MCID: BRN046
MIFTS: 19

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 24 29 6

Characteristics:

GeneReviews:

24
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 is related to branchiootorenal/branchiootic syndrome and branchiootorenal syndrome 1. An important gene associated with Branchiootorenal Spectrum Disorders is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1), and among its related pathways/superpathways is Transcriptional misregulation in cancer. Related phenotypes are Increased Nanog expression and Increased Nanog expression

GeneReviews: NBK1380

Related Diseases for Branchiootorenal Spectrum Disorders

Diseases in the Branchiootorenal Syndrome family:

Branchiootorenal Syndrome 1 Branchiootorenal Syndrome 2
Branchiootorenal Spectrum Disorders

Diseases related to Branchiootorenal Spectrum Disorders via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootorenal/branchiootic syndrome 11.7
2 branchiootorenal syndrome 1 9.8 EYA1 SIX1
3 deafness, autosomal dominant 23 9.8 EYA1 SIX1
4 lacrimal duct obstruction 9.7 EYA1 SIX1
5 deafness, autosomal dominant 10 9.7 EYA1 SIX1
6 branchiootic syndrome 9.6 EYA1 SIX1
7 otofaciocervical syndrome 1 9.6 EYA1 LOC105375894
8 branchiootorenal syndrome 9.5 EYA1 SIX1
9 renal hypodysplasia/aplasia 1 9.2 EYA1 SIX1

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
# 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

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:

# Genetic test Affiliating Genes
1 Branchiootorenal Spectrum Disorders 29

Anatomical Context for Branchiootorenal Spectrum Disorders

Publications for Branchiootorenal Spectrum Disorders

Articles related to Branchiootorenal Spectrum Disorders:

