Details of Disease

General Information of Disease (ID: DISEB137)

Disease Name Branchiootorenal syndrome 2
Synonyms BOR2; branchiootorenal syndrome 2; branchio-oto-renal syndrome caused by mutation in SIX5; SIX5 branchio-oto-renal syndrome; branchiootorenal syndrome type 2
Definition Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene.
Disease Hierarchy
DISIPQ53: Branchio-oto-renal syndrome
DISEB137: Branchiootorenal syndrome 2
Disease Identifiers
MONDO ID
MONDO_0012575
MESH ID
D019280
UMLS CUI
C1970479
OMIM ID
610896
MedGen ID
410081

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
TFAP2A TTDY4BS Strong Biomarker [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 Biomarker [2]
SIX5 OTT1I9WY Definitive Autosomal dominant [3]
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References

1 Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators.Hum Genet. 2009 Dec;126(6):791-803. doi: 10.1007/s00439-009-0730-x.
2 Thymus, kidney and craniofacial abnormalities in Six 1 deficient mice.Mech Dev. 2003 Jun;120(6):669-79. doi: 10.1016/s0925-4773(03)00065-0.
3 Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet. 2007 Apr;80(4):800-4. doi: 10.1086/513322. Epub 2007 Feb 22.