler syndrome:

(show all 21)
idTitleAuthorsYearAffiliating Genes
1Cytochrome P450 oxidoreductase deficiency with Antley -Bixler syndrome: steroidogenic capacities. (19618668)Iijima S.... Ohzeki T.2009POMC, CYP17A1, CYP21A2
2A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. (18853185)Ko J.M.... Yoo H.W.2009POR, CYP21A2
3Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)Kranendonk M.... Rueff J.2008POR, CYP1A2
4Antley-Bixler syndrome or POR deficiency? (18630181)Tomkova M.... Martasek P.2008POR
5P450 oxidoreductase deficiency and Antley-Bixler syndrome. (17960482)Arlt W.2007POR
6Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. (16998238)Marohnic C.C.... Masters B.S.2006POR
7Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. (16906539)Williamson L.... Braddock S.R.2006POR
8Diversity 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
9Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (15483095)Fukami M.... Ogata T.2005POR, CYP19A1, CYP17A1
10Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. (15266606)Cragun D.L.... Hopkin R.J.2004POR, CYP51A1, CYB5A
11Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)Flueck C.E.... Miller W.L.2004POR
12Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)Adachi M.... Oka A.2004POR, CYP51A1
13Abnormal steroidogenesis in three patients with Antley-Bixler syndrome: apparent decreased activity of 17alpha-hydroxylase, 17,20-lyase and 21-hydroxylase. (15491389)Adachi M.... Shackleton C.2004CYP21A2, CYP51A1
14Antley-Bixler syndrome with radioulnar synostosis. (14513299)Hurley M.E.... Kelleher J.2004FGFR1
15Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. (15316970)Shackleton C.... Hauffa B.P.2004POR, CYP19A1
16Biochemical diagnosis of Antley-Bixler syndrome by steroid analysis. (15216541)Shackleton C.... Arlt W.2004FGFR2, CYP21A2
17Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)Tsai F.J.... Tsai C.H.2001FGFR2
18Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (10633130)Reardon W.... Winter R.M.2000FGFR2
19Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)Roth C.... Lakomek M.2000CYP21A2
20Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)Warmann S.... Fuchs J.2000CYP21A2
21FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. (9605588)Chun K.... Ray P.N.1998FGFR2

Expression for genes affiliated with Antley-bixler Syndrome

Sources:
1BioGPS
See all sources
Expression patterns in normal tissues for genes affiliated with Antley-bixler Syndrome

Pathways for genes affiliated with Antley-bixler Syndrome

Sources:
34PharmGKB, 41Thomson Reuters, 10EMD Millipore, 20KEGG, 38Reactome
See all sources

Pathways related to antley-bixler syndrome according to GeneDecks:

