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Antley-Bixler Syndrome Phenotype

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An inherited condition characterized by multiple malformations of CARTILAGE and bone including CRANIOSYNOSTOSIS; midface hypoplasia; radiohumeral SYNOSTOSIS; CHOANAL ATRESIA; femoral bowing; neonatal fractures; and multiple joint CONTRACTURES and, occasionally, urogenital, gastrointestinal or cardiac defects. In utero exposure to FLUCONAZOLE, as well as mutations in at least two separate genes are associated with this condition - POR (encoding P450 (cytochrome) oxidoreductase (NADPH-FERRIHEMOPROTEIN REDUCTASE)) and FGFR2 (encoding FIBROBLAST GROWTH FACTOR RECEPTOR 2).

Also Known As:

Multisynostotic Osteodysgenesis; POR Deficiency; Antley Bixler Syndrome Phenotype; Antley Bixler Syndrome with Disordered Steroidogenesis; Antley Bixler Syndrome, Autosomal Dominant; Osteodysgenesis, Multisynostotic; Phenotype, Antley-Bixler Syndrome; Syndrome Phenotype, Antley-Bixler; Antley-Bixler Syndrome with Disordered Steroidogenesis; Antley-Bixler Syndrome, Autosomal Dominant

Networked: 16 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Virilism (Virilization)
2.	Disorders of Sex Development (Intersexuality)
3.	Craniosynostoses (Craniosynostosis)
4.	Contracture
5.	Pathologic Constriction (Stenosis)

Experts

1.	Miller, Walter L: 5 articles (09/2008 - 11/2004)
2.	Fukami, Maki: 3 articles (12/2014 - 02/2006)
3.	Ogata, Tsutomu: 3 articles (12/2014 - 02/2006)
4.	Pandey, Amit V: 3 articles (01/2011 - 11/2004)
5.	Flück, Christa E: 3 articles (01/2011 - 11/2004)
6.	Huang, Ningwu: 3 articles (01/2008 - 11/2004)
7.	Tajima, Toshihiro: 2 articles (05/2009 - 11/2004)
8.	Hasegawa, Tomonobu: 2 articles (05/2009 - 02/2006)
9.	Nishimura, Gen: 2 articles (05/2009 - 02/2006)
10.	Fujieda, Kenji: 2 articles (05/2009 - 11/2004)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Antley-Bixler Syndrome Phenotype:

1.	Cytochrome P-450 Enzyme System (Cytochrome P450)IBA 02/01/2006 - "In this study, we report on three Japanese patients with cytochrome P450 oxidoreductase (POR) deficiency (PORD). " 12/01/2014 - "Cytochrome P450 oxidoreductase (POR) deficiency (PORD) is a newly characterized disorder. " 06/01/2011 - "Cytochrome P450 oxidoreductase (POR) deficiency is a recently discovered new variant of congenital adrenal hyperplasia. " 05/01/2009 - "Cytochrome P450 oxidoreductase (POR) deficiency is a rare autosomal recessive disorder characterized by skeletal dysplasia, adrenal dysfunction, disorders of sex development (DSD), and maternal virilization during pregnancy. " 11/01/2004 - "POR deficiency is a new disorder of adrenal and gonadal steroidogenesis that affects all microsomal cytochrome P450 enzymes, hence may have important implications for genetic differences in drug metabolism."
2.	Antley-Bixler syndromeIBA 01/01/2015 - "Prenatal Diagnosis of Antley-Bixler Syndrome and POR Deficiency." 01/01/2008 - "[Antley-Bixler syndrome or POR deficiency?]." 06/01/2011 - "Distinctive features of POR deficiency are the presence of disorders of sexual development in both sexes, glucocorticoid deficiency and skeletal malformations similar to those observed in the Antley-Bixler syndrome." 06/01/2011 - "A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency." 01/01/2008 - "Patients with adrenal insufficiency, genital anomalies and bony malformations resembling the Antley- Bixler syndrome (a craniosynostosis syndrome), are likely to have P450 oxidoreductase (POR) deficiency. "
3.	Estriol (Epiestriol)IBA 08/30/2004 - "Prenatal diagnosis of P450 oxidoreductase deficiency (ORD): a disorder causing low pregnancy estriol, maternal and fetal virilization, and the Antley-Bixler syndrome phenotype." 01/01/2011 - "POR deficiency may cause disordered sexual development manifested as genital undervirilization in 46, XY newborns as well as overvirilization in those who are 46, XX. This may be explained by impaired aromatization of fetal androgens that may cause maternal virilization and low urinary estriol levels during pregnancy. " 01/01/2008 - "POR deficiency may cause disordered sexual development manifested as genital undervirilization in 46,XY newborns as well as overvirilization in those who are 46,XX. This may be explained by impaired aromatization of fetal androgens which may also lead to maternal virilization and low urinary estriol levels during pregnancy. "
4.	EnzymesIBA 08/01/2007 - "Differential interaction of POR with electron-accepting CYP enzymes may explain the phenotypic variability in POR deficiency, with additional implications for hepatic drug metabolism by POR-dependant CYP enzymes." 06/01/2007 - "P450 oxidoreductase (POR) deficiency is a disorder of steroidogenesis affecting the microsomal P450 enzymes that use POR as an electron donor. " 11/01/2004 - "POR deficiency is a new disorder of adrenal and gonadal steroidogenesis that affects all microsomal cytochrome P450 enzymes, hence may have important implications for genetic differences in drug metabolism."
5.	AndrogensIBA 01/01/2011 - "POR deficiency may cause disordered sexual development manifested as genital undervirilization in 46, XY newborns as well as overvirilization in those who are 46, XX. This may be explained by impaired aromatization of fetal androgens that may cause maternal virilization and low urinary estriol levels during pregnancy. " 01/01/2008 - "POR deficiency may cause disordered sexual development manifested as genital undervirilization in 46,XY newborns as well as overvirilization in those who are 46,XX. This may be explained by impaired aromatization of fetal androgens which may also lead to maternal virilization and low urinary estriol levels during pregnancy. "
6.	Type 2 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 2)IBA 01/01/2008 - "Antley-Bixler syndrome with normal steroidogenesis is caused by autosomal dominant gain-of-function mutations in fibroblast growth factor receptor 2. Males with POR deficiency are often undervirilized, while females can be virilized. "
7.	Testosterone (Sustanon)FDA Link 01/01/2008 - "A role for the alternate 'backdoor' pathway of androgen biosynthesis, leading to dihydrotestosterone production bypassing androstenedione and testosterone, has been suggested in POR deficiency but remains unclear. "
8.	Steroid 21-Hydroxylase (21 Hydroxylase)IBA 06/01/2007 - "Manifesting heterozygosity is a possible feature of POR deficiency and may ameliorate the findings in coexisting 21-hydroxylase deficiency."
9.	Steroid 17-alpha-Hydroxylase (17 alpha Hydroxylase)IBA 09/01/2008 - "POR deficiency can masquerade clinically as isolated 17,20-lyase deficiency."
10.	Dihydrotestosterone (Androstanolone)IBA 01/01/2008 - "A role for the alternate 'backdoor' pathway of androgen biosynthesis, leading to dihydrotestosterone production bypassing androstenedione and testosterone, has been suggested in POR deficiency but remains unclear. "