ABS
MCID: ANT003
MIFTS: 54

Antley-Bixler Syndrome (ABS) malady

Bone diseases category

Summaries for Antley-Bixler Syndrome

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8Disease Ontology, 46OMIM, 32MalaCards
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Disease Ontology:8 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.

MalaCards: Antley-Bixler Syndrome, also known as antley bixler syndrome, is related to synostosis and cytochrome p450 oxidoreductase deficiency. An important gene associated with Antley-Bixler Syndrome is POR (P450 (cytochrome) oxidoreductase), and among its related pathways are Mineralocorticoid biosynthesis and Codeine and morphine metabolism. The compounds 17-hydroxypregnenolone and 17-hydroxyprogesterone have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are liver/biliary system and craniofacial.

Description from OMIM:46 201750,207410

Aliases & Classifications for Antley-Bixler Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 46OMIM, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Bone diseases


Aliases & Descriptions:

antley-bixler syndrome 8 10 44 60
antley bixler syndrome 42 20 22
multisynostotic osteodysgenesis with long bone fractures 42
osteodysgenesis, multisynostotic with fractures 42
trapezoidocephaly synostosis syndrome 42
trapezoidocephaly-synostosis syndrome 8
abs 42


External Ids:

Disease Ontology8 DOID:0050462
MeSH34 D054882

Related Diseases for Antley-Bixler Syndrome

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17GeneCards, 18GeneDecks
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Diseases related to Antley-Bixler Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 174)
idRelated DiseaseScoreTop Affiliating Genes
1synostosis30.9FGFR2, FGFR1
2cytochrome p450 oxidoreductase deficiency30.9POR
3congenital adrenal hyperplasia30.8POR, POMC, CYP19A1, CYP17A1, CYP21A2
4radioulnar synostosis30.4FGFRL1
5hepatitis30.1CYP2A6, CYP1A2
6thyroiditis29.9POMC
7ovarian cancer29.9FGFR2, CYCS, CYP17A1, CYP19A1, POR
8colorectal cancer29.9CYP1A2, CYP3A5, CYP17A1, CYP2A6, FGFR2, FGFR1
9parkinson's disease29.7CYP2D7P1
10adenocarcinoma29.7CYP1A2, CYP21A2, CYP2A6, FGFR2, FGFR1
11prostate cancer29.7FGFR1, FGFR2, CYCS, CYP17A1
12breast cancer29.7CYP1A2, CYP19A1, CYCS, FGFR2, FGFR1
13colon cancer29.7CYCS, CYP2A6, CYP17A1, CYP1A2, POR
14leukemia29.7POR, CYP1A2, CYP3A5, CYCS, CYP51A1, CYP2B6
15antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.7
16antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.5
17gm2-gangliosidosis, ab variant10.5
18luteoma10.5
19gangliosidosis10.4
20gangliosidosis gm210.4
21esophageal atresia10.3
22esophagitis10.3
23disordered steroidogenesis due to cytochrome p450 oxidoreductase10.3
24thymoma10.3
25glaucoma10.2
26thymoma type ab10.2
27amelanotic melanoma10.1
28cerebritis10.1
29tay-sachs disease ab variant10.1
30encephalomyelitis10.1
31melanoma10.1
32syphilis10.1
33yaws10.1
34malignant type ab thymoma10.1
35cataract10.1
36lupus erythematosus10.1
37open-angle glaucoma10.1
38prostatitis10.1
39gm2-gangliosidosis, b, b1, ab variant10.1
40candidiasis10.0CYP51A1
41autoimmune hepatitis10.0CYP2D7P1
42osteoglophonic dysplasia10.0FGFR1
43rheumatoid arthritis10.0CYP17A1
44aromatase excess syndrome10.0CYP19A1
45gynecomastia10.0CYP17A1, CYP19A1
46pseudohermaphroditism10.0CYP17A1, CYP19A1
47fgfr-related craniosynostosis syndromes10.0FGFR2, FGFR1
48jackson-weiss syndrome10.0FGFR2, FGFR1
49skin disease10.0POMC
50prion disease10.0POMC

Graphical network of the top 20 diseases related to Antley-Bixler Syndrome:



Diseases related to antley-bixler syndrome

Clinical Features for Antley-Bixler Syndrome

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46OMIM
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Clinical features from OMIM:

