MCID: ANT003
MIFTS: 55

Antley-Bixler Syndrome malady

Genetic diseases, Rare diseases, Bone diseases categories

Summaries for Antley-Bixler Syndrome

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Disease Ontology:9 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 based summary: 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.

Descriptions from OMIM:46 201750,207410

Aliases & Classifications for Antley-Bixler Syndrome

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Antley-Bixler Syndrome, Aliases & Descriptions:

Name: Antley-Bixler Syndrome 9 11 44 61
Antley Bixler Syndrome 42 21 23
Trapezoidocephaly-Synostosis Syndrome 9 61
 
Multisynostotic Osteodysgenesis with Long Bone Fractures 42
Osteodysgenesis, Multisynostotic with Fractures 42
Trapezoidocephaly Synostosis Syndrome 42


Classifications:

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


External Ids:

Disease Ontology9 DOID:0050462
MeSH34 D054882

Related Diseases for Antley-Bixler Syndrome

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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 74)
idRelated DiseaseScoreTop Affiliating Genes
1cytochrome p450 oxidoreductase deficiency32.0POR
2synostosis31.6FGFR1, FGFR2
3congenital adrenal hyperplasia30.5POR, CYP17A1, CYP19A1, CYP21A2, POMC
4antley-bixler syndrome with genital anomalies and disordered steroidogenesis10.7
5antley-bixler syndrome without genital anomalies or disordered steroidogenesis10.7
6osteoglophonic dysplasia10.5FGFR1
7luteoma10.5
8achondroplasia10.5FGFR2
9aromatase excess syndrome10.5CYP19A1
10fgfr-related craniosynostosis syndromes10.4FGFR2, FGFR1
11jackson-weiss syndrome10.4FGFR2, FGFR1
12muenke syndrome10.4FGFR2, FGFR1
13infectious mononucleosis10.4FGFR1, FGFR2
14crouzon syndrome10.4FGFR2, FGFR1
15hypochondroplasia10.4FGFR1, FGFR2
16acrocephalosyndactylia10.4FGFR1, FGFR2
17saethre-chotzen syndrome10.4FGFR2, FGFR1
18radioulnar synostosis10.4
19esophageal atresia10.4
20esophagitis10.4
21chiari malformation10.4
22disordered steroidogenesis due to cytochrome p450 oxidoreductase10.4
23acanthosis nigricans10.3CYP21A2, FGFR2
24androgenetic alopecia10.3CYP21A2, CYP19A1
25aorta atresia10.3CYP19A1, FGFR2
26anovulation10.3CYP19A1, CYP21A2
27pseudohermaphroditism10.3CYP17A1, CYP19A1
28hypoadrenalism10.3POMC
29dwarfism10.3FGFR2, FGFR1
30craniosynostosis10.3POR, FGFR2, FGFR1
31adrenal carcinoma10.3POMC
32gynecomastia10.3CYP19A1, CYP17A1
33amenorrhea10.3POMC
34hypospadias10.2CYP21A2, CYP17A1, FGFR2
35klinefelter's syndrome10.2FGFR1, CYP21A2, CYP19A1
36cryptorchidism10.2FGFR1, CYP19A1
37polycystic ovary syndrome10.2CYP21A2, CYP19A1, CYP17A1
38uterine fibroid10.2CYP21A2, CYP19A1, CYP17A1
39acute adrenal insufficiency10.1POMC, CYP21A2
40stomach cancer10.1FGFR1, FGFR2, POR
41skeletal dysplasia multi-gene panels10.1FGFR1, CYP17A1, POR, FGFR2
42male infertility10.1CYP19A1, CYP21A2
43adrenal gland hyperfunction10.1CYP21A2, POMC
44autoimmune polyendocrinopathy syndrome , type i, with or without reversible metaphyseal dysplasia10.1CYP21A2, CYP1A2, CYP17A1
45infertility10.1CYP19A1, CYP21A2, CYCS
46cushing's syndrome10.1POMC, 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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Clinical features from OMIM:

