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fenotyp Antley-Bixlerovho syndrómu

Subject h.	fenotyp Antley-Bixlerovho syndrómu
Subject h.	Antley-Bixler Syndrome Phenotype
Entry terms	hyperplázia adrenálna vrodená, spôsobená deficitom cytochróm P450 oxidoreduktázy hyperplázia adrenálna kongenitálna, spôsobená deficitom cytochróm P450 oxidoreduktázy Antley-Bixlerov syndróm s poruchou steroidogenézy Antley-Bixlerov syndróm, autozomálne dominantný Antley-Bixlerov syndróm, autozómovo dominantný Antley-Bixlerov syndróm, autozomálne recesívny Antley-Bixlerov syndróm, autozómovo recesívny Antley-Bixlerov syndróm Antley-Bixlerov syndróm, typ 1 Antley-Bixlerov syndróm, typ 2 Antley-Bixlerov syndróm typu 1 Antley-Bixlerov syndróm typu 2 fenotyp podobný Antley-Bixlerovmu syndrómu s poruchou steroidogenézy deficiencia 17-hydroxylázy a 21-hydroxylázy kombinovaná čiastočná deficit 17-hydroxylázy a 21-hydroxylázy kombinovaný čiastočný hyperplázia adrenálna kongenitálna spôsobená kombinovanou deficienciou P450c17 a P450c21 deficiencia cytochróm P450 oxidoreduktázy porucha steroidogenézy spôsobená deficienciou P450 oxidoreduktázy osteodysgenéza multisynostotická osteodysgenéza multisynostotická, s fraktúrami dlhých kostí osteodysgenéza multisynostotická, so zlomeninami dlhých kostí osteodysgenéza multisynostotická, s fraktúrami osteodysgenéza multisynostotická, so zlomeninami deiciencia POR syndróm trapezoidocefálie-synostózy
English X references	Antley-Bixler Syndrome Type 1 Antley-Bixler Syndrome Type 2 Antley-Bixler Syndrome with Disordered Steroidogenesis Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome, Autosomal Recessive
Scope note in English	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).
See also reference (FX) in Slovak	NADPH-ferihemoproteínreduktáza receptor fibroblastového rastového faktora, typ 2
See also reference (FX) in English	NADPH-Ferrihemoprotein Reductase Receptor, Fibroblast Growth Factor, Type 2
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Number of the records: 1