MCID: ANT003
MIFTS: 56

Antley-Bixler Syndrome malady

Genetic diseases, Rare diseases, Bone diseases categories
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Summaries for Antley-Bixler Syndrome

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8Disease Ontology, 47OMIM, 33MalaCards
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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 cytochrome p450 oxidoreductase deficiency and synostosis. An important gene associated with Antley-Bixler Syndrome is POR (P450 (cytochrome) oxidoreductase), and among its related pathways are Alzheimers Disease Pathway and Signaling by FGFR1 mutants. The compounds pcb 126 and dimethylnitrosamine have been mentioned in the context of this disorder. Affiliated tissues include bone, and related mouse phenotypes are limbs/digits/tail and muscle.

Description from OMIM:47 201750,207410

Aliases & Classifications for Antley-Bixler Syndrome

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8Disease Ontology, 43NIH Rare Diseases, 20GeneTests, 22GTR, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 47OMIM
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Bone diseases


Aliases & Descriptions:

antley-bixler syndrome 8 10 45 62
antley bixler syndrome 43 20 22
multisynostotic osteodysgenesis with long bone fractures 43
osteodysgenesis, multisynostotic with fractures 43
trapezoidocephaly-synostosis syndrome 8
trapezoidocephaly synostosis syndrome 43


External Ids:

Disease Ontology8 DOID:0050462
MeSH35 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 73)
idRelated DiseaseScoreTop Affiliating Genes
1cytochrome p450 oxidoreductase deficiency31.2POR
2synostosis31.2FGFR1, FGFR2
3congenital adrenal hyperplasia30.8POR, CYP17A1, CYP19A1, CYP21A2, POMC
4antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.7
5antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.6
6luteoma10.5
7radioulnar synostosis10.3
8esophageal atresia10.3
9esophagitis10.3
10chiari malformation10.3
11disordered steroidogenesis due to cytochrome p450 oxidoreductase10.3
12osteoglophonic dysplasia10.1FGFR1
13achondroplasia10.1FGFR2
14aromatase excess syndrome10.1CYP19A1
15fgfr-related craniosynostosis syndromes10.1FGFR2, FGFR1
16jackson-weiss syndrome10.1FGFR2, FGFR1
17muenke syndrome10.1FGFR2, FGFR1
18infectious mononucleosis10.1FGFR1, FGFR2
19crouzon syndrome10.1FGFR2, FGFR1
20hypochondroplasia10.1FGFR1, FGFR2
21acrocephalosyndactylia10.1FGFR1, FGFR2
22saethre-chotzen syndrome10.1FGFR2, FGFR1
23acanthosis nigricans10.1CYP21A2, FGFR2
24androgenic alopecia10.1CYP21A2, CYP19A1
25aorta atresia10.1CYP19A1, FGFR2
26anovulation10.1CYP19A1, CYP21A2
27pseudohermaphroditism10.1CYP17A1, CYP19A1
28hypoadrenalism10.1POMC
29dwarfism10.1FGFR2, FGFR1
30craniosynostosis10.1POR, FGFR2, FGFR1
31adrenal carcinoma10.1POMC
32gynecomastia10.1CYP19A1, CYP17A1
33amenorrhea10.1POMC
34hypospadias10.0CYP21A2, CYP17A1, FGFR2
35klinefelter's syndrome10.0FGFR1, CYP21A2, CYP19A1
36cryptorchidism10.0FGFR1, CYP19A1
37polycystic ovary syndrome10.0CYP21A2, CYP19A1, CYP17A1
38uterine fibroid10.0CYP21A2, CYP19A1, CYP17A1
39acute adrenal insufficiency10.0POMC, CYP21A2
40stomach cancer10.0FGFR1, FGFR2, POR
41skeletal dysplasias10.0FGFR1, CYP17A1, POR, FGFR2
42male infertility10.0CYP19A1, CYP21A2
43adrenal gland hyperfunction10.0CYP21A2, POMC
44autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.0CYP21A2, CYP1A2, CYP17A1
45infertility10.0CYP19A1, CYP21A2, CYCS
46cushing's syndrome10.0POMC, CYP21A2
47hypopituitarism10.0CYP21A2, POMC
48hypokalemia10.0POMC, CYP17A1
49conn's syndrome10.0POMC, CYP21A2, CYP17A1
50hyperaldosteronism10.0POMC, CYP17A1, CYP21A2

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



Diseases related to antley-bixler syndrome

Symptoms for Antley-Bixler Syndrome

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47OMIM
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Clinical features from OMIM:

201750,207410

Drugs & Therapeutics for Antley-Bixler Syndrome

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Antley-Bixler Syndrome

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Antley-Bixler Syndrome:

