Details of Disease | DrugMAP

General Information of Disease (ID: DISLGBBO)

Disease Name	Enlarged vestibular aqueduct syndrome
Synonyms	large vestibular aqueduct syndrome; enlarged vestibular aqueduct; enlarged vestibular aqueduct syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISI6MRP: Inner ear disease DISI5RBB: Skull disorder DISLGBBO: Enlarged vestibular aqueduct syndrome
Disease Identifiers	MONDO ID MONDO_0023069 MESH ID C566366 UMLS CUI C1863752 MedGen ID 355050 HPO ID HP:0011387

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNJ10	TTG140O	Disputed	Autosomal dominant	[1]
KCNJ10	TTG140O	Disputed	Biomarker	[2]
SLC26A4	TT7X02I	Strong	Biomarker	[3]
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This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FOXI1	OT2UFOE2	Disputed	Autosomal recessive	[1]
KCNJ10	OTPL3Z8A	Disputed	Autosomal dominant	[1]
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References

1	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.
2	Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.Am J Hum Genet. 2009 May;84(5):651-7. doi: 10.1016/j.ajhg.2009.04.014. Epub 2009 May 7.
3	Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.J Clin Endocrinol Metab. 2002 Apr;87(4):1778-84. doi: 10.1210/jcem.87.4.8435.