MCID: BRN046
MIFTS: 17

Branchiootorenal Spectrum Disorders

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

Aliases & Classifications for Branchiootorenal Spectrum Disorders

MalaCards integrated aliases 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 EYA1 (EYA Transcriptional Coactivator And Phosphatase 1).

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

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 EYA1, 2-BP INS, 870GT insertion Pathogenic
2 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
3 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
4 EYA1 NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483

Expression for Branchiootorenal Spectrum Disorders

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

Pathways for Branchiootorenal Spectrum Disorders

GO Terms for Branchiootorenal Spectrum Disorders

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

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 8.62 EYA1 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....