Branchio-Oto-Renal Syndrome (Branchio Oculo Facial Syndrome)

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20 relevant articles (0 outcomes, 0 trials/studies) found for this Disease

Description: An autosomal dominant disorder manifested by various combinations of preauricular pits, branchial fistulae or cysts, lacrimal duct stenosis, hearing loss, structural defects of the outer, middle, or inner ear, and renal dysplasia. Associated defects include asthenic habitus, long narrow facies, constricted palate, deep overbite, and myopia. Hearing loss may be due to Mondini type cochlear defect and stapes fixation. (Jablonski's Dictionary of Syndromes & Eponymic Diseases, 2d ed)

Also Known As:

Branchio Oculo Facial Syndrome; Syndrome, BOR; BOR Syndrome; Branchio-Otorenal Syndrome; BOR Syndromes; Branchio Oto Renal Syndrome; Branchio Otorenal Dysplasia; Branchio Otorenal Syndrome; Branchio-Oculo-Facial Syndromes; Branchio-Oto-Renal Syndromes; Branchio-Otorenal Dysplasias; Branchio-Otorenal Syndromes; Dysplasia, Branchio-Otorenal; Dysplasias, Branchio-Otorenal; Syndrome, Branchio-Oculo-Facial; Syndrome, Branchio-Oto-Renal; Syndrome, Branchio-Otorenal; Syndromes, BOR; Syndromes, Branchio-Oculo-Facial; Syndromes, Branchio-Oto-Renal; Syndromes, Branchio-Otorenal; Branchio-Oculo-Facial Syndrome; Branchio-Otorenal Dysplasia

Disease Context: Research Results

Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 422

Congenital Abnormalities: 9333

Multiple Abnormalities: 120

Branchio-Oto-Renal Syndrome: 20

Chromosome Disorders: 63

Branchio-Oto-Renal Syndrome: 20

Inborn Genetic Diseases: 549

Chromosome Disorders: 63

Branchio-Oto-Renal Syndrome: 20

Related Diseases

1.	Kidney Failure (Renal Failure)
2.	Oligohydramnios
3.	Syndrome
4.	Chronic Kidney Failure (Chronic Renal Failure)
5.	Pathologic Constriction (Stenosis)

Experts

1.	Kaiser, René: 1 article (09/2007)
2.	Müller, Dietmar: 1 article (09/2007)
3.	Posteguillo, Elena Guillén: 1 article (09/2007)
4.	Just, Walter: 1 article (09/2007)
5.	Hoskins, Bethan E: 1 article (04/2007)
6.	Kimberling, William J: 1 article (04/2007)
7.	Otto, Edgar A: 1 article (04/2007)
8.	Raymond, Richard M: 1 article (04/2007)
9.	Zou, Dan: 1 article (04/2007)
10.	Petit, Christine: 1 article (04/2007)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Branchio-Oto-Renal Syndrome:

1.	Nonsense Codon (Nonsense Mutation)IBA 10/01/2004 - "EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome." 01/01/1999 - "EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family." Order ALL the reference details at left...
2.	DNA (Deoxyribonucleic Acid)IBA 04/01/2006 - "We isolated genomic DNA from 15 patients with branchio-oto-renal (BOR) syndrome or BOR-related conditions" 10/01/1992 - "DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker" Order ALL the reference details at left...
3.	1,2-cyclohexanediamine (dach)IBA 09/15/2007 - "Exclusion of genes from the EYA-DACH-SIX-PAX pathway as candidates for Branchio-Oculo-Facial syndrome (BOFS)." 01/01/2002 - "Our results suggest that defective protein-protein interactions of the mutations in the EYA domain underlie BOR syndrome and that SIX, DACH, and/or G proteins are possibly involved in the pathogenic processes." 01/01/2002 - "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins." Order ALL the reference details at left...
4.	SilkIBA 12/01/1979 - "The branchio-oto-renal syndrome was described for the first time in 1974 by Melnick, Bixter and Silk, who reported its existence in a father and three of his children, with an association of a malformation of the middle ear (block of the stapes), of the inner ear (cochlear hypoplasia), bilateral pre-auricular fistulae, bilateral cervical fistulae and renal hypoplasia with or without displasia" Order ALL the reference details at left...
5.	Electron Transport Complex I (NADH-CoQ Reductase)IBA 07/01/1996 - "The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome." Order ALL the reference details at left...
6.	GTP-Binding Proteins (G-Protein)IBA 01/01/2002 - "Our results suggest that defective protein-protein interactions of the mutations in the EYA domain underlie BOR syndrome and that SIX, DACH, and/or G proteins are possibly involved in the pathogenic processes." 01/01/2002 - "Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins." Order ALL the reference details at left...
7.	Protein Tyrosine PhosphatasesIBA 06/01/2005 - "Using Drosophila to decipher how mutations associated with human branchio-oto-renal syndrome and optical defects compromise the protein tyrosine phosphatase and transcriptional functions of eyes absent." Order ALL the reference details at left...
8.	Transcription Factors (Transcription Factor)IBA 04/01/2007 - "Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome." Order ALL the reference details at left...
9.	Genetic Markers (Genetic Marker)IBA 10/01/1992 - "DNA from four generations of a family with autosomal dominant BOR syndrome have been typed with a series of genetic markers on the long arm of chromosome 8. Using two point linkage analysis, a significant lod score of Z = 4.0 at theta = 0.05 was obtained with the D8S165 microsatellite marker" Order ALL the reference details at left...
10.	CytosineIBA 01/01/2006 - "In one of the families all its members with BOR syndrome had deletion of cytosine in position 759 (759delC) in DNA sequence of EYA1 gene in exone 8. Clinical characteristics of BOR syndrome in the family are given" Order ALL the reference details at left...

Therapies and Procedures

1.	Transplants (Transplant) 10/01/1994 - "We describe a 15-year-old girl with chronic renal failure secondary to renal dysplasia and branchio-oto-renal syndrome, who received a cadaveric renal transplant at 8 years of age from a 25-year-old male donor" Order ALL the reference details at left...
2.	Ligation 11/01/2007 - "We examined six Danish families with BOR syndrome by assessing linkage to BOR loci, by performing EYA1 multiplex ligation-dependent probe amplification (MLPA) analysis for deletions and duplications and by sequencing of EYA1, SIX1 and SIX5" Order ALL the reference details at left...
3.	Renal Dialysis (Hemodialysis) 03/01/1984 - "A ten year old boy with renal failure secondary to the branchio-oto-renal syndrome had a severe anaphylactic reaction during his first hemodialysis" Order ALL the reference details at left...
4.	General Anesthesia 01/01/2007 - "The authors present three episodes of significant bradycardia in two siblings diagnosed with BOR syndrome during the sevoflurane general anesthesia" Order ALL the reference details at left...

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