Antley-Bixler Syndrome Phenotype [fenotyp Antley-Bixlerova syndromu]
- Terms
-
Antley-Bixlerův syndrom
Antley-Bixlerův syndrom typ 1
Antley-Bixlerův syndrom typ 2
Antleyho-Bixlerův syndrom - fenotyp
Antleyho-Bixlerův syndrom autozomálně dominantní
Antleyho-Bixlerův syndrom s anomáliemi genitálu a poruchou steroidogeneze
fenotyp Antley Bixlerova syndromu
POR deficience
POR-vázaný Antleyho-Bixlerův syndrom
-
Adrenal Hyperplasia, Congenital, Due To Cytochrome P450 Oxidoreductase Deficiency
Antley-Bixler Syndrome
Antley-Bixler Syndrome Type 1
Antley-Bixler Syndrome Type 2
Antley-Bixler Syndrome with Disordered Steroidogenesis
Antley-Bixler Syndrome-Like Phenotype With Disordered Steroidogenesis
Antley-Bixler Syndrome, Autosomal Dominant
Antley-Bixler Syndrome, Autosomal Recessive
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, With Fractures
POR Deficiency
Trapezoidocephaly-Synostosis Syndrome
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).
- DUI
- D054882 MeSH Browser
- CUI
- M0508592
- Previous indexing
- Abnormalities, Multiple (1982-2008); Craniosynostoses (1982-2008); Syndrome (1982-2008); Synostosis (1982-2008)
- History note
- 2009
- Public note
- 2009
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications
- DI
- diagnosis
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy
- EC
- economics
- EM
- embryology
- EN
- enzymology 1
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology
- GE
- genetics 1
- HI
- history
- IM
- immunology
- ME
- metabolism
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology
- PP
- physiopathology
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy
- UR
- urine
- VE
- veterinary
- VI
- virology