(show top 50)    (show all 57)
idPathwayScoreTop Affiliating Genes
1Zidovudine Pathway, Pharmacokinetics/Pharmacodynamics3410.4POR
2Estrogen Metabolism Pathway349.8CYP19A1, CYP1B1, CYP1A2
3Erlotinib Pathway, Pharmacokinetics349.6CYP3A5, CYP3A4, CYP1A2
4Theophylline Pathway, Pharmacokinetics349.6CYP1A2, CYP3A4
5Nevirapine Pathway, Pharmacokinetics349.5CYP3A5, CYP2B6, CYP3A4
6Caffeine Pathway, Pharmacokinetics349.5CYP2A6, CYP3A4, CYP1A2
7Taxane Pathway, Pharmacokinetics349.5CYP3A5, CYP3A4, CYP1B1
8Benzo[a]pyrene metabolism419.5CYP3A4, CYP1B1, CYP1A2
9Benzo[a]pyrene metabolism109.5CYP3A4, CYP1B1, CYP1A2
10Acetaminophen metabolism419.4CYP2A6, CYP3A4, CYP1A2
11Acetaminophen metabolism109.4CYP2A6, CYP3A4, CYP1A2
12Drug metabolism - other enzymes209.3CYP3A5, CYP2A6, CYP3A43, CYP3A4
13Estrogen biosynthesis109.3CYP3A4, CYP2C19, CYP19A1
14Estrogen biosynthesis419.2CYP3A4, CYP2C19, CYP19A1
152-Naphthylamine and 2-Nitronaphtalene metabolism419.2CYP2B6, CYP3A4, CYP1A2
16Naphthalene metabolism419.2CYP2A6, CYP3A4, CYP1A2
17Fluoxetine Pathway, Pharmacokinetics349.2CYP3A5, CYP2C19, CYP3A4
18Ifosfamide Pathway, Pharmacokinetics349.2CYP3A5, CYP2B6, CYP2A6, CYP3A4
19Artemisinin and Derivatives Pathway, Pharmacokinetics349.2CYP3A5, CYP2B6, CYP2A6, CYP3A4
20Imipramine/Desipramine Pathway, Pharmacokinetics349.2CYP2C19, CYP3A4, CYP1A2
21Clomipramine Pathway, Pharmacokinetics349.2CYP2C19, CYP3A4, CYP1A2
22Gefitinib Pathway, Pharmacokinetics349.2CYP3A5, CYP2C19, CYP3A4
23Warfarin Pathway, Pharmacokinetics349.1CYP2C19, CYP3A4, CYP1A2
24Naphthalene metabolism109.1CYP2A6, CYP3A4, CYP1A2
25Fluvastatin Pathway, Pharmacokinetics349.1CYP3A5, CYP2C19, CYP3A4
26Atorvastatin/Lovastatin/Simvastatin Pathway, Pharmacokinetics349.0CYP3A5, CYP2C19, CYP3A4
27Androstenedione and testosterone biosynthesis and metabolism p.1419.0CYP3A4, CYP2C19, CYP17A1, CYP3A5
28Statin Pathway - Generalized, Pharmacokinetics349.0CYP3A4, CYP2C19, CYP3A5
29Steroid hormone biosynthesis208.9CYP3A5, CYP21A2, CYP19A1, CYP17A1, CYP3A43, CYP3A4
30Benzodiazepine Pathway, Pharmacokinetics348.9CYP3A5, CYP2C19, CYP3A4, CYP1A2
31Imatinib Pathway, Pharmacokinetics/Pharmacodynamics348.9CYP3A5, CYP2C19, CYP3A4, CYP1A2
32Estrone metabolism418.8CYP3A5, CYP2C19, CYP3A4, CYP1A2
33Estrone metabolism108.8CYP3A5, CYP2C19, CYP3A4, CYP1A2
34Proton Pump Inhibitor Pathway, Pharmacokinetics348.8CYP3A4, CYP2C19
35Androstenedione and testosterone biosynthesis and metabolism p.1108.7CYP3A4, CYP2C19, CYP17A1, CYP3A5, CYP1A2
36Estradiol metabolism418.5CYP3A5, CYP2C19, CYP1A2, CYP1B1, CYP3A4
37Estradiol metabolism108.5CYP1A2, CYP1B1, CYP3A4, CYP2C19, CYP3A5
38Clopidogrel Pathway, Pharmacokinetics348.4CYP3A5, CYP2C19, CYP2B6, CYP3A4, CYP1A2
39Tamoxifen Pathway, Pharmacokinetics348.4CYP3A5, CYP2C19, CYP2B6, CYP3A4, CYP1A2
40Cyclophosphamide Pathway, Pharmacokinetics348.4CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A4
41Linoleic acid metabolism208.3CYP2J2, CYP3A5, CYP2C19, CYP3A43, CYP3A4, CYP1A2
42Carbamazepine Pathway, Pharmacokinetics348.0CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1A2
43Phenytoin Pathway, Pharmacokinetics348.0CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1A2
44Metabolism of xenobiotics by cytochrome P450207.8CYP3A5, CYP2C19, CYP2B6, CYP3A43, CYP3A4, CYP1B1
45Retinol metabolism207.8CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A43, CYP3A4
46Drug metabolism - cytochrome P450207.8CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A43, CYP3A4
47Retinol metabolism107.7CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1B1
48Retinol metabolism417.7CYP3A5, CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1B1
49Biological oxidations387.5CYP1B1, CYP2J2, CYP3A5, CYP2C19, CYP2B6, CYP2A6
50Metabolic pathways206.4NSDHL, CYP2J2, CYP3A5, CYP21A2, CYP19A1, CYP17A1

