MCID: BRN121
MIFTS: 17

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 69
Branchiootorenal Spectrum Disorders 25
Branchio-Otorenal Dysplasia 25
Branchiootorenal Dysplasia 25
Branchio-Otorenal Syndrome 25
Branchiootorenal Syndrome 25
Branchiootic Syndrome 1 69
Melnick-Fraser Syndrome 25
Branchiootic Syndrome 25
Bor Syndrome 25
Bo Syndrome 25
Bor 25
Bos 25

Classifications:



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 branchiootic syndrome 1 and branchiootic syndrome 3. An important gene associated with Branchiootorenal/branchiootic Syndrome is SIX1 (SIX Homeobox 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Affiliated tissues include kidney, and related phenotype is Increased Nanog expression.

Related Diseases for Branchiootorenal/branchiootic Syndrome

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



Diseases related to Branchiootorenal/branchiootic Syndrome

Symptoms & Phenotypes for Branchiootorenal/branchiootic Syndrome

GenomeRNAi Phenotypes related to Branchiootorenal/branchiootic Syndrome according to GeneCards Suite gene sharing:

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

Drugs & Therapeutics for Branchiootorenal/branchiootic Syndrome

Search Clinical Trials , 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:

39
Kidney

Publications for Branchiootorenal/branchiootic Syndrome

Variations for Branchiootorenal/branchiootic Syndrome

ClinVar genetic disease variations for Branchiootorenal/branchiootic Syndrome:

6 (show all 27)
id Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.922C> T (p.Arg308Ter) single nucleotide variant Pathogenic rs121909195 GRCh37 Chromosome 8, 72184037: 72184037
2 EYA1 EYA1, 1-BP DEL AND 2-BP INS, 1251T-CC indel Pathogenic
3 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
4 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
5 EYA1 EYA1, ALU INS, EX10 insertion Pathogenic
6 EYA1 NM_000503.5(EYA1): c.1695_1698delAAAG (p.Lys565Asnfs) deletion Pathogenic rs606231355 GRCh38 Chromosome 8, 71211156: 71211159
7 EYA1 NM_000503.5(EYA1): c.1319G> A (p.Arg440Gln) single nucleotide variant Pathogenic rs121909196 GRCh37 Chromosome 8, 72128968: 72128968
8 EYA1 EYA1, 1-BP INS, 387T insertion Pathogenic
9 EYA1 NM_000503.5(EYA1): c.1459T> C (p.Ser487Pro) single nucleotide variant Pathogenic rs121909200 GRCh37 Chromosome 8, 72127865: 72127865
10 EYA1 NM_000503.5(EYA1): c.1514T> G (p.Leu505Arg) single nucleotide variant Pathogenic rs121909201 GRCh37 Chromosome 8, 72127705: 72127705
11 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
12 EYA1 NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
13 EYA1 NM_172060.3(EYA1): c.867+5G> A single nucleotide variant Pathogenic rs606231357 GRCh38 Chromosome 8, 71271753: 71271753
14 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
15 EYA1 NM_000503.5(EYA1): c.1122delA (p.Leu374Phefs) deletion Pathogenic rs397517916 GRCh37 Chromosome 8, 72156856: 72156856
16 EYA1 NM_000503.5(EYA1): c.1361-1G> T single nucleotide variant Pathogenic rs397517917 GRCh37 Chromosome 8, 72127964: 72127964
17 EYA1 NM_000503.5(EYA1): c.1697_1698insT (p.Lys566Asnfs) insertion Pathogenic rs397517919 GRCh37 Chromosome 8, 72123391: 72123392
18 SIX1 NM_005982.3(SIX1): c.317T> G (p.Val106Gly) single nucleotide variant Pathogenic rs397515560 GRCh37 Chromosome 14, 61115591: 61115591
19 SIX1 NM_005982.3(SIX1): c.334C> T (p.Arg112Cys) single nucleotide variant Pathogenic rs397515561 GRCh37 Chromosome 14, 61115574: 61115574
20 SIX1 NM_005982.3(SIX1): c.50T> A (p.Val17Glu) single nucleotide variant Pathogenic rs397515562 GRCh37 Chromosome 14, 61115858: 61115858
21 EYA1 NC_000008.11: g.(?_71199264)_(71356523_?)del deletion Pathogenic GRCh37 Chromosome 8, 72111499: 72268758
22 EYA1 NM_000503.5(EYA1): c.1475+1G> C single nucleotide variant Pathogenic rs727503042 GRCh37 Chromosome 8, 72127848: 72127848
23 EYA1 NM_000503.5(EYA1): c.428G> A (p.Trp143Ter) single nucleotide variant Pathogenic rs727504494 GRCh38 Chromosome 8, 71317680: 71317680
24 EYA1 NM_172058.3(EYA1): c.(?_1598)-56_*(1968_?)del deletion Pathogenic GRCh37 Chromosome 8, 72109607: 72123547
25 EYA1 NM_000503.5(EYA1): c.1090G> T (p.Glu364Ter) single nucleotide variant Pathogenic rs876657689 GRCh38 Chromosome 8, 71244653: 71244653
26 EYA1 NM_000503.5(EYA1): c.896C> A (p.Ser299Ter) single nucleotide variant Pathogenic rs876657691 GRCh38 Chromosome 8, 71271828: 71271828
27 EYA1 NM_000503.5(EYA1): c.396_406delGCCGTACGGCA (p.Gln132Hisfs) deletion Pathogenic rs876657690 GRCh38 Chromosome 8, 71321746: 71321756

Expression for Branchiootorenal/branchiootic Syndrome

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

Pathways for Branchiootorenal/branchiootic Syndrome

Pathways related to Branchiootorenal/branchiootic Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.88 EYA1 SIX1

GO Terms for Branchiootorenal/branchiootic Syndrome

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

(show all 17)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.57 EYA1 SIX1
2 sensory perception of sound GO:0007605 9.56 EYA1 SIX1
3 inner ear morphogenesis GO:0042472 9.55 EYA1 SIX1
4 pattern specification process GO:0007389 9.54 EYA1 SIX1
5 outflow tract morphogenesis GO:0003151 9.52 EYA1 SIX1
6 embryonic skeletal system morphogenesis GO:0048704 9.51 EYA1 SIX1
7 ureteric bud development GO:0001657 9.49 EYA1 SIX1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.48 EYA1 SIX1
9 cochlea morphogenesis GO:0090103 9.46 EYA1 SIX1
10 regulation of neuron differentiation GO:0045664 9.43 EYA1 SIX1
11 middle ear morphogenesis GO:0042474 9.4 EYA1 SIX1
12 pharyngeal system development GO:0060037 9.37 EYA1 SIX1
13 neuron fate specification GO:0048665 9.32 EYA1 SIX1
14 anatomical structure development GO:0048856 9.26 EYA1 SIX1
15 aorta morphogenesis GO:0035909 9.16 EYA1 SIX1
16 otic vesicle development GO:0071599 8.96 EYA1 SIX1
17 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

Sources for Branchiootorenal/branchiootic Syndrome

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10 dbSNP
11 DGIdb
16 ExPASy
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