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Disease Antley-Bixler Syndrome Phenotype

Name Antley-Bixler Syndrome Phenotype
Synonyms Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency | Antley Bixler Syndrome | Antley-Bixler Syndrome | Antley Bixler Syndrome, Autosomal Dominant | Antley-Bixler Syndrome, Autosomal Dominant | Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis | Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis | Antley Bixler Syndrome Phenotype | Antley Bixler Syndrome with Disordered Steroidogenesis | Antley-Bixler Syndrome with Disordered Steroidogenesis | Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase | Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency | Cytochrome P450 Oxidoreductase Deficiency | Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency | DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY | Multisynostotic Osteodysgenesis | Multisynostotic Osteodysgenesis With Long Bone Fractures | Osteodysgenesis, Multisynostotic | Osteodysgenesis, Multisynostotic, With Fractures | Phenotype, Antley-Bixler Syndrome | POR Deficiency | Syndrome, Antley-Bixler | Syndrome Phenotype, Antley-Bixler | Syndromes, Trapezoidocephaly-Synostosis | Syndrome, Trapezoidocephaly-Synostosis | Trapezoidocephaly Synostosis Syndrome | Trapezoidocephaly-Synostosis Syndrome | Trapezoidocephaly-Synostosis Syndromes
Definition 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).
Categories Congenital abnormality | Genetic disease (inborn) | Metabolic disease | Musculoskeletal disease
MeSH® ID D054882
OMIM® ID 613571
External Links

Top ↑ Ancestors

1. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases Has associated chemicals Has associated genes Has associated exposure references Bone Diseases, Developmental Has associated chemicals Has associated genes Dysostoses Has associated chemicals Has associated genes Synostosis Has associated chemicals Has associated genes Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes
2. DiseasesMusculoskeletal Diseases Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Synostosis Has associated chemicals Has associated genes Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Musculoskeletal Abnormalities Has associated chemicals Has associated genes Has associated exposure references Synostosis Has associated chemicals Has associated genes Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes
5. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Steroid Metabolism, Inborn Errors Has associated chemicals Has associated genes Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes

Top ↑ Descendants

Antley-Bixler Syndrome Phenotype Has associated chemicals Has associated genes
  ANTLEY-BIXLER SYNDROME WITH GENITAL ANOMALIES AND DISORDERED STEROIDOGENESIS Has associated chemicals Has associated genes
  ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS Has associated chemicals Has associated genes