Antley-Bixler syndrome with disordered steroidogenesis

Summary
Synonym
  • trapezoidocephaly-synostosis syndrome
Definition
An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.
Super Class
Antley-Bixler syndrome autosomal recessive disease syndrome
External Links
Disease Ontology
DOID:0050462
Mondo Disease Ontology
OMIM
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
1544 CYP1A2 cytochrome P450 family 1 subfamily A member 2
1555 CYP2B6 cytochrome P450 family 2 subfamily B member 6
1595 CYP51A1 cytochrome P450 family 51 subfamily A member 1
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P05177 Cytochrome P450 1A2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024