MCID: BRN121
MIFTS: 20

Branchiootorenal/branchiootic Syndrome

Categories: Nephrological diseases

Aliases & Classifications for Branchiootorenal/branchiootic Syndrome

MalaCards integrated aliases for Branchiootorenal/branchiootic Syndrome:

Name: Branchiootorenal/branchiootic Syndrome 25
Branchio-Oto-Renal Syndrome 25 73
Branchiootorenal Spectrum Disorders 25
Branchio-Otorenal Dysplasia 25
Branchiootorenal Dysplasia 25
Branchio-Otorenal Syndrome 25
Branchiootorenal Syndrome 25
Melnick-Fraser Syndrome 25
Branchiootic Syndrome 1 73
Branchiootic Syndrome 25
Bor Syndrome 25
Bo Syndrome 25
Bos 25
Bor 25

Classifications:



External Ids:

UMLS 73 C1865143

Summaries for Branchiootorenal/branchiootic Syndrome

Genetics Home Reference : 25 Branchiootorenal (BOR) syndrome is a condition that disrupts the development of tissues in the neck and causes malformations of the ears and kidneys. The signs and symptoms of this condition vary widely, even among members of the same family. Branchiootic (BO) syndrome includes many of the same features as BOR syndrome, but affected individuals do not have kidney abnormalities. The two conditions are otherwise so similar that researchers often consider them together (BOR/BO syndrome or branchiootorenal spectrum disorders).

MalaCards based summary : Branchiootorenal/branchiootic Syndrome, also known as branchio-oto-renal syndrome, is related to branchiootorenal spectrum disorders and branchiootorenal syndrome. The drug Boron has been mentioned in the context of this disorder. Affiliated tissues include kidney, testes and bone.

Related Diseases for Branchiootorenal/branchiootic Syndrome

Diseases related to Branchiootorenal/branchiootic Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal spectrum disorders 12.4
2 branchiootorenal syndrome 11.9
3 buschke-ollendorff syndrome 11.8
4 branchiootic syndrome 1 11.6
5 branchiootorenal syndrome 1 11.2
6 chromosome 8q12.1-q21.2 deletion syndrome 11.2
7 branchiootic syndrome 11.1
8 branchiootic syndrome 2 11.0
9 bohring-opitz syndrome 11.0
10 branchiootic syndrome 3 11.0
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7

Graphical network of the top 20 diseases related to Branchiootorenal/branchiootic Syndrome:



Diseases related to Branchiootorenal/branchiootic Syndrome

Symptoms & Phenotypes for Branchiootorenal/branchiootic Syndrome

Drugs & Therapeutics for Branchiootorenal/branchiootic Syndrome

Drugs for Branchiootorenal/branchiootic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Boron Approved 7440-42-8

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Relation of Blood-boron Levels With Body Mass Index Unknown status NCT01400061

Search NIH Clinical Center for Branchiootorenal/branchiootic Syndrome

Genetic Tests for Branchiootorenal/branchiootic Syndrome

Anatomical Context for Branchiootorenal/branchiootic Syndrome

MalaCards organs/tissues related to Branchiootorenal/branchiootic Syndrome:

41
Kidney, Testes, Bone, Eye

Publications for Branchiootorenal/branchiootic Syndrome

Articles related to Branchiootorenal/branchiootic Syndrome:

(show top 50) (show all 53)
# Title Authors Year
1
Branchio-oto-renal syndrome presenting with syndrome of hyporeninemic hypoaldosteronism. ( 28937080 )
2017
2
Bilateral Compressive Optic Neuropathy from Renal Osteodystrophy Caused by Branchio-oto-renal Syndrome Stabilised After Parathyroidectomy. ( 29344072 )
2017
3
Novel EYA1 variants causing Branchio-oto-renal syndrome. ( 28583505 )
2017
4
Anatomic and Quantitative Temporal Bone CT for Preoperative Assessment of Branchio-Oto-Renal Syndrome. ( 26869444 )
2016
5
Branchio-oto-renal syndrome: comprehensive review based on nationwide surveillance in Japan. ( 24730701 )
2014
6
Recurrent 8q13.2-13.3 microdeletions associated with branchio-oto-renal syndrome are mediated by human endogenous retroviral (HERV) sequence blocks. ( 25135225 )
2014
7
Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation. ( 23506628 )
2013
8
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes. ( 23851940 )
2013
9
Mutation screening of the EYA1, SIX1, and SIX5 genes in an East Asian cohort with branchio-oto-renal syndrome. ( 22447252 )
2012
10
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. ( 21280147 )
2011
11
Young woman with branchio-oto-renal syndrome and a novel mutation in the EYA-1 gene. ( 21955869 )
2011
12
EYA1 mutations associated with the branchio-oto-renal syndrome result in defective otic development in Xenopus laevis. ( 19951260 )
2010
13
Branchio-oto-renal syndrome caused by partial EYA1 deletion due to LINE-1 insertion. ( 20130917 )
2010
14
Mitral valve prolapse as a new finding in branchio-oto-renal syndrome. ( 20845527 )
2010
15
HERV-mediated genomic rearrangement of EYA1 in an individual with branchio-oto-renal syndrome. ( 20979191 )
2010
16
A novel frameshift mutation in the EYA1 gene in a Korean family with branchio-oto-renal syndrome. ( 19667416 )
2009
17
A recurrent EYA1 mutation causing alternative RNA splicing in branchio-oto-renal syndrome: implications for molecular diagnostics and disease mechanism. ( 19206155 )
2009
18
Catweasel mice: a novel role for Six1 in sensory patch development and a model for branchio-oto-renal syndrome. ( 19389353 )
2009
19
Biochemical and functional characterization of six SIX1 Branchio-oto- renal syndrome mutations. ( 19497856 )
2009
20
SIX1 mutation screening in 247 branchio-oto-renal syndrome families: a recurrent missense mutation associated with BOR. ( 18330911 )
2008
21
Branchio-oto-renal syndrome. ( 19263692 )
2008
22
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR. ( 18220287 )
2008
23
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. ( 18177466 )
2008
24
Branchio-oto-renal syndrome. ( 17238186 )
2007
25
Transcription factor SIX5 is mutated in patients with branchio-oto- renal syndrome. ( 17357085 )
2007
26
Novel EYA1 mutation in a Korean branchio-oto-renal syndrome family. ( 17049623 )
2007
27
Phenotypic consequences in a Japanese family having branchio-oto-renal syndrome with a novel frameshift mutation in the gene EYA1. ( 17364338 )
2007
28
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. ( 17637804 )
2007
29
[Clinical symptoms of branchio-oto-renal syndrome in a family with a positive test for EYA1 gene]. ( 17419499 )
2006
30
Branchio-oto-renal syndrome associated mutations in Eyes Absent 1 result in loss of phosphatase activity. ( 16797546 )
2006
31
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. ( 15802522 )
2005
32
Identification of a novel EYA1 splice-site mutation in a Danish branchio-oto-renal syndrome family. ( 15684871 )
2004
33
A comparative study of Eya1 and Eya4 protein function and its implication in branchio-oto-renal syndrome and DFNA10. ( 15492887 )
2004
34
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. ( 15141091 )
2004
35
EYA1 gene nonsense mutation in a Japanese family with branchio-oto-renal syndrome. ( 15491396 )
2004
36
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. ( 15146463 )
2004
37
Sliding type hernia and ectopic pancreatic tissue in the stomach with renal agenesis and ear abnormalities: branchio-oto-renal syndrome or hemifacial microsomia with additional findings. ( 12884440 )
2003
38
Branchio-oto-renal syndrome. ( 14696767 )
2003
39
Temporal bone anomalies in the branchio-oto-renal syndrome: detailed computed tomographic and magnetic resonance imaging findings. ( 11875350 )
2002
40
Impaired interactions between mouse Eyal harboring mutations found in patients with branchio-oto-renal syndrome and Six, Dach, and G proteins. ( 11950062 )
2002
41
Progressive fluctuant hearing loss, enlarged vestibular aqueduct, and cochlear hypoplasia in branchio-oto-renal syndrome. ( 11568672 )
2001
42
Branchio-oto-renal syndrome: identification of a novel mutation in the EYA1 gene. ( 11465802 )
2001
43
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. ( 10762556 )
2000
44
A SALL1 mutation causes a branchio-oto-renal syndrome-like phenotype. ( 10928856 )
2000
45
Exclusion of the branchio-oto-renal syndrome locus (EYA1) from patients with branchio-oculo-facial syndrome. ( 10767004 )
2000
46
EYA1 nonsense mutation in a Japanese branchio-oto-renal syndrome family. ( 10429368 )
1999
47
Identification of three novel mutations in human EYA1 protein associated with branchio-oto-renal syndrome. ( 9603436 )
1998
48
Branchio-oto-renal syndrome. ( 9777487 )
1998
49
Branchio-oto-renal syndrome (BOR syndrome, Melnick-Fraser syndrome). ( 9557405 )
1998
50
Branchio-oto-renal syndrome: identification of novel mutations, molecular characterization, mutation distribution, and prospects for genetic testing. ( 10464653 )
1997

Variations for Branchiootorenal/branchiootic Syndrome

Expression for Branchiootorenal/branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootorenal/branchiootic Syndrome.

Pathways for Branchiootorenal/branchiootic Syndrome

GO Terms for Branchiootorenal/branchiootic Syndrome

Sources for Branchiootorenal/branchiootic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....