Compounds for genes affiliated with Antley-bixler Syndrome

Sources:
32Novoseek , 9DrugBank, 42Tocris Bioscience, 18HMDB, 34PharmGKB
See all sources

Compounds related to antley-bixler syndrome according to GeneDecks:

(show top 50)    (show all 449)
idCompoundScoreTop Affiliating Genes
1aminopyrine32 8.7CYB5A, POR, CYP1A2, CYP2A6, CYP2B6, CYP17A1
27-ethoxycoumarin32 8.6POR, CYB5A, CYP1A2, CYP2B6, CYP1B1, CYP2A6
3benzphetamine32 9 9 10.2CYP2B6, CYB5A, CYP1A2, CYP3A4, CYP2A6, POR
4metyrapone32 42 9 9 11.1CYP1A2, CYP2B6, CYP21A2, POMC, POR, CYP3A4
5aflatoxin b132 18 9.0CYB5A, CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6
6lauric acid32 8.0CYB5A, CYP1A2, CYP1B1, CYP2A6, CYP2B6, CYP2C19
7pentoxyresorufin32 7.9CYB5A, CYP1A2, CYP3A4, CYP2A6, CYP2B6, CYP2C19
8alpha-naphthoflavone32 7.8CYP2A6, CYP2B6, CYP2C19, POR, CYP3A4, CYP1B1
9bufuralol32 9 9 9.8POR, CYP2C19, CYP1A2, CYP1B1, CYP3A4, CYP2A6
10miconazole32 9 9 9.7CYP51A1, CYP3A4, CYP2A6, CYP2B6, CYP2C19, CYP19A1
11androstane32 7.6CYP1A2, POR, CYP3A5, CYP17A1, CYP2C19, CYP2B6
12troleandomycin32 9 9 9.6POR, CYP3A5, CYP2C19, CYP2B6, CYP1A2, CYP3A4
13rifampin34 9 9 9.6CYP3A43, CYP1A2, CYP3A4, CYP2A6, CYP2B6, CYP2C19
14beta-naphthoflavone32 9 9 9.5CYB5A, CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6
15clotrimazole32 9 18 9 10.5CYP51A1, CYP1A2, CYP2B6, CYP2A6, CYP3A4, CYP2C19
16aminoglutethimide32 9 9 9.5CYP21A2, POMC, CYP2C19, CYP3A4, CYP1A2, CYP19A1
17ethoxyresorufin32 7.5CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6, CYP2C19
18methadone32 34 9 9 10.4CYP3A5, CYP19A1, CYP2C19, CYP2B6, CYP3A4, CYP1A2
19coumarin32 18 8.4CYP3A5, CYP2C19, CYB5A, CYP1A2, CYP1B1, CYP3A4
20tolbutamide32 34 9 9 10.3CYP2C19, CYP3A4, CYP3A5, CYB5A, CYP1A2, CYP2A6
21erythromycin32 9 9 9.3CYP2A6, CYP2B6, CYP2C19, CYP3A5, POR, CYP3A4
22epoxide32 7.2CYP2C19, CYP2J2, POR, CYP2B6, CYP2A6, CYP3A4
23chlorzoxazone32 9 9 9.2CYB5A, CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6
24nifedipine32 9 9 9.1CYP3A5, CYB5A, CYP1A2, CYP3A4, CYP17A1, CYP2A6
25fluconazole32 9 9 9.1CYP51A1, CYP3A4, CYP2A6, CYP2B6, CYP2C19, CYP19A1
26midazolam32 9 9 8.9CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6, CYP2C19