201750,207410

Drugs & Therapeutics for Antley-Bixler Syndrome

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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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Genetic tests related to Antley-Bixler Syndrome:

id Genetic test Affiliating Genes
1 Antley-Bixler Syndrome21 23

Anatomical Context for Antley-Bixler Syndrome

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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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Publications for Antley-Bixler Syndrome

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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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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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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 II37
androgen biosynthesis37
estradiol biosynthesis I37
progesterone biosynthesis37
9.7CYP17A1, CYP19A1
5
Show member pathways
tryptophan degradation X (mammalian, via tryptamine)37
2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA37
tryptophan degradation37
glutaryl-CoA degradation37
serotonin degradation37
NAD de novo biosynthesis37
superpathway of melatonin degradation37
tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde37
tryptophan utilization I37
melatonin degradation I37
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 biosynthesis59
Androstenedione and testosterone biosynthesis and metabolism p.159
9.1CYP19A1, CYP1A2, CYP17A1
10
Show member pathways
9.0POMC, FGFR2, FGFR1
11
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism37
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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Compounds related to Antley-Bixler Syndrome according to GeneCards/GeneDecks:

(show top 50)    (show all 219)
idCompoundScoreTop Affiliating Genes
1pcb 126449.7CYP21A2, CYP19A1, CYP17A1
2dimethylnitrosamine449.4CYP1A2, CYB5A, POR
37-ethoxycoumarin449.3CYP1A2, CYB5A, POR
4ferricyanide449.3CYB5A, POR, CYCS
521-deoxycortisol44 2510.3CYP17A1, CYP21A2, POMC
6benzphetamine44 1210.3CYB5A, CYP1A2, POR
7acth 1-24449.3POMC, CYP21A2, CYP17A1
8nafarelin44 60 29 1212.3CYP21A2, CYP19A1, POMC
911 deoxycortisol449.2POMC, CYP17A1, CYP21A2
10lauric acid44 2910.2POR, CYB5A, CYP1A2
11doca449.2CYP17A1, CYP21A2, POMC
12haem449.1CYCS, CYB5A, POR
13aminopyrine449.1CYB5A, POR, CYP17A1, CYP1A2
14erythromycin44 3 50 1212.1CYP1A2, FGFR2, POR, CYB5A
15chlorzoxazone44 29 1211.1POR, CYB5A, CYP1A2
16estrone44 29 25 1212.0CYP17A1, CYP19A1, POR, CYP1A2
17dihydrotestosterone44 29 25 1212.0CYP17A1, POR, CYP21A2, CYP19A1
18fluconazole44 129.9POR, CYP51A1, POMC, CYP19A1
19menadione44 25 1210.9POR, CYP1A2, CYB5A, CYCS
20metyrapone44 60 1210.8CYP1A2, POR, CYP21A2, POMC
21aflatoxin b144 259.8POR, CYP1A2, CYB5A
22nifedipine44 29 50 1211.7CYB5A, CYP17A1, CYP1A2, POR
23pentoxyresorufin44 609.7CYP17A1, CYP1A2, CYP19A1, CYB5A, POR
24aminoglutethimide44 129.7CYP21A2, CYP19A1, CYP1A2, POMC
25imidazole448.6CYP21A2, CYP19A1, CYCS, CYB5A, CYP51A1
26ribonucleic acid448.6CYP17A1, FGFR2, POMC, CYP21A2, FGFR1
27gnrh448.6CYP17A1, FGFR1, CYP19A1, CYP21A2, POMC
2817-hydroxypregnenolone448.6POR, POMC, CYB5A, CYP21A2, CYP17A1
29tamoxifen44 50 29 1211.5CYB5A, CYP19A1, CYP1A2, FGFR2, CYP17A1
30genistein44 29 60 3 25 1213.5FGFR1, FGFR2, CYP21A2, CYP19A1, CYP1A2, CYP17A1
31dehydroepiandrosterone sulfate448.4POMC, CYP17A1, CYB5A, CYP21A2, CYP19A1
32epinephrine44 25 1210.4FGFR2, POR, POMC, CYP21A2, CYP1A2
33NADP258.4CYP17A1, CYP1A2, CYP21A2, CYP51A1, CYP19A1, POR
3417-hydroxyprogesterone44 259.2POMC, CYB5A, CYP21A2, CYP19A1, POR, CYP17A1
353beta-hydroxysteroid448.2POMC, CYP17A1, CYP19A1, CYP21A2, CYB5A, POR
36dhea448.1CYP17A1, POMC, CYB5A, CYP21A2, POR, CYP19A1
37h2o2448.0CYCS, CYB5A, POR, FGFR2, FGFR1, POMC
38estradiol44 25 1210.0CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC
39ketoconazole44 29 25 1210.9CYP19A1, CYP17A1, CYP1A2, CYP51A1, CYP21A2, POMC
40dexamethasone44 50 29 1210.8CYP21A2, POR, CYP17A1, CYP1A2, CYP19A1, POMC
41arginine447.8CYP17A1, CYB5A, CYP21A2, POR, POMC, CYP19A1
42androstenedione44 258.5POR, POMC, CYB5A, CYP21A2, CYP19A1, CYP1A2
43oxygen44 258.5CYP21A2, CYP19A1, CYP51A1, POR, CYP1A2, CYCS
44estrogen447.4CYP19A1, CYP17A1, POR, FGFR2, FGFR1, POMC
45heme29 25 129.4CYP21A2, CYP17A1, CYCS, CYP1A2, CYP19A1, CYB5A
46nadph44 258.4POR, CYP21A2, CYP51A1, CYCS, CYB5A, CYP19A1
47serine447.4CYB5A, FGFR2, CYP21A2, POR, FGFR1, CYCS
48progesterone44 29 60 25 1211.2CYP21A2, CYP19A1, CYP1A2, CYP17A1, POMC, CYB5A
49steroid447.1CYP51A1, FGFR2, POR, POMC, CYB5A, CYP21A2
50testosterone44 60 25 129.9FGFR1, CYP19A1, CYP1A2, CYP21A2, CYB5A, POMC

