Details of Disease

General Information of Disease (ID: DISXDFVU)

Disease Name Branchiootorenal syndrome 1
Synonyms branchiootorenal dysplasia; Melnick-Fraser syndrome; BOR1; branchiootorenal syndrome 1; branchiootorenal syndrome type 1; branchiootorenal syndrome 1, with or without cataracts
Disease Hierarchy
DISIPQ53: Branchio-oto-renal syndrome
DISXDFVU: Branchiootorenal syndrome 1
Disease Identifiers
MONDO ID
MONDO_0007236
MESH ID
D019280
UMLS CUI
C4551702
OMIM ID
113650
MedGen ID
1632634

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
KCNQ4 TT8HGRW Strong Genetic Variation [1]
TFAP2A TTDY4BS Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
EYA1 OTHU807A Definitive Autosomal dominant [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 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.
3 Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet. 1997 Dec;6(13):2247-55. doi: 10.1093/hmg/6.13.2247.