27paraxanthine32 18 7.6CYP2A6, CYP2B6, CYP2C19, CYP4X1, CYP19A1, CYP3A5
28linoleic acid32 18 7.6CYP1A2, CYP1B1, CYP3A4, CYP3A43, CYP2A6, CYP2B6
29tamoxifen32 34 9 9 9.6CYB5A, CYP19A1, CYP3A5, CYP17A1, CYP2C19, CYP2B6
306-hydroxymelatonin32 18 7.6CYP1A2, CYP1B1, CYP3A4, CYP3A43, CYP2A6, CYP2B6
31citalopram32 34 9 18 9 10.6CYP3A4, CYP3A43, CYP2A6, CYP2B6, CYP2C19, CYP4X1
32parathion32 18 7.6CYP2J2, CYP1A2, CYP1B1, CYP3A4, CYP3A43, CYP2A6
33codeine32 34 9 18 9 10.6CYP2J2, CYP3A5, CYP19A1, CYP1A2, CYP1B1, CYP3A4
34Formic Acid9 18 9 8.4CYP51A1, CYP1A2, CYP1B1, CYP3A4, CYP3A43, CYP2A6
35estrone32 9 18 9 9.3CYP1B1, CYP3A4, CYP3A43, CYP2A6, CYP2B6, CYP2C19
36ketoconazole32 42 9 18 9 10.3CYP1A2, CYP1B1, CYP3A4, CYP2A6, CYP2B6, CYP2C19
37steroid32 6.1CYP17A1, CYP21A2, FGFR1, POR, CYP2C19, CYP2B6
38arachidonic acid32 9 18 9 9.1FGFR2, CYB5A, CYP1A2, CYP1B1, CYP3A4, CYP3A43
39oxygen32 18 7.1CYP17A1, CYP21A2, CYP3A5, CYP2J2, NSDHL, POR
40progesterone32 42 9 18 9 10.1CYP19A1, CYP17A1, CYP3A5, CYP21A2, CYP1B1, FGFR1
41formaldehyde32 18 7.0CYP3A43, CYP2A6, CYP2B6, CYP2C19, CYP4X1, CYP19A1
42caffeine32 34 9 18 9 9.9CYP1A2, CYP1B1, CYP4X1, CYP2C19, CYP2A6, CYP3A43
43estradiol32 9 18 9 8.9CYP19A1, CYP21A2, CYP3A5, POMC, CYP1A2, CYP1B1
44valproic acid32 34 9 18 9 9.9CYP19A1, CYP3A5, CYP2J2, POMC, CYP4X1, CYP2C19
45nadph32 18 6.7CYP2A6, CYP2B6, CYP2C19, CYCS, CYP4X1, CYP21A2
46dexamethasone32 42 34 9 9 9.6CYP1B1, POMC, CYP3A4, CYP3A43, CYP2A6, CYP2C19
47retinoic acid32 42 18 7.4FGFR1, FGFR2, CYP4X1, CYP1A2, CYP1B1, CYP3A4
48androstenedione32 18 6.1CYB5A, CYP1A2, CYP1B1, CYP3A4, POMC, POR
49Heme9 18 9 7.0CYP3A4, CYP3A43, CYP2A6, CYP2B6, CYP2C19, CYCS
50testosterone32 9 18 9 7.7CYP19A1, CYP21A2, CYP3A5, CYP2J2, POR, POMC

GO Terms for genes affiliated with Antley-bixler Syndrome

Sources:
12Gene Ontology
See all sources

Cellular components related to antley-bixler syndrome according to GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intracellular membrane-bounded organelleGO:0432317.6NSDHL, CYP3A5, CYP2C19, CYP2B6, CYP3A4, CYP1A2
2endoplasmic reticulum membraneGO:0057894.6CYB5A, POR, NSDHL, CYP2J2, CYP3A5, CYP21A2