GO Terms for genes affiliated with Antley-Bixler Syndrome

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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:03560710.2FGFR2, FGFR1
2ventricular zone neuroblast divisionGO:02184710.2FGFR1, FGFR2
3positive regulation of phospholipase activityGO:01051810.1FGFR1, FGFR2
4positive regulation of steroid hormone biosynthetic processGO:09003110.1CYP17A1, POR
5mesenchymal cell differentiationGO:04876210.1FGFR1, FGFR2
6demethylationGO:07098810.1CYP51A1, POR
7lung-associated mesenchyme developmentGO:06048410.1FGFR1, FGFR2
8branching involved in salivary gland morphogenesisGO:06044510.0FGFR1, FGFR2
9glucocorticoid biosynthetic processGO:00670410.0CYP17A1, CYP21A2
10positive regulation of cardiac muscle cell proliferationGO:06004510.0FGFR1, FGFR2
11skeletal system morphogenesisGO:0487059.9FGFR1, FGFR2
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:0082029.6CYP21A2, CYP19A1, CYP17A1
17steroid biosynthetic processGO:0066949.6CYP19A1, CYP17A1, CYP51A1
18positive regulation of mesenchymal cell proliferationGO:0020539.6FGFR1, FGFR2
19cellular respirationGO:0453339.5CYCS, CYP1A2
20sterol metabolic processGO:0161259.2CYP21A2, CYP19A1, CYP17A1, CYP51A1
21xenobiotic metabolic processGO:0068058.6CYP51A1, CYP17A1, CYP1A2, CYP19A1, CYP21A2
22small molecule metabolic processGO:0442817.6CYP51A1, CYP17A1, CYCS, CYP1A2, CYP19A1, CYP21A2

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

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