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DeCS
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Descritor Inglês:
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Antley-Bixler Syndrome Phenotype
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Descritor Espanhol:
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Fenotipo del Síndrome de Antley-Bixler
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Descritor Português:
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Fenótipo de Síndrome de Antley-Bixler
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Sinônimos Inglês:
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Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
Antley Bixler Syndrome
Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis
Antley Bixler Syndrome Phenotype
Antley Bixler Syndrome with Disordered Steroidogenesis
Antley Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome-Like Phenotype 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
Multisynostotic Osteodysgenesis
Multisynostotic Osteodysgenesis With Long Bone Fractures
Osteodysgenesis, Multisynostotic
Osteodysgenesis, Multisynostotic, With Fractures
POR Deficiency
Phenotype, Antley-Bixler Syndrome
Syndrome Phenotype, Antley-Bixler
Syndrome, Antley-Bixler
Syndrome, Trapezoidocephaly-Synostosis
Syndromes, Trapezoidocephaly-Synostosis
Trapezoidocephaly Synostosis Syndrome
Trapezoidocephaly-Synostosis Syndrome
Trapezoidocephaly-Synostosis Syndromes
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Categoria:
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C05.116.099.370.894.115
C05.660.906.181
C16.131.621.906.181
C16.320.565.925.324
C18.452.648.925.324
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Definição Inglês:
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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). |
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Relacionados Inglês:
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NADPH-Ferrihemoprotein Reductase
Receptor, Fibroblast Growth Factor, Type 2
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Nota Histórica Inglês:
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2009
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Qualificadores Permitidos Inglês:
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Número do Registro:
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53063
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Identificador Único:
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D054882
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Ocorrência na BVS:
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Similar:
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DeCS
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