Biological processes related to antley-bixler syndrome according to GeneDecks:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of steroid hormone biosynthetic processGO:09003110.4POR, CYP17A1
2fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.4FGFR2, FGFR1
3ventricular zone neuroblast divisionGO:02184710.3FGFR2, FGFR1
4phthalate metabolic processGO:01896310.3CYP19A1, CYP17A1
5biphenyl metabolic processGO:01887910.3CYP19A1, CYP17A1
6positive regulation of phospholipase activityGO:01051810.2FGFR2, FGFR1
7response to herbicideGO:00963510.2CYP19A1, CYP17A1
8lung-associated mesenchyme developmentGO:06048410.1FGFR1, FGFR2
9glucocorticoid biosynthetic processGO:00670410.1CYP21A2, CYP17A1
10dibenzo-p-dioxin metabolic processGO:01889410.1CYP19A1, CYP17A1, CYP1A2
11cellular response to follicle-stimulating hormone stimulusGO:07137210.0CYP19A1, POR
12alkaloid catabolic processGO:0098229.8CYP3A5, CYP3A4
13mesenchymal cell differentiationGO:0487629.8FGFR2, FGFR1
14steroid catabolic processGO:0067069.8CYP1A2, CYP3A4
15drug catabolic processGO:0427379.6CYP3A5, CYP3A4, CYP1A2
16oxidative demethylationGO:0709899.6CYP1A2, CYP3A4, CYP3A5
17heterocycle metabolic processGO:0464839.1CYP2C19, CYP3A4, CYP1A2
18monoterpenoid metabolic processGO:0160989.1CYP2C19, CYP3A4, CYP1A2
19exogenous drug catabolic processGO:0427388.3CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1A2
20drug metabolic processGO:0171448.3CYP2C19, CYP2B6, CYP2A6, CYP3A4, CYP1A2
21oxidation-reduction processGO:0551148.1POR, CYP2C19, CYP2B6, CYP3A4, CYP1B1, CYP1A2
22steroid metabolic processGO:0082027.7CYP3A5, CYP21A2, CYP19A1, CYP17A1, CYP2C19, CYP2B6
23xenobiotic metabolic processGO:0068056.2CYP2J2, CYP51A1, CYP1A2, CYP1B1, CYP3A4, CYP3A43
24small molecule metabolic processGO:0442814.6POMC, NSDHL, CYP2J2, CYB5A, CYP51A1, CYP1A2

Molecular functions related to antley-bixler syndrome according to GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.0FGFRL1, FGFR2, FGFR1
2fibroblast growth factor bindingGO:0171349.8FGFR1, FGFR2, FGFRL1
3caffeine oxidase activityGO:0348759.6CYP1A2, CYP3A4
4steroid hydroxylase activityGO:0083959.0CYP21A2, CYP2C19, CYP3A4
5aromatase activityGO:0703308.6CYP2J2, CYP3A5, CYP19A1, CYP4X1, CYP3A43, CYP1B1
6oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprGO:0167128.4CYP1B1, CYP3A4, CYP2A6, CYP2B6, CYP19A1, CYP1A2
7oxygen bindingGO:0198258.2CYP3A5, CYP19A1, CYP17A1, CYP2C19, CYP3A4, CYP1B1
8oxidoreductase activityGO:0164918.2CYP3A5, CYP2C19, CYP3A4, CYP1A2
9enzyme bindingGO:0198998.0CYB5A, CYP1A2, CYP3A4, CYP2A6, CYP2C19, POR
10monooxygenase activityGO:0044977.5CYP3A5, CYP2C19, CYP2B6, CYP3A43, CYP3A4, CYP1B1
11electron carrier activityGO:0090555.7POR, CYP1A2, CYP51A1, CYP1B1, CYP3A4, CYP3A43
12iron ion bindingGO:0055065.2CYP4X1, CYCS, CYP2C19, CYP2B6, CYP2A6, CYP3A43
13heme bindingGO:0200375.1CYP2J2, CYP3A5, CYP21A2, CYP19A1, CYP17A1, CYP4X1

Sources for Antley-bixler Syndrome

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