201750,207410

Drugs & Therapeutics for Antley-Bixler Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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20GeneTests, 22GTR
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Genetic tests related to Antley-Bixler Syndrome:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome20 22

Anatomical Context for Antley-Bixler Syndrome

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32MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome:

32
Bone

Animal Models for Antley-Bixler Syndrome or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Antley-Bixler Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.0FGFR2, CYB5A, CYP19A1, CYP1A2, POMC, POR
2MP:00053828.7POR, CYCS, CYP51A1, FGFR2, FGFR1, FGFRL1
3MP:00053908.7NSDHL, CYP19A1, CYCS, CYP51A1, FGFR2, FGFR1
4MP:00053768.1CYP1A2, POMC, POR, NSDHL, CYP19A1, CYP17A1
5MP:00053858.0FGFRL1, NSDHL, POR, POMC, CYP1A2, CYP19A1
6MP:00053868.0NSDHL, POR, POMC, CYP1A2, CYP19A1, CYP17A1

Publications for Antley-Bixler Syndrome

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50PubMed
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Articles related to Antley-Bixler Syndrome:

(show top 50)    (show all 73)
idTitleAuthorsYear
1
Conditional deletion of cytochrome p450 reductase in osteoprogenitor cells affects long bone and skull development in mice recapitulating antley-bixler syndrome: role of a redox enzyme in development. (24086598)
2013
2
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. (24334858)
2013
3
Altered human CYP3A4 activity caused by Antley-Bixler syndrome-related variants of NADPH-cytochrome P450 oxidoreductase measured in a robust in vitro system. (22252407)
2012
4
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (23295302)
2012
5
A case of antley-bixler syndrome. (24027687)
2012
6
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. (21146417)
2011
7
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (21868813)
2011
8
Spectrum of Antley-Bixler syndrome. (20818252)
2010
9
Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: steroidogenic capacities. (19618668)
2009
10
A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. (18853185)
2009
11
Foot anomalies in Antley-Bixler syndrome: three case reports. (19471176)
2008
12
Impairment of human CYP1A2-mediated xenobiotic metabolism by Antley-Bixler syndrome variants of cytochrome P450 oxidoreductase. (18455494)
2008
13
Anesthesia for an infant with Antley-Bixler syndrome. (17474961)
2007
14
Proximal femoral focal deficiency as a manifestation of Antley-Bixler syndrome: a case report. (17429125)
2007
15
Otologic findings in Antley-Bixler syndrome: a clinical and radiologic case report. (17482285)
2007
16
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. (16470797)
2006
17
Linking Antley-Bixler syndrome and congenital adrenal hyperplasia: a novel case of P450 oxidoreductase deficiency. (16906539)
2006
18
Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. (15483095)
2005
19
Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. (15793702)
2005
20
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. (15266606)
2004
21
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)
2004
22
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. (15547402)
2004
23
Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype. (15316970)
2004
24
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)
2004
25
Antley-Bixler syndrome with radioulnar synostosis. (14513299)
2004
26
Antley-Bixler syndrome: correction of facial deformities and long-term survival. (12618604)
2003
27
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (12116245)
2002
28
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. (11453978)
2001
29
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)
2001
30
Antley-Bixler syndrome: report of a case. (11149533)
2001
31
Antley-Bixler syndrome, description of two new cases and review of the literature. (11275784)
2001
32
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)
2000
33
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)
2000
34
Antley-Bixler syndrome associated with Arnold-Chiari malformation. (10914975)
2000
35
Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? (10633130)
2000
36
Not Antley-Bixler syndrome. (10076887)
1999
37
Antley-Bixler syndrome. Description of two new cases and a review of the literature. (9224917)
1997
38
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. (7774045)
1995
39
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. (7720741)
1995
40
Antley-Bixler syndrome: case report and review of the literature. (8588853)
1995
41
Antley-Bixler syndrome: report of a patient and review of literature. (7889649)
1994
42
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
43
Antley-Bixler syndrome. (1560511)
1992
44
The otolaryngologic manifestations of Antley-Bixler syndrome. (1848927)
1991
45
Antley-Bixler syndrome: description of two patients. (1896874)
1991
46
Picture of the month. Antley-Bixler syndrome. (2035500)
1991
47
Antley-Bixler syndrome from a prognostic perspective: report of a case and review of the literature. (3041834)
1988
48
Antley-Bixler syndrome in a sister and brother. (3448306)
1987
49
The first case of the Antley-Bixler syndrome with a consanguinity in Japan. (6672365)
1983
50
Prenatal ultrasound detection of humero-radial synostosis in a case of Antley-Bixler syndrome. (7145849)
1982

Genetic Variations for Antley-Bixler Syndrome

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Expression for genes affiliated with Antley-Bixler Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Antley-Bixler Syndrome

Search GEO for disease gene expression data for Antley-Bixler Syndrome.

