Details of Disease

General Information of Disease (ID: DISZ5BR7)

Disease Name Branchiootic syndrome 1
Synonyms
anterior segment anomalies with or without cataract; BOS1; branchiootic dysplasia; bo syndrome 1; branchiootic syndrome caused by mutation in EYA1; branchiootic syndrome 1; branchiootic syndrome type 1; EYA1 branchiootic syndrome
Definition Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene.
Disease Hierarchy
DISYKSRF: Genetic disease
DIS3X164: Branchiootic syndrome
DISZ5BR7: Branchiootic syndrome 1
Disease Identifiers
MONDO ID
MONDO_0011258
MESH ID
C537104
UMLS CUI
C1865143
OMIM ID
602588
MedGen ID
351307

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
KCNQ4 TT8HGRW Strong Genetic Variation [1]
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This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EYA1 OTHU807A Strong Autosomal dominant [2]
SIX1 OT70YYWM Definitive GermlineCausalMutation [3]
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References

1 Genetic mutation of familial dilated cardiomyopathy based on nextgeneration semiconductor sequencing.Mol Med Rep. 2018 Nov;18(5):4271-4280. doi: 10.3892/mmr.2018.9455. Epub 2018 Sep 5.
2 PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels. Nat Genet. 2019 Nov;51(11):1560-1565. doi: 10.1038/s41588-019-0528-2.
3 SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A. 2004 May 25;101(21):8090-5. doi: 10.1073/pnas.0308475101. Epub 2004 May 12.