BOR2
MCID: BRN086
MIFTS: 32

Branchiootorenal Syndrome 2 (BOR2)

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

Aliases & Classifications for Branchiootorenal Syndrome 2

MalaCards integrated aliases for Branchiootorenal Syndrome 2:

Name: Branchiootorenal Syndrome 2 56 12 73 29 13 6 15 71
Bor2 56 12 73
Branchio-Oto-Renal Syndrome Type 2 73
Branchiootorenal Syndrome, Type 2 39
Branchio-Oto-Renal Dysplasia 2 73
Branchiootorenal Dysplasia 2 73
Bor Syndrome 2 73

Characteristics:

HPO:

31
branchiootorenal syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111424
OMIM 56 610896
MeSH 43 D019280
MedGen 41 C1970479
UMLS 71 C1970479

Summaries for Branchiootorenal Syndrome 2

UniProtKB/Swiss-Prot : 73 Branchiootorenal syndrome 2: A syndrome characterized by branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, structural defects of the outer, middle or inner ear, and renal malformations.

MalaCards based summary : Branchiootorenal Syndrome 2, also known as bor2, is related to branchiootorenal spectrum disorder and papillorenal syndrome. An important gene associated with Branchiootorenal Syndrome 2 is SIX5 (SIX Homeobox 5). Affiliated tissues include skin, and related phenotypes are hearing impairment and renal insufficiency

Disease Ontology : 12 A branchiootorenal syndrome that has material basis in heterozygous mutation in SIX5 on chromosome 19q13.32.

More information from OMIM: 610896

Related Diseases for Branchiootorenal Syndrome 2

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorder

Diseases related to Branchiootorenal Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 11, show less)
# Related Disease Score Top Affiliating Genes
1 branchiootorenal spectrum disorder 10.1 SIX5 SIX1 EYA1
2 papillorenal syndrome 10.1 SIX5 SIX1 EYA1
3 myotonic dystrophy 10.0 SIX5 LOC107075317 DM1-AS
4 branchiootorenal syndrome 1 10.0 SIX5 SIX1 EYA1
5 townes-brocks syndrome 10.0 SIX5 SIX1 EYA1
6 deafness, autosomal dominant 10 10.0 SIX1 EYA1
7 branchiootic syndrome 10.0 SIX5 SIX1 EYA1
8 cakut 9.9 SIX5 SIX1 EYA1
9 vesicoureteral reflux 1 9.9 SIX5 SIX1 EYA1
10 renal hypoplasia 9.8 SIX1 EYA1
11 branchiootorenal syndrome 9.7 SIX5 SIX1 LOC107075317 EYA1 DM1-AS

Graphical network of the top 20 diseases related to Branchiootorenal Syndrome 2:



Diseases related to Branchiootorenal Syndrome 2

Symptoms & Phenotypes for Branchiootorenal Syndrome 2

Human phenotypes related to Branchiootorenal Syndrome 2:

31 (showing 5, show less)
# Description HPO Frequency HPO Source Accession
1 hearing impairment 31 HP:0000365
2 renal insufficiency 31 HP:0000083
3 preauricular skin tag 31 HP:0000384
4 renal dysplasia 31 HP:0000110
5 hemifacial hypoplasia 31 HP:0011332

Clinical features from OMIM:

610896

Drugs & Therapeutics for Branchiootorenal Syndrome 2

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Syndrome 2

Genetic Tests for Branchiootorenal Syndrome 2

Genetic tests related to Branchiootorenal Syndrome 2:

# Genetic test Affiliating Genes
1 Branchiootorenal Syndrome 2 29 SIX5

Anatomical Context for Branchiootorenal Syndrome 2

MalaCards organs/tissues related to Branchiootorenal Syndrome 2:

40
Skin

Publications for Branchiootorenal Syndrome 2

Articles related to Branchiootorenal Syndrome 2:

