Details of Disease | DrugMAP

General Information of Disease (ID: DISOXWIT)

Disease Name	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Synonyms	ABS1; Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis; Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Disease Hierarchy	DISH25CS: Antley-Bixler syndrome DISOXWIT: Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis
Disease Identifiers	MONDO ID MONDO_0008726 UMLS CUI C3150099 OMIM ID 201750 MedGen ID 461449 Orphanet ID 63269

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
POR	TTOQ9GZ	Strong	Biomarker	[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	Definitive	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POR	OTVIDOCH	Definitive	Autosomal recessive	[2]
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References

1	POR R457H is a global founder mutation causing Antley-Bixler syndrome with autosomal recessive trait.Am J Med Genet A. 2006 Mar 15;140(6):633-5. doi: 10.1002/ajmg.a.31112.
2	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.