33
Bone

Animal Models for Antley-Bixler Syndrome or affiliated genes

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37MGI
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Publications for Antley-Bixler Syndrome

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52PubMed
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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
Anesthetic risks associated with antley-bixler syndrome. (23348324)
2013
3
Antley-Bixler Syndrome: Surgical Management of Ambiguous Genitalia - A Case Report. (24334858)
2013
4
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
5
46,XX DSD and Antley-Bixler syndrome due to novel mutations in the cytochrome P450 oxidoreductase gene. (23295302)
2012
6
A case of antley-bixler syndrome. (24027687)
2012
7
Antley-Bixler-syndrome--staged management of craniofacial malformations from birth to adolescence--a case report. (21146417)
2011
8
A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency. (21868813)
2011
9
Spectrum of Antley-Bixler syndrome. (20818252)
2010
10
Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency. (20124576)
2010
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
Antley-Bixler syndrome or POR deficiency?]. (18630181)
2008
14
Anesthesia for an infant with Antley-Bixler syndrome. (17474961)
2007
15
Diminished FAD binding in the Y459H and V492E Antley-Bixler syndrome mutants of human cytochrome P450 reductase. (16998238)
2006
16
POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait. (16470797)
2006
17
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
18
A case of Antley-Bixler syndrome with severe skeletal Cl. III malocclusion. (15536859)
2004
19
Undetectable maternal serum uE3 and postnatal abnormal sterol and steroid metabolism in Antley-Bixler syndrome. (15266606)
2004
20
Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. (14758361)
2004
21
Correction of facial deformity using a Red III device in a patient with Antley-Bixler syndrome. (15547402)
2004
22
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
23
Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome. (15264278)
2004
24
Abnormal sterol metabolism in a patient with Antley-Bixler syndrome and ambiguous genitalia. (12116245)
2002
25
Antley-Bixler syndrome and maternal virilization: a proposal of genetic heterogeneity. (11453978)
2001
26
Further evidence that fibroblast growth factor receptor 2 mutations cause Antley-Bixler syndrome. (11430730)
2001
27
The Antley-Bixler syndrome: two new cases. (11832641)
2001
28
Antley-Bixler syndrome: report of a case. (11149533)
2001
29
Features of Antley-Bixler syndrome in an infant born to a mother with pregnancy luteoma. (10664233)
2000
30
Congenital adrenal hyperplasia associated with maternal pregnancy luteoma and the Antley-Bixler syndrome. (10726707)
2000
31
Antley-Bixler syndrome associated with Arnold-Chiari malformation. (10914975)
2000
32
Musculoskeletal manifestations of the Antley-Bixler syndrome. (10218180)
1999
33
Not Antley-Bixler syndrome. (10076887)
1999
34
Patient described by Chun et al. may not present Antley-Bixler syndrome. (10076886)
1999
35
FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. (9605588)
1998
36
The Antley-Bixler syndrome. A new case without radiohumeral synostosis. (9664207)
1998
37
Antley-Bixler syndrome: a case report and discussion. (9483606)
1998
38
Antley-Bixler syndrome. Description of two new cases and a review of the literature. (9224917)
1997
39
Antley-Bixler syndrome: case report and review of the literature. (9018420)
1997
40
Antley-Bixler syndrome: a disorder characterized by congenital synostosis of the elbow joint and the cranial suture. (8742293)
1996
41
Antley-Bixler syndrome. (9001819)
1996
42
Antley-Bixler syndrome and esophageal atresia in a patient with trisomy 21. (7774045)
1995
43
The Antley-Bixler syndrome: report of two familial cases with severe renal and anal anomalies. (7720741)
1995
44
Antley-Bixler syndrome: case report and review of the literature. (8588853)
1995
45
Radiohumeral synostosis, femoral bowing, other skeletal anomalies and anal atresia, a variant example of Antley-Bixler syndrome? (8267929)
1993
46
The otolaryngologic manifestations of Antley-Bixler syndrome. (1848927)
1991
47
Antley-Bixler syndrome: description of two patients. (1896874)
1991
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
The Antley-Bixler syndrome. (7097411)
1982

Variations for Antley-Bixler Syndrome

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Expression for genes affiliated with Antley-Bixler Syndrome