# 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
(show top 50) (show all 216)
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh37 Chromosome 8, 72184119: 72184119
2 EYA1 NM_000503.5(EYA1): c.840C> A (p.Ile280=) single nucleotide variant Benign/Likely benign rs55972891 GRCh38 Chromosome 8, 71271884: 71271884
3 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh37 Chromosome 8, 72246370: 72246370
4 EYA1 NM_000503.5(EYA1): c.164C> T (p.Thr55Met) single nucleotide variant Conflicting interpretations of pathogenicity rs201434219 GRCh38 Chromosome 8, 71334135: 71334135
5 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh37 Chromosome 8, 72129273: 72129273
6 EYA1 NM_000503.5(EYA1): c.1141-15T> G single nucleotide variant Benign/Likely benign rs186249248 GRCh38 Chromosome 8, 71217038: 71217038
7 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh37 Chromosome 8, 72211364: 72211364
8 EYA1 NM_000503.5(EYA1): c.744G> A (p.Thr248=) single nucleotide variant Benign/Likely benign rs10098224 GRCh38 Chromosome 8, 71299129: 71299129
9 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh37 Chromosome 8, 72234088: 72234088
10 EYA1 NM_000503.5(EYA1): c.299C> A (p.Thr100Asn) single nucleotide variant Uncertain significance rs373501480 GRCh38 Chromosome 8, 71321853: 71321853
11 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh37 Chromosome 8, 72111663: 72111663
12 EYA1 NM_000503.5(EYA1): c.1699-8T> C single nucleotide variant Conflicting interpretations of pathogenicity rs201537030 GRCh38 Chromosome 8, 71199428: 71199428
13 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh38 Chromosome 8, 71215629: 71215629
14 EYA1 NM_000503.5(EYA1): c.1460C> T (p.Ser487Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139717960 GRCh37 Chromosome 8, 72127864: 72127864
15 SIX1 NM_005982.3(SIX1): c.162G> A (p.Ala54=) single nucleotide variant Benign/Likely benign rs150550985 GRCh38 Chromosome 14, 60649028: 60649028
16 SIX1 NM_005982.3(SIX1): c.162G> A (p.Ala54=) single nucleotide variant Benign/Likely benign rs150550985 GRCh37 Chromosome 14, 61115746: 61115746
17 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh37 Chromosome 8, 72110265: 72110265
18 EYA1 NM_000503.5(EYA1): c.*1310G> A single nucleotide variant Likely benign rs147323889 GRCh38 Chromosome 8, 71198030: 71198030
19 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh37 Chromosome 8, 72111552: 72111552
20 EYA1 NM_000503.5(EYA1): c.*23G> A single nucleotide variant Likely benign rs373876510 GRCh38 Chromosome 8, 71199317: 71199317
21 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh38 Chromosome 8, 71215599: 71215599
22 EYA1 NM_000503.5(EYA1): c.1475+15G> A single nucleotide variant Likely benign rs373917012 GRCh37 Chromosome 8, 72127834: 72127834
23 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh37 Chromosome 8, 72129029: 72129029
24 EYA1 NM_000503.5(EYA1): c.1258T> C (p.Leu420=) single nucleotide variant Likely benign rs200074362 GRCh38 Chromosome 8, 71216794: 71216794
25 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh37 Chromosome 8, 72129098: 72129098
26 EYA1 NM_000503.5(EYA1): c.1200-11C> A single nucleotide variant Benign/Likely benign rs181457812 GRCh38 Chromosome 8, 71216863: 71216863
27 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh37 Chromosome 8, 72183989: 72183989
28 EYA1 NM_000503.5(EYA1): c.966+4C> T single nucleotide variant Benign/Likely benign rs139429307 GRCh38 Chromosome 8, 71271754: 71271754
29 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh37 Chromosome 8, 72229782: 72229782
30 EYA1 NM_000503.5(EYA1): c.556+5G> C single nucleotide variant Uncertain significance rs886063088 GRCh38 Chromosome 8, 71317547: 71317547
31 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh37 Chromosome 8, 72274069: 72274069
32 EYA1 NM_000503.5(EYA1): c.-242T> G single nucleotide variant Uncertain significance rs886063093 GRCh38 Chromosome 8, 71361834: 71361834
33 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh37 Chromosome 8, 72274090: 72274090
34 EYA1 NM_000503.5(EYA1): c.-263C> T single nucleotide variant Uncertain significance rs146081509 GRCh38 Chromosome 8, 71361855: 71361855
35 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh37 Chromosome 8, 72274098: 72274098
36 EYA1 NM_000503.5(EYA1): c.-271G> A single nucleotide variant Benign rs73684755 GRCh38 Chromosome 8, 71361863: 71361863
37 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh37 Chromosome 8, 72274256: 72274256
38 EYA1 NM_000503.5(EYA1): c.-429G> A single nucleotide variant Uncertain significance rs886063094 GRCh38 Chromosome 8, 71362021: 71362021
39 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh37 Chromosome 8, 72274335: 72274335
40 EYA1 NM_000503.5(EYA1): c.-508A> G single nucleotide variant Uncertain significance rs886063095 GRCh38 Chromosome 8, 71362100: 71362100
41 EYA1 NM_000503.5(EYA1): c.-565_-564dupAA duplication Uncertain significance rs886063098 GRCh37 Chromosome 8, 72274391: 72274392
42 EYA1 NM_000503.5(EYA1): c.-565_-564dupAA duplication Uncertain significance rs886063098 GRCh38 Chromosome 8, 71362156: 71362157
43 EYA1 NM_000503.5(EYA1): c.-589C> A single nucleotide variant Uncertain significance rs886063099 GRCh37 Chromosome 8, 72274416: 72274416
44 EYA1 NM_000503.5(EYA1): c.-589C> A single nucleotide variant Uncertain significance rs886063099 GRCh38 Chromosome 8, 71362181: 71362181
45 EYA1 NM_000503.5(EYA1): c.*1324T> C single nucleotide variant Benign rs56115941 GRCh38 Chromosome 8, 71198016: 71198016
46 EYA1 NM_000503.5(EYA1): c.*1324T> C single nucleotide variant Benign rs56115941 GRCh37 Chromosome 8, 72110251: 72110251
47 EYA1 NM_000503.5(EYA1): c.*1275G> A single nucleotide variant Likely benign rs192113669 GRCh37 Chromosome 8, 72110300: 72110300
48 EYA1 NM_000503.5(EYA1): c.*1275G> A single nucleotide variant Likely benign rs192113669 GRCh38 Chromosome 8, 71198065: 71198065
49 EYA1 NM_000503.5(EYA1): c.*1263C> T single nucleotide variant Likely benign rs140308724 GRCh37 Chromosome 8, 72110312: 72110312
50 EYA1 NM_000503.5(EYA1): c.*1263C> T single nucleotide variant Likely benign rs140308724 GRCh38 Chromosome 8, 71198077: 71198077

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:

# Super pathways Score Top Affiliating Genes
1 10.89 EYA1 SIX1

GO Terms for Branchiootorenal Spectrum Disorders

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

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

Sources for Branchiootorenal Spectrum Disorders

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....