(showing 10, show less)
# Title Authors PMID Year
1
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. 6 56
21280147 2011
2
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 6 56
17357085 2007
3
A map of the interactome network of the metazoan C. elegans. 56
14704431 2004
4
Branchiootorenal Spectrum Disorder 6
20301554 1999
5
Pumpkin rootstock improves the growth and development of watermelon by enhancing uptake and transport of boron and regulating the gene expression. 61
32563044 2020
6
Linking hydrogen-mediated boron toxicity tolerance with improvement of root elongation, water status and reactive oxygen species balance: a case study for rice. 61
27616208 2016
7
Roles of BOR2, a boron exporter, in cross linking of rhamnogalacturonan II and root elongation under boron limitation in Arabidopsis. 61
24114060 2013
8
Combination of high-dose melphalan and bortezomib as conditioning regimen for autologous peripheral blood stem cell transplantation in multiple myeloma. 61
23877150 2013
9
[Cloning a gene related to resistance to TuMV in cabbage]. 61
12143316 2002
10
Allelism of pleiotropic drug resistance in Saccharomyces cerevisiae. 61
6762918 1982

Variations for Branchiootorenal Syndrome 2

ClinVar genetic disease variations for Branchiootorenal Syndrome 2:

6 (showing 7, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX5 NM_175875.5(SIX5):c.886G>A (p.Ala296Thr)SNV Pathogenic 8599 rs80356462 19:46270331-46270331 19:45767073-45767073
2 SIX5 NM_175875.5(SIX5):c.1093G>A (p.Gly365Arg)SNV Pathogenic 8600 rs80356463 19:46270124-46270124 19:45766866-45766866
3 SIX5 NM_175875.5(SIX5):c.472G>A (p.Ala158Thr)SNV Conflicting interpretations of pathogenicity 8598 rs80356461 19:46271631-46271631 19:45768373-45768373
4 SIX5 NM_175875.5(SIX5):c.1802C>T (p.Pro601Leu)SNV Uncertain significance 829852 19:46269177-46269177 19:45765919-45765919
5 SIX5 NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)SNV Uncertain significance 8601 rs80356464 19:46269324-46269324 19:45766066-45766066
6 SIX5 NM_175875.5(SIX5):c.1261G>A (p.Val421Ile)SNV Uncertain significance 224344 rs1057519372 19:46269956-46269956 19:45766698-45766698
7 SIX5 NM_175875.5(SIX5):c.2077G>A (p.Val693Met)SNV Benign 262913 rs2341097 19:46268902-46268902 19:45765644-45765644

UniProtKB/Swiss-Prot genetic disease variations for Branchiootorenal Syndrome 2:

73 (showing 4, show less)
# Symbol AA change Variation ID SNP ID
1 SIX5 p.Ala158Thr VAR_032941 rs80356461
2 SIX5 p.Ala296Thr VAR_032942 rs80356462
3 SIX5 p.Gly365Arg VAR_032943 rs80356463
4 SIX5 p.Thr552Met VAR_032944 rs80356464

Expression for Branchiootorenal Syndrome 2

Search GEO for disease gene expression data for Branchiootorenal Syndrome 2.

Pathways for Branchiootorenal Syndrome 2

GO Terms for Branchiootorenal Syndrome 2

Cellular components related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

(showing 1, show less)
# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.8 TAF7 SIX5 SIX1

Biological processes related to Branchiootorenal Syndrome 2 according to GeneCards Suite gene sharing:

(showing 12, show less)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.91 ZNF143 TAF7 SIX5 SIX1 EYA1
2 branching involved in ureteric bud morphogenesis GO:0001658 9.49 SIX1 EYA1
3 ureteric bud development GO:0001657 9.48 SIX1 EYA1
4 regulation of neuron differentiation GO:0045664 9.46 SIX1 EYA1
5 cochlea morphogenesis GO:0090103 9.43 SIX1 EYA1
6 middle ear morphogenesis GO:0042474 9.4 SIX1 EYA1
7 pharyngeal system development GO:0060037 9.37 SIX1 EYA1
8 neuron fate specification GO:0048665 9.32 SIX1 EYA1
9 aorta morphogenesis GO:0035909 9.26 SIX1 EYA1
10 otic vesicle development GO:0071599 9.16 SIX1 EYA1
11 anatomical structure development GO:0048856 9.13 SIX5 SIX1 EYA1
12 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 SIX1 EYA1

Sources for Branchiootorenal Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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