MCID: BRN046
MIFTS: 25

Branchiootorenal Spectrum Disorders malady

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

Aliases & Classifications for Branchiootorenal Spectrum Disorders

Aliases & Descriptions for Branchiootorenal Spectrum Disorders:

Name: Branchiootorenal Spectrum Disorders 23 24 29
Branchiootorenal Syndrome 24
Branchiootic Syndrome 1 69
Branchiootic Syndrome 24

Characteristics:

GeneReviews:

23
Penetrance Based on careful clinical studies of large pedigrees, branchiootorenal spectrum disorders appear to have 100% penetrance, although expressivity is highly variable [chang et al 2004]...

Classifications:



Summaries for Branchiootorenal Spectrum Disorders

MalaCards based summary : Branchiootorenal Spectrum Disorders, also known as branchiootorenal syndrome, is related to branchiootorenal syndrome and branchiootic syndrome 1. An important gene associated with Branchiootorenal Spectrum Disorders is SIX5 (SIX Homeobox 5), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Related phenotypes are Increased Nanog expression and endocrine/exocrine gland

GeneReviews: NBK1380

Related Diseases for Branchiootorenal Spectrum Disorders

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



Diseases related to Branchiootorenal Spectrum Disorders

Symptoms & Phenotypes for Branchiootorenal Spectrum Disorders

GenomeRNAi Phenotypes related to Branchiootorenal Spectrum Disorders 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 EYA1 SIX1
2 Increased Nanog expression GR00371-A-5 8.8 EYA1

MGI Mouse Phenotypes related to Branchiootorenal Spectrum Disorders:

44
id 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 Disorders

Search Clinical Trials , NIH Clinical Center for Branchiootorenal Spectrum Disorders

Genetic Tests for Branchiootorenal Spectrum Disorders

Genetic tests related to Branchiootorenal Spectrum Disorders:

id Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders 29 24 SIX5

Anatomical Context for Branchiootorenal Spectrum Disorders

Publications for Branchiootorenal Spectrum Disorders

Articles related to Branchiootorenal Spectrum Disorders:

id Title Authors Year
1
Using Xenopus to discover new genes involved in branchiootorenal spectrum disorders. ( 26117063 )
2015
2
Branchiootorenal Spectrum Disorders ( 20301554 )
1993

Variations for Branchiootorenal Spectrum Disorders

ClinVar genetic disease variations for Branchiootorenal Spectrum Disorders:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
2 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
3 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
4 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897

Expression for Branchiootorenal Spectrum Disorders

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

Pathways for Branchiootorenal Spectrum Disorders

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

id Super pathways Score Top Affiliating Genes
1 10.88 EYA1 SIX1

GO Terms for Branchiootorenal Spectrum Disorders

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

(show all 18)
id Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.75 EYA1 SIX1 SIX5
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.73 EYA1 SIX1 SIX5
3 sensory perception of sound GO:0007605 9.57 EYA1 SIX1
4 inner ear morphogenesis GO:0042472 9.55 EYA1 SIX1
5 pattern specification process GO:0007389 9.54 EYA1 SIX1
6 embryonic skeletal system morphogenesis GO:0048704 9.52 EYA1 SIX1
7 outflow tract morphogenesis GO:0003151 9.51 EYA1 SIX1
8 ureteric bud development GO:0001657 9.49 EYA1 SIX1
9 branching involved in ureteric bud morphogenesis GO:0001658 9.48 EYA1 SIX1
10 regulation of neuron differentiation GO:0045664 9.46 EYA1 SIX1
11 cochlea morphogenesis GO:0090103 9.43 EYA1 SIX1
12 middle ear morphogenesis GO:0042474 9.4 EYA1 SIX1
13 pharyngeal system development GO:0060037 9.37 EYA1 SIX1
14 neuron fate specification GO:0048665 9.32 EYA1 SIX1
15 anatomical structure development GO:0048856 9.26 EYA1 SIX1
16 aorta morphogenesis GO:0035909 9.16 EYA1 SIX1
17 otic vesicle development GO:0071599 8.96 EYA1 SIX1
18 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

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

id Name GO ID Score Top Affiliating Genes
1 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 8.62 SIX1 SIX5

Sources for Branchiootorenal Spectrum Disorders

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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