Details of Disease | DrugMAP

General Information of Disease (ID: DISH25CS)

Disease Name	Antley-Bixler syndrome
Synonyms	osteodysgenesis, multisynostotic, with fractures; osteodysgenesis, multisynostotic with fractures; trapezoidocephaly synostosis syndrome; multisynostotic osteodysgenesis with long bone fractures; Antley Bixler syndrome; trapezoidocephaly-synostosis syndrome
Definition	Antley-Bixler syndrome is a very rare disorder characterized by craniosynostosis with midface hypoplasia, radiohumeral synostosis, femoral bowing and joint contractures.
Disease Hierarchy	DIS8FENM: Craniosynostosis syndrome, autosomal recessive DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISEUVBK: Syndromic craniosynostosis DISH25CS: Antley-Bixler syndrome
Disease Identifiers	MONDO ID MONDO_0008803 MESH ID D054882 UMLS CUI C5234850 MedGen ID 1714404 Orphanet ID 83 SNOMED CT ID 62964007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	TTGJVQM	Supportive	Autosomal dominant	[1]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
POR	DE3N2FM	Supportive	Autosomal dominant	[2]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGFR2	OTLOPACK	Supportive	Autosomal dominant	[1]
POR	OTVIDOCH	Supportive	Autosomal dominant	[2]
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References

1	FGFR2 mutation associated with clinical manifestations consistent with Antley-Bixler syndrome. Am J Med Genet. 1998 May 18;77(3):219-24. doi: 10.1002/(sici)1096-8628(19980518)77:3<219::aid-ajmg6>3.0.co;2-k.
2	Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: molecular and clinical studies in 10 patients. J Clin Endocrinol Metab. 2005 Jan;90(1):414-26. doi: 10.1210/jc.2004-0810. Epub 2004 Oct 13.