Details of Disease

General Information of Disease (ID: DIS62V4P)

Disease Name Branchiootic syndrome 3
Synonyms bo syndrome 3; BOS3; SIX1 branchiootic syndrome; branchiootic syndrome type 3; branchiootic syndrome caused by mutation in SIX1; branchiootic syndrome 3
Definition Any branchiootic syndrome in which the cause of the disease is a mutation in the SIX1 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3X164: Branchiootic syndrome
DIS62V4P: Branchiootic syndrome 3
Disease Identifiers
MONDO ID
MONDO_0012025
MESH ID
C564248
UMLS CUI
C1842124
OMIM ID
608389
MedGen ID
333995

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
SIX2 OTYOVGSC Strong Genetic Variation [1]
SIX1 OT70YYWM Definitive Autosomal dominant [2]
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References

1 Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development.J Dent Res. 2019 May;98(5):572-579. doi: 10.1177/0022034519835204. Epub 2019 Mar 24.
2 A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. Am J Hum Genet. 2000 Jun;66(6):1984-8. doi: 10.1086/302931. Epub 2000 Apr 24.