| Descriptor English: | Antley-Bixler Syndrome Phenotype | ||||||
| Descriptor Spanish: |
Fenotipo del Síndrome de Antley-Bixler
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| Descriptor Portuguese: | Fenótipo de Síndrome de Antley-Bixler | ||||||
| Descriptor French: | Phénotype du syndrome d'Antley-Bixler | ||||||
| Entry term(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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| Tree number(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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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D054882 | ||||||
| Scope note: | 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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| Allowable Qualifiers: |
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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| Previous Indexing: |
Abnormalities, Multiple (1982-2008) Craniosynostoses (1982-2008) Syndrome (1982-2008) Synostosis (1982-2008) |
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| Public MeSH Note: | 2009 |
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| History Note: | 2009 |
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| Related: |
NADPH-Ferrihemoprotein Reductase
MeSH Receptor, Fibroblast Growth Factor, Type 2 MeSH | ||||||
| DeCS ID: | 53063 | ||||||
| Unique ID: | D054882 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2009/01/01 | ||||||
| Date of Entry: | 2008/07/08 | ||||||
| Revision Date: | 2013/07/08 |
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Antley-Bixler Syndrome Phenotype
- Preferred
Antley-Bixler Syndrome, Autosomal Dominant
- Narrower
Antley Bixler Syndrome
- Related but not broader or narrower
Antley-Bixler Syndrome, Autosomal Recessive
- Narrower
| Concept UI |
M0508592 |
| Scope note | 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). |
| Preferred term | Antley-Bixler Syndrome Phenotype |
| Entry term(s) |
Antley Bixler Syndrome Phenotype Phenotype, Antley-Bixler Syndrome Syndrome Phenotype, Antley-Bixler |
| Concept UI |
M0511649 |
| Scope note | 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. |
| Preferred term | Antley-Bixler Syndrome, Autosomal Dominant |
| Entry term(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 |
| Concept UI |
M000746023 |
| Preferred term | Antley Bixler Syndrome |
| Entry term(s) |
Multisynostotic Osteodysgenesis |
| Concept UI |
M000746024 |
| Preferred term | Antley-Bixler Syndrome, Autosomal Recessive |
| Entry term(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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