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| Descriptor en español: |
Fenotipo del Síndrome de Antley-Bixler
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| Descriptor en inglés: | Antley-Bixler Syndrome Phenotype | ||||||
| Descriptor en portugués: | Fenótipo de Síndrome de Antley-Bixler | ||||||
| Descriptor en francés: | Phénotype du syndrome d'Antley-Bixler | ||||||
| Término(s) alternativo(s): |
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 Type 1 Antley-Bixler Syndrome Type 2 Antley-Bixler Syndrome with Disordered Steroidogenesis Antley-Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome, Autosomal Recessive 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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| Código(s) jeráquico(s): |
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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| Identificador Único RDF: | https://id.nlm.nih.gov/mesh/D054882 | ||||||
| Nota de alcance: | 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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| Calificadores permitidos: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Indexación anterior: |
Abnormalities, Multiple (1982-2008) Craniosynostoses (1982-2008) Syndrome (1982-2008) Synostosis (1982-2008) |
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| Nota Pública de MeSH: | 2009 |
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| Nota de historia: | 2009 |
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| Vea también los descriptores: |
NADPH-Ferrihemoprotein Reductase
MeSH Receptor, Fibroblast Growth Factor, Type 2 MeSH | ||||||
| Identificador de DeCS: | 53063 | ||||||
| ID del Descriptor: | D054882 | ||||||
| Documentos indizados en la Biblioteca Virtual de Salud (BVS): | Haga clic aquí para acceder a los documentos de la BVS | ||||||
| Fecha de establecimiento: | 01/01/2009 | ||||||
| Fecha de entrada: | 08/07/2008 | ||||||
| Fecha de revisión: | 08/07/2013 |
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Antley-Bixler Syndrome Phenotype
- Concepto preferido
Antley-Bixler Syndrome, Autosomal Dominant
- Más estrecho
Antley Bixler Syndrome
- Relacionado pero no más amplio ni más estrecho
Antley-Bixler Syndrome, Autosomal Recessive
- Más estrecho
| UI del concepto |
M0508592 |
| Nota de alcance | 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). |
| Término preferido | Antley-Bixler Syndrome Phenotype |
| Término(s) alternativo(s) |
Antley Bixler Syndrome Phenotype Phenotype, Antley-Bixler Syndrome Syndrome Phenotype, Antley-Bixler |
| UI del concepto |
M0511649 |
| Nota de alcance | Antley-Bixler Syndrome phenotype with normal genitalia and normal steroidogenesis, and associated with autosomal dominant mutations in FGFR2, the gene for FIBROBLAST GROWTH FACTOR RECEPTOR 2. |
| Término preferido | Antley-Bixler Syndrome, Autosomal Dominant |
| Término(s) alternativo(s) |
Antley Bixler Syndrome, Autosomal Dominant Antley-Bixler Syndrome Antley-Bixler Syndrome Type 2 Multisynostotic Osteodysgenesis With Long Bone Fractures Osteodysgenesis, Multisynostotic Osteodysgenesis, Multisynostotic, With Fractures Syndrome, Antley-Bixler Syndrome, Trapezoidocephaly-Synostosis Syndromes, Trapezoidocephaly-Synostosis Trapezoidocephaly Synostosis Syndrome Trapezoidocephaly-Synostosis Syndrome Trapezoidocephaly-Synostosis Syndromes |
| UI del concepto |
M000746023 |
| Término preferido | Antley Bixler Syndrome |
| Término(s) alternativo(s) |
Multisynostotic Osteodysgenesis |
| UI del concepto |
M000746024 |
| Término preferido | Antley-Bixler Syndrome, Autosomal Recessive |
| Término(s) alternativo(s) |
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency Antley Bixler Syndrome Like Phenotype With Disordered Steroidogenesis Antley Bixler Syndrome with Disordered Steroidogenesis Antley-Bixler Syndrome Type 1 Antley-Bixler Syndrome with Disordered Steroidogenesis 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 POR Deficiency |
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