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2BioGPS, 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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50PathCards, 53QIAGEN, 55Reactome, 38NCBI BioSystems Database, 51PharmGKB, 30KEGG, 60Thomson Reuters
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Pathways related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9FGFR1, FGFR2
2
Show member pathways
9.9FGFR2, FGFR1
39.9FGFR1, FGFR2
4
Show member pathways
estradiol biosynthesis II38
androgen biosynthesis38
estradiol biosynthesis I38
progesterone biosynthesis38
9.7CYP17A1, CYP19A1
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)38
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA38
tryptophan degradation38
glutaryl-CoA degradation38
serotonin degradation38
NAD de novo biosynthesis38
superpathway of melatonin degradation38
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde38
tryptophan utilization I38
melatonin degradation I38
9.6POR, CYP1A2
6
Show member pathways
9.4CYP19A1, CYP1A2
79.3FGFR1, FGFR2, CYCS
8
Show member pathways
9.1POMC, CYCS
9
Show member pathways
Estrogen biosynthesis60
Androstenedione and testosterone biosynthesis and metabolism p.160
9.1CYP19A1, CYP1A2, CYP17A1
10
Show member pathways
9.0POMC, FGFR2, FGFR1
11
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism38
8.7CYP17A1, CYP1A2, CYP19A1, CYP21A2
12
Show member pathways
8.5POMC, CYP21A2, CYP19A1, CYP17A1
13
Show member pathways
7.4CYP51A1, CYP17A1, CYP1A2, CYP19A1, CYP21A2, POMC
14
Show member pathways
6.6POR, CYP51A1, CYP17A1, CYP1A2, CYP19A1, CYP21A2
15
Show member pathways
6.4CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1, CYP21A2

Compounds for genes affiliated with Antley-Bixler Syndrome

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45Novoseek, 24HMDB, 11DrugBank, 61Tocris Bioscience, 29IUPHAR, 3BitterDB, 51PharmGKB
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Compounds related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 219)
idCompoundScoreTop Affiliating Genes
1pcb 126459.7CYP21A2, CYP19A1, CYP17A1
2dimethylnitrosamine459.4CYP1A2, CYB5A, POR
37-ethoxycoumarin459.3CYP1A2, CYB5A, POR
4ferricyanide459.3CYB5A, POR, CYCS
521-deoxycortisol45 2410.3CYP17A1, CYP21A2, POMC
6benzphetamine45 1110.3CYB5A, CYP1A2, POR
7acth 1-24459.3POMC, CYP21A2, CYP17A1
8nafarelin45 61 29 1112.3CYP21A2, CYP19A1, POMC
911 deoxycortisol459.2POMC, CYP17A1, CYP21A2
10lauric acid45 2910.2POR, CYB5A, CYP1A2
11doca459.2CYP17A1, CYP21A2, POMC
12haem459.1CYCS, CYB5A, POR
13aminopyrine459.1CYB5A, POR, CYP17A1, CYP1A2
14erythromycin45 3 51 1112.1CYP1A2, FGFR2, POR, CYB5A
15chlorzoxazone45 29 1111.1POR, CYB5A, CYP1A2
16estrone45 29 24 1112.0CYP17A1, CYP19A1, POR, CYP1A2
17dihydrotestosterone45 29 24 1112.0CYP17A1, POR, CYP21A2, CYP19A1
18fluconazole45 119.9POR, CYP51A1, POMC, CYP19A1
19menadione45 24 1110.9POR, CYP1A2, CYB5A, CYCS
20metyrapone45 61 1110.8CYP1A2, POR, CYP21A2, POMC
21aflatoxin b145 249.8POR, CYP1A2, CYB5A
22nifedipine45 29 51 1111.7CYB5A, CYP17A1, CYP1A2, POR
23pentoxyresorufin45 619.7CYP17A1, CYP1A2, CYP19A1, CYB5A, POR
24aminoglutethimide45 119.7CYP21A2, CYP19A1, CYP1A2, POMC
25imidazole458.6CYP21A2, CYP19A1, CYCS, CYB5A, CYP51A1
26ribonucleic acid458.6CYP17A1, FGFR2, POMC, CYP21A2, FGFR1
27gnrh458.6CYP17A1, FGFR1, CYP19A1, CYP21A2, POMC
2817-hydroxypregnenolone458.6POR, POMC, CYB5A, CYP21A2, CYP17A1
29tamoxifen45 51 29 1111.5CYB5A, CYP19A1, CYP1A2, FGFR2, CYP17A1
30genistein45 29 61 3 24 1113.5FGFR1, FGFR2, CYP21A2, CYP19A1, CYP1A2, CYP17A1
31dehydroepiandrosterone sulfate458.4POMC, CYP17A1, CYB5A, CYP21A2, CYP19A1
32epinephrine45 24 1110.4FGFR2, POR, POMC, CYP21A2, CYP1A2
33NADP248.4CYP17A1, CYP1A2, CYP21A2, CYP51A1, CYP19A1, POR
3417-hydroxyprogesterone45 249.2POMC, CYB5A, CYP21A2, CYP19A1, POR, CYP17A1
353beta-hydroxysteroid458.2POMC, CYP17A1, CYP19A1, CYP21A2, CYB5A, POR
36dhea458.1CYP17A1, POMC, CYB5A, CYP21A2, POR, CYP19A1
37h2o2458.0CYCS, CYB5A, POR, FGFR2, FGFR1, POMC
38estradiol45 24 1110.0CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC
39ketoconazole45 29 24 1110.9CYP19A1, CYP17A1, CYP1A2, CYP51A1, CYP21A2, POMC
40dexamethasone45 51 29 1110.8CYP21A2, POR, CYP17A1, CYP1A2, CYP19A1, POMC
41arginine457.8CYP17A1, CYB5A, CYP21A2, POR, POMC, CYP19A1
42androstenedione45 248.5POR, POMC, CYB5A, CYP21A2, CYP19A1, CYP1A2
43oxygen45 248.5CYP21A2, CYP19A1, CYP51A1, POR, CYP1A2, CYCS
44estrogen457.4CYP19A1, CYP17A1, POR, FGFR2, FGFR1, POMC
45heme29 24 119.4CYP21A2, CYP17A1, CYCS, CYP1A2, CYP19A1, CYB5A
46nadph45 248.4POR, CYP21A2, CYP51A1, CYCS, CYB5A, CYP19A1
47serine457.4CYB5A, FGFR2, CYP21A2, POR, FGFR1, CYCS
48progesterone45 29 61 24 1111.2CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC, CYB5A
49steroid457.1CYP51A1, FGFR2, POR, POMC, CYB5A, CYP21A2
50testosterone45 61 24 119.9FGFR1, CYP19A1, CYP1A2, CYP21A2, CYB5A, POMC

