MCID: BRN138
MIFTS: 22

Branchiootorenal Spectrum Disorder

Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Branchiootorenal Spectrum Disorder

MalaCards integrated aliases for Branchiootorenal Spectrum Disorder:

Name: Branchiootorenal Spectrum Disorder 24

Characteristics:

GeneReviews:

24
Penetrance Based on careful clinical studies of large pedigrees, branchiootorenal spectrum disorder appears to have 100% penetrance, although expressivity is highly variable [chang et al 2004].

Classifications:



Summaries for Branchiootorenal Spectrum Disorder

MalaCards based summary : Branchiootorenal Spectrum Disorder is related to renal hypodysplasia/aplasia 1 and branchiootorenal syndrome 1. An important gene associated with Branchiootorenal Spectrum Disorder is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include eye and bone, and related phenotypes are Increased Nanog expression and Increased Nanog expression

GeneReviews: NBK1380

Related Diseases for Branchiootorenal Spectrum Disorder

Graphical network of the top 20 diseases related to Branchiootorenal Spectrum Disorder:



Diseases related to Branchiootorenal Spectrum Disorder

Symptoms & Phenotypes for Branchiootorenal Spectrum Disorder

GenomeRNAi Phenotypes related to Branchiootorenal Spectrum Disorder according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 8.8 EYA1 SIX1
2 Increased Nanog expression GR00371-A-5 8.8 EYA1

MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.33 EYA1 SIX1 SIX5
2 muscle MP:0005369 9.13 EYA1 SIX1 SIX5
3 vision/eye MP:0005391 8.8 EYA1 SIX1 SIX5

Drugs & Therapeutics for Branchiootorenal Spectrum Disorder

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Spectrum Disorder

Genetic Tests for Branchiootorenal Spectrum Disorder

Anatomical Context for Branchiootorenal Spectrum Disorder

MalaCards organs/tissues related to Branchiootorenal Spectrum Disorder:

41
Eye, Bone

Publications for Branchiootorenal Spectrum Disorder

Articles related to Branchiootorenal Spectrum Disorder:

(show all 38)
# Title Authors PMID Year
1
Identification of novel cis-regulatory elements of Eya1 in Xenopus laevis using BAC recombineering. 4
29101371 2017
2
Congenital hearing loss. 4
28079113 2017
3
Timing, rates and spectra of human germline mutation. 4
26656846 2016
4
A framework for the interpretation of de novo mutation in human disease. 4
25086666 2014
5
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. 4
24730701 2014
6
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. 4
23851940 2013
7
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans. 4
21700001 2011
8
Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. 4
21280147 2011
9
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. 4
20979191 2010
10
Biochemical and functional characterization of six SIX1 Branchio-oto-renal syndrome mutations. 4
19497856 2009
11
Multiple evolutionarily conserved enhancers control expression of Eya1. 4
18816442 2008
12
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. 4
18220287 2008
13
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. 4
18330911 2008
14
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 4
17637804 2007
15
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 4
17357085 2007
16
The transcription factor six1 inhibits neuronal and promotes hair cell fate in the developing zebrafish (Danio rerio) inner ear. 4
17035528 2006
17
SIX1 mutation associated with enlargement of the vestibular aqueduct in a patient with branchio-oto syndrome. 4
16652090 2006
18
Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. 4
16441263 2006
19
Slc12a2 is a direct target of two closely related homeobox proteins, Six1 and Six4. 4
15955062 2005
20
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. 4
15802522 2005
21
Evidence of progression and fluctuation of hearing impairment in branchio-oto-renal syndrome. 4
15726843 2004
22
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. 4
15492887 2004
23
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. 4
15146463 2004
24
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 4
15141091 2004
25
A map of the interactome network of the metazoan C. elegans. 4
14704431 2004
26
Eya protein phosphatase activity regulates Six1-Dach-Eya transcriptional effects in mammalian organogenesis. 4
14628042 2003
27
Functional dissection of eyes absent reveals new modes of regulation within the retinal determination gene network. 4
12917324 2003
28
Inner ear anomalies are frequent but nonobligatory features of the branchio-oto-renal syndrome. 4
12220207 2002
29
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. 4
11875350 2002
30
The presence of a widened vestibular aqueduct and progressive sensorineural hearing loss in the branchio-oto-renal syndrome. A family study. 4
11397497 2001
31
Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM. 4
11409867 2001
32
A novel locus (DFNA23) for prelingual autosomal dominant nonsyndromic hearing loss maps to 14q21-q22 in a Swiss German kindred. 4
10777717 2000
33
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 4
10655545 2000
34
Cooperation of six and eya in activation of their target genes through nuclear translocation of Eya. 4
10490620 1999
35
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. 4
9603436 1998
36
Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss. 4
7468659 1980
37
Pa2G4 is a novel Six1 co-factor that is required for neural crest and otic development. 38
27940157 2017
38
Branchiootorenal Spectrum Disorder 38
20301554 1999

Variations for Branchiootorenal Spectrum Disorder

Expression for Branchiootorenal Spectrum Disorder

Search GEO for disease gene expression data for Branchiootorenal Spectrum Disorder.

Pathways for Branchiootorenal Spectrum Disorder

Pathways related to Branchiootorenal Spectrum Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.89 SIX1 EYA1

GO Terms for Branchiootorenal Spectrum Disorder

Cellular components related to Branchiootorenal Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.62 SIX5 SIX1

Biological processes related to Branchiootorenal Spectrum Disorder according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.74 SIX5 SIX1 EYA1
2 multicellular organism development GO:0007275 9.73 SIX5 SIX1 EYA1
3 sensory perception of sound GO:0007605 9.58 SIX1 EYA1
4 pattern specification process GO:0007389 9.55 SIX1 EYA1
5 inner ear morphogenesis GO:0042472 9.54 SIX1 EYA1
6 outflow tract morphogenesis GO:0003151 9.52 SIX1 EYA1
7 embryonic skeletal system morphogenesis GO:0048704 9.51 SIX1 EYA1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.49 SIX1 EYA1
9 ureteric bud development GO:0001657 9.48 SIX1 EYA1
10 regulation of neuron differentiation GO:0045664 9.46 SIX1 EYA1
11 cochlea morphogenesis GO:0090103 9.43 SIX1 EYA1
12 middle ear morphogenesis GO:0042474 9.4 SIX1 EYA1
13 pharyngeal system development GO:0060037 9.37 SIX1 EYA1
14 neuron fate specification GO:0048665 9.32 SIX1 EYA1
15 aorta morphogenesis GO:0035909 9.26 SIX1 EYA1
16 otic vesicle development GO:0071599 9.16 SIX1 EYA1
17 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.96 SIX1 EYA1
18 anatomical structure development GO:0048856 8.8 SIX5 SIX1 EYA1

Molecular functions related to Branchiootorenal Spectrum Disorder according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.62 SIX5 SIX1

Sources for Branchiootorenal Spectrum Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
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44 MeSH
45 MESH via Orphanet
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49 NCI
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51 NDF-RT
54 NINDS
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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