Pathways for genes affiliated with Antley-Bixler Syndrome

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53Reactome, 37NCBI BioSystems Database, 49PharmGKB, 29KEGG, 12EMD Millipore
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Pathways related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show all 29)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
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10.1CYP17A1, CYP21A2
2
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9.9CYP2B6, CYP2D7P1
39.9CYP2A6, CYP19A1
4
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9.9CYP21A2, CYP17A1, CYP19A1
5
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9.9CYP3A5, CYP1A2
69.9FGFRL1, FGFR1, FGFR2
7
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9.8CYP2A6, CYP1A2
89.8CYP2J2, CYP17A1, CYP19A1
9
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9.8CYP2B6, CYP2A6
109.7CYP19A1, CYP17A1, CYP21A2, CYP51A1
11
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9.7CYP1A2, CYP19A1, CYP2J2
12
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9.6CYP4X1, CYP2A6
13
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9.5CYP1A2, CYP3A5, CYP2B6
14
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9.5CYP1A2, CYP2B6, CYP2J2
15
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9.5CYP1A2, CYP3A5, CYP2A6
16
Estrone metabolism
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9.5CYP1A2, CYP19A1, CYP3A5, CYP17A1
17
Acetaminophen metabolism
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9.5CYP2B6, CYP2A6, CYP1A2
189.3CYP2J2, CYP3A5, CYP3A43, CYP1A2
19
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9.2CYP2B6, CYP2A6, CYP4X1
20
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9.2CYP2B6, CYP2A6, CYP3A5, CYP1A2
21
Retinol metabolism
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9.2CYP1A2, CYP3A5, CYP2A6, CYP2B6
22
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9.1CYP2A6, CYP4X1, CYP1A2, POR
23
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9.1POR, CYP1A2, CYP4X1, CYP2A6
24
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9.0CYP3A43, CYP19A1, CYP3A5, CYP17A1, CYP21A2, CYP2A6
25
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8.9CYP1A2, CYP3A43, CYP3A5, CYP2A6, CYP2B6
26
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8.6CYP1A2, CYP3A43, CYP3A5, CYP2A6, CYP2B6, CYP2J2
27
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7.3CYP2B6, CYP51A1, CYP2A6, CYP21A2, CYP4X1, CYP17A1
28
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6.8NSDHL, CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP17A1
29
Hide members
6.8CYP2J2, POR, CYP1A2, CYP2B6, CYP51A1, CYP2A6