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 reticulum membraneGO:0057897.5POR, CYB5A, CYP21A2, CYP19A1, CYP1A2, CYP17A1

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex developmentGO:03560710.2FGFR1, FGFR2
2ventricular zone neuroblast divisionGO:02184710.2FGFR2, FGFR1
3positive regulation of phospholipase activityGO:01051810.1FGFR1, FGFR2
4positive regulation of steroid hormone biosynthetic processGO:09003110.1POR, CYP17A1
5mesenchymal cell differentiationGO:04876210.1FGFR1, FGFR2
6lung-associated mesenchyme developmentGO:06048410.1FGFR2, FGFR1
7demethylationGO:07098810.0POR, CYP51A1
8branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
9glucocorticoid biosynthetic processGO:00670410.0CYP21A2, CYP17A1
10positive regulation of cardiac muscle cell proliferationGO:06004510.0FGFR1, FGFR2
11skeletal system morphogenesisGO:0487059.9FGFR2, FGFR1
12positive regulation of cell cycleGO:0457879.9FGFR2, FGFR1
13ureteric bud developmentGO:0016579.9FGFR1, FGFR2
14midbrain developmentGO:0309019.8FGFR1, FGFR2
15dibenzo-p-dioxin metabolic processGO:0188949.7CYP17A1, CYP1A2
16steroid metabolic processGO:0082029.6CYP17A1, CYP19A1, CYP21A2
17steroid biosynthetic processGO:0066949.6CYP19A1, CYP17A1, CYP51A1
18positive regulation of mesenchymal cell proliferationGO:0020539.6FGFR2, FGFR1
19cellular respirationGO:0453339.5CYP1A2, CYCS
20sterol metabolic processGO:0161259.2CYP51A1, CYP17A1, CYP19A1, CYP21A2
21xenobiotic metabolic processGO:0068058.6CYP17A1, CYP19A1, CYP21A2, CYP51A1, CYP1A2
22small molecule metabolic processGO:0442817.6CYP21A2, CYP51A1, CYB5A, CYP17A1, CYP19A1, CYCS

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1fibroblast growth factor-activated receptor activityGO:00500710.0FGFR2, FGFR1
2fibroblast growth factor bindingGO:0171349.9FGFR2, FGFR1
3oxygen bindingGO:0198259.7CYP19A1, CYP17A1
4oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygenGO:0167129.5CYP19A1, CYP1A2
5aromatase activityGO:0703309.3CYP19A1, CYP1A2
6electron carrier activityGO:0090559.3POR, CYP19A1, CYP1A2
7enzyme bindingGO:0198998.8POR, CYB5A, CYP1A2
8iron ion bindingGO:0055067.6CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1, CYP21A2
9heme bindingGO:0200377.4CYB5A, CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1

Products for genes affiliated with Antley-Bixler Syndrome

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4CDC
13ExPASy
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
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48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet