Details of Disease

General Information of Disease (ID: DISXGAEX)

Disease Name Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Synonyms
ABS2; osteodysgenesis, multisynostotic, with fractures; multisynostotic osteodysgenesis with long bone fractures; trapezoidocephaly-synostosis Syndrome; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Disease Hierarchy
DISH25CS: Antley-Bixler syndrome
DISXGAEX: Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Disease Identifiers
MONDO ID
MONDO_0020667
MESH ID
D054882
UMLS CUI
C2936791
OMIM ID
207410
MedGen ID
422448
Orphanet ID
596008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
FGFR2 TTGJVQM Limited Biomarker [1]
CYP2B6 TTMH124 Strong Genetic Variation [2]
CYP51A1 TT67TDP Strong Biomarker [3]
POR TTOQ9GZ Strong Genetic Variation [4]
FGFR2 TTGJVQM Definitive Autosomal dominant [5]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
FGFR2 OTLOPACK Definitive Autosomal dominant [5]
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References

1 Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.Genet Med. 2017 Oct;19(10):1171-1178. doi: 10.1038/gim.2017.31. Epub 2017 Apr 20.
2 Mouse knockout of the cholesterogenic cytochrome P450 lanosterol 14alpha-demethylase (Cyp51) resembles Antley-Bixler syndrome.J Biol Chem. 2011 Aug 19;286(33):29086-29097. doi: 10.1074/jbc.M111.253245. Epub 2011 Jun 25.
3 Cytochrome P450s in the synthesis of cholesterol and bile acids--from mouse models to human diseases.FEBS J. 2012 May;279(9):1516-33. doi: 10.1111/j.1742-4658.2011.08432.x. Epub 2011 Dec 22.
4 Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses. Birth Defects Res A Clin Mol Teratol. 2016 Jul;106(7):536-41. doi: 10.1002/bdra.23492. Epub 2016 Mar 11.
5 Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.