Compounds for genes affiliated with Antley-Bixler Syndrome

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44Novoseek, 24HMDB, 11DrugBank, 28IUPHAR, 59Tocris Bioscience, 49PharmGKB, 2BitterDB
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Compounds related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 285)
idCompoundScoreTop Affiliating Genes
117-hydroxypregnenolone449.6CYP21A2, CYB5A, CYP17A1, POMC, POR
217-hydroxyprogesterone44 2410.4POR, CYP21A2, POMC, CYP19A1, CYP17A1, CYB5A
37-ethoxycoumarin449.4CYB5A, CYP2B6, POR, CYP2A6, CYP1A2
4benzphetamine44 1110.3CYP2A6, CYP2B6, CYP1A2, POR, CYB5A
5aminopyrine449.3CYP17A1, CYP1A2, CYP2B6, POR, CYP2A6, CYB5A
6lauric acid44 2810.3CYP2B6, CYP2A6, CYP1A2, POR, CYB5A
7ethoxyresorufin449.2CYP2B6, POR, CYP1A2, CYP2A6, CYP3A5
83beta-hydroxysteroid449.2CYB5A, CYP19A1, POMC, NSDHL, CYP21A2, CYP17A1
9troleandomycin44 1110.1CYP3A5, CYP2B6, POR, CYP1A2, CYP3A43, CYP2A6
10chlorzoxazone44 28 1111.1CYP2A6, POR, CYP1A2, CYB5A, CYP2B6, CYP3A5
11androstane449.1CYP2B6, POR, CYP3A5, CYP2A6, CYP1A2, CYP17A1
12aflatoxin b144 2410.1CYP2A6, CYB5A, CYP3A5, CYP1A2, POR, CYP2B6
13metyrapone59 44 1111.1POR, POMC, CYP1A2, CYP21A2, CYP2A6, CYP2B6
14pentoxyresorufin44 5910.1POR, CYP2B6, CYP2A6, CYB5A, CYP17A1, CYP19A1
15imidazole449.1CYP2B6, CYCS, CYP19A1, CYB5A, CYP21A2, CYP51A1
16clotrimazole44 28 11 2412.1CYP1A2, CYP2B6, CYP51A1, CYP3A5, CYP2A6, CYP19A1
17dhea449.1CYP21A2, CYP19A1, CYB5A, CYP17A1, POR, CYP2B6
18p-nitrophenol44 1110.1POR, CYB5A, CYP2A6, CYP2B6, CYP1A2
19epoxide449.0CYB5A, CYP2J2, POR, CYP2B6, CYP1A2, CYP2A6
20erythromycin44 49 2 1112.0CYB5A, CYP3A5, FGFR2, CYP2B6, CYP2A6, POR
21fluconazole44 119.9CYP2B6, CYP51A1, CYP2A6, CYP3A5, CYP19A1, POMC
22rifampin49 119.9CYP2B6, CYP2A6, CYP3A5, CYP3A43, CYP1A2
23midazolam44 49 1110.9POR, CYP2A6, CYP2B6, CYP3A5, CYP1A2, POMC
24methadone44 49 1110.8POMC, CYP1A2, CYP19A1, CYP3A5, CYP2B6
25beta-naphthoflavone44 119.8CYP1A2, POR, CYB5A, CYP2A6, CYP2B6
26nifedipine44 49 28 1111.7CYB5A, CYP2B6, CYP3A5, POR, CYP17A1, CYP1A2
27tamoxifen44 49 28 1111.5FGFR2, CYP19A1, CYP3A5, CYP17A1, CYB5A, CYP2A6
28ketoconazole44 28 11 2411.4CYP2A6, CYP21A2, CYP17A1, CYP3A5, CYP19A1, CYP1A2
29citalopram49 44 11 2411.3CYP1A2, CYP2J2, CYP2B6, CYP2A6, CYP4X1, CYP3A5
30steroid448.3POR, CYP17A1, CYB5A, CYP19A1, CYP21A2, CYP51A1
31paraxanthine44 249.3CYP3A5, CYP19A1, CYP1A2, CYP2A6, CYP2B6, CYP2J2
326-hydroxymelatonin44 28 2410.3CYP2B6, CYP2A6, CYP4X1, CYP3A5, CYP19A1, CYP3A43
33parathion44 249.3CYP2J2, CYP2B6, CYP2A6, CYP4X1, CYP3A5, CYP19A1
34codeine44 49 28 11 2412.3CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP4X1, CYP2A6
35linoleic acid44 28 2410.2CYP4X1, CYP3A5, CYP19A1, CYP3A43, CYP2A6, CYP1A2
36progesterone44 59 28 11 2412.2FGFR2, CYP21A2, FGFR1, CYB5A, CYP17A1, CYP3A5
37Formic Acid11 249.1CYP2J2, CYP2B6, CYP51A1, CYP2A6, CYP4X1, CYP3A5
38dexamethasone44 49 28 1111.0CYP3A43, CYP2B6, CYP2A6, CYP21A2, CYP17A1, POR
39estrone44 28 11 2410.9CYP3A5, CYP19A1, CYP3A43, CYP1A2, POR, CYP17A1
40valproic acid44 49 11 2410.9CYP2J2, CYP2B6, CYP2A6, CYP4X1, CYP3A5, CYP19A1
41caffeine44 49 28 2 11 2412.9CYP3A43, CYP4X1, POMC, CYP1A2, CYP19A1, CYP3A5
42formaldehyde44 248.8POMC, CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP4X1
43arachidonic acid44 28 11 2410.8CYP2A6, CYP3A5, FGFR2, CYP3A43, CYP2J2, CYP4X1
44estradiol44 11 249.5CYP2J2, CYP3A43, CYP19A1, CYP1A2, CYP3A5, POMC
45retinoic acid44 248.2CYP3A5, CYP19A1, CYP3A43, CYP1A2, FGFR1, CYP17A1
46androstenedione44 248.1CYP3A43, CYP2J2, CYP2B6, CYP21A2, CYP4X1, CYB5A
47heme28 11 248.8CYP2J2, CYP2B6, CYP51A1, CYCS, POR, CYP1A2
48testosterone44 59 11 249.7CYP3A5, CYP17A1, CYB5A, CYP4X1, CYP21A2, CYP2A6
49oxygen44 247.7POR, CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP17A1
50nadph44 247.6NSDHL, CYCS, CYP51A1, CYP2B6, CYP2J2, CYP2A6

