Details of Disease | DrugMAP

General Information of Disease (ID: DISFZF5X)

Disease Name	Anophthalmia/microphthalmia-esophageal atresia syndrome
Synonyms	syndromic microphthalmia, type 3; anophthalmia-esophageal-genital syndrome; anophthalmia microphthalmia esophageal atresia; anophthalmia clinical with associated anomalies; SOX2-related eye disorders; microphthalmia and esophageal atresia syndrome; SOX2 anophthalmia syndrome; Aeg syndrome; anophthalmia, clinical, with associated anomalies; optic nerve hypoplasia and abnormalities of the central nervous system; anophthalmia esophageal genital syndrome; microphthalmia, syndromic 3; microphthalmia, syndromic type 3; MCOPS3; anophthalmia/microphthalmia-esophageal atresia syndrome; syndromic microphthalmia type 3
Definition	Anophthalmia-esophageal atresia syndrome belongs to the group of syndromic microphthalmias and is characterized by the association of uni- or bilateral anophthalmia or microphthalmia, and esophageal atresia with or without trachoesophageal fistula.
Disease Hierarchy	DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome DISR3JBJ: Syndromic microphthalmia DISFZF5X: Anophthalmia/microphthalmia-esophageal atresia syndrome
Disease Identifiers	MONDO ID MONDO_0008799 MESH ID C565948 UMLS CUI C1859773 OMIM ID 206900 MedGen ID 347232 Orphanet ID 77298 SNOMED CT ID 698851003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SOX2	TTCNOT6	Limited	Biomarker	[1]
SOX2	TTCNOT6	Definitive	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SOX2	OTFAWCAU	Definitive	Autosomal dominant	[2]
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References

1	SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant.Eur J Med Genet. 2018 Jun;61(6):335-340. doi: 10.1016/j.ejmg.2018.01.011. Epub 2018 Jan 31.
2	SOX2 anophthalmia syndrome. Am J Med Genet A. 2005 May 15;135(1):1-7; discussion 8. doi: 10.1002/ajmg.a.30642.