GO Terms for genes affiliated with Antley-Bixler Syndrome

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16Gene Ontology
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Cellular components related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1endoplasmic reticulumGO:0057839.3NSDHL, POR, CYP19A1, CYP17A1, CYP2B6
2intracellular membrane-bounded organelleGO:0432318.9CYP2B6, CYP3A5, CYP1A2, POR, NSDHL
3endoplasmic reticulum membraneGO:0057896.5CYP17A1, CYP1A2, CYP3A43, CYP19A1, CYP3A5, NSDHL

Biological processes related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.4FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:02184710.4FGFR1, FGFR2
3positive regulation of steroid hormone biosynthetic processGO:09003110.3CYP17A1, POR
4positive regulation of phospholipase activityGO:01051810.3FGFR1, FGFR2
5mesenchymal cell differentiationGO:04876210.2FGFR1, FGFR2
6dibenzo-p-dioxin metabolic processGO:01889410.2CYP17A1, CYP1A2
7glucocorticoid biosynthetic processGO:00670410.2CYP21A2, CYP17A1
8steroid biosynthetic processGO:00669410.2CYP51A1, CYP17A1, CYP19A1
9branching involved in salivary gland morphogenesisGO:06044510.1FGFR1, FGFR2
10drug catabolic processGO:04273710.1CYP1A2, CYP3A5
11lung-associated mesenchyme developmentGO:06048410.0FGFR1, FGFR2
12sterol metabolic processGO:01612510.0CYP51A1, CYP21A2, CYP17A1, CYP19A1
13oxidative demethylationGO:0709899.9CYP1A2, CYP3A5
14exogenous drug catabolic processGO:0427389.8CYP1A2, CYP2A6, CYP2B6
15drug metabolic processGO:0171449.7CYP2B6, CYP2A6, CYP1A2
16epoxygenase P450 pathwayGO:0193739.6CYP2J2, CYP1A2
17steroid metabolic processGO:0082029.2CYP19A1, CYP3A5, CYP17A1, CYP21A2, CYP2A6, CYP2B6
18xenobiotic metabolic processGO:0068058.1CYP2J2, CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP17A1
19small molecule metabolic processGO:0442817.2CYP3A5, CYP19A1, CYP3A43, CYP1A2, NSDHL, CYP17A1

Molecular functions related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:0050079.9FGFR2, FGFR1, FGFRL1
2fibroblast growth factor bindingGO:0171349.8FGFRL1, FGFR1, FGFR2
3oxygen bindingGO:0198259.5CYP19A1, CYP3A5, CYP17A1
4enzyme bindingGO:0198999.4CYP2A6, CYB5A, CYP1A2, POR
5oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprGO:0167129.4CYP1A2, CYP19A1, CYP2A6, CYP2B6
6monooxygenase activityGO:0044979.3CYP2B6, CYP3A5, CYP3A43, CYP1A2
7aromatase activityGO:0703308.7CYP1A2, CYP3A43, CYP19A1, CYP3A5, CYP4X1, CYP2J2
8electron carrier activityGO:0090557.3POR, CYP2J2, CYP2B6, CYP51A1, CYP2A6, CYP21A2
9iron ion bindingGO:0055066.8CYP17A1, CYP4X1, CYP21A2, CYP2A6, CYCS, CYP51A1
10heme bindingGO:0200376.8CYB5A, CYP17A1, CYP3A5, CYP19A1, CYP3A43, CYP1A2

Products for genes affiliated with Antley-Bixler Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Antley-Bixler Syndrome

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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