BOR
MCID: BRN042
MIFTS: 35

Branchiootic Syndrome (BOR)

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

Aliases & Classifications for Branchiootic Syndrome

Summaries for Branchiootic Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 52429Disease definitionBranchiootic syndrome is a rare, genetic multiple congenital anomalies syndrome characterized by second branchial arch anomalies (branchial cysts and fistulae), malformations of the outer, middle and inner ear associated with sensorineural, mixed or conductive hearing loss, and the absence of renal abnormalities. Typical ear findings consist of malformed auricles (e.g. lop or cupped ears), preauricular pits and/or tags, and middle and/or inner ear dysplasias (inculding cochlear, vestibular and semicircular channel hypoplasia, malformation of the ossicles and of middle ear space).Visit the Orphanet disease page for more resources.

MalaCards based summary : Branchiootic Syndrome, also known as branchiootic dysplasia, is related to branchiootorenal syndrome 1 and branchiootorenal syndrome. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include skin, and related phenotypes are preauricular pit and sensorineural hearing impairment

Disease Ontology : 12 A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome.

Related Diseases for Branchiootic Syndrome

Graphical network of the top 20 diseases related to Branchiootic Syndrome:



Diseases related to Branchiootic Syndrome

Symptoms & Phenotypes for Branchiootic Syndrome

Human phenotypes related to Branchiootic Syndrome:

60 33 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 preauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0004467
2 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
3 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
4 atresia of the external auditory canal 60 33 frequent (33%) Frequent (79-30%) HP:0000413
5 branchial fistula 60 33 frequent (33%) Frequent (79-30%) HP:0009795
6 morphological abnormality of the middle ear 60 33 frequent (33%) Frequent (79-30%) HP:0008609
7 facial palsy 60 33 occasional (7.5%) Occasional (29-5%) HP:0010628
8 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
9 micrognathia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000347
10 preauricular skin tag 60 33 occasional (7.5%) Occasional (29-5%) HP:0000384
11 facial asymmetry 60 33 occasional (7.5%) Occasional (29-5%) HP:0000324
12 lip pit 60 33 occasional (7.5%) Occasional (29-5%) HP:0100267
13 abnormal nasolacrimal system morphology 33 occasional (7.5%) HP:0000614
14 hearing impairment 60 Very frequent (99-80%)
15 abnormality of the inner ear 60 Frequent (79-30%)
16 abnormality of the nasolacrimal system 60 Occasional (29-5%)
17 abnormality of the outer ear 60 Frequent (79-30%)

Drugs & Therapeutics for Branchiootic Syndrome

Search Clinical Trials , NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

Genetic tests related to Branchiootic Syndrome:

# Genetic test Affiliating Genes
1 Branchiootic Syndrome 30 EYA1

Anatomical Context for Branchiootic Syndrome

MalaCards organs/tissues related to Branchiootic Syndrome:

42
Skin

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

# Title Authors Year
1
Novel partial duplication of EYA1 causes branchiootic syndrome in a large Brazilian family. ( 25926005 )
2015
2
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. ( 24933236 )
2014
3
Branchiootic syndrome--a clinical case report and review of the literature. ( 22901925 )
2012
4
A novel nonsense mutation in the EYA1 gene associated with branchio-oto-renal/branchiootic syndrome in an Afrikaner kindred. ( 16813606 )
2006

Variations for Branchiootic Syndrome

ClinVar genetic disease variations for Branchiootic Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
2 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
3 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
4 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
5 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
6 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
7 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh37 Chromosome 8, 72123474: 72123474
8 EYA1 NM_000503.5(EYA1): c.1615G> T (p.Glu539Ter) single nucleotide variant Likely pathogenic rs1060499603 GRCh38 Chromosome 8, 71211239: 71211239

Expression for Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for Branchiootic Syndrome

GO Terms for Branchiootic Syndrome

Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 9.13 SIX1 SIX5 SIX6
2 LUBAC complex GO:0071797 8.62 RBCK1 SHARPIN

Biological processes related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 branching involved in ureteric bud morphogenesis GO:0001658 9.54 EYA1 SIX1
2 ureteric bud development GO:0001657 9.52 EYA1 SIX1
3 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.51 RBCK1 SHARPIN
4 regulation of neuron differentiation GO:0045664 9.49 EYA1 SIX1
5 cochlea morphogenesis GO:0090103 9.48 EYA1 SIX1
6 middle ear morphogenesis GO:0042474 9.46 EYA1 SIX1
7 pharyngeal system development GO:0060037 9.43 EYA1 SIX1
8 neuron fate specification GO:0048665 9.4 EYA1 SIX1
9 aorta morphogenesis GO:0035909 9.37 EYA1 SIX1
10 otic vesicle development GO:0071599 9.32 EYA1 SIX1
11 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.26 EYA1 SIX1
12 mitochondrion organization GO:0007005 9.26 ATAD3A ATAD3B ATAD3C SHARPIN
13 protein linear polyubiquitination GO:0097039 9.16 RBCK1 SHARPIN
14 anatomical structure development GO:0048856 8.92 EYA1 SIX1 SIX5 SIX6

Molecular functions related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 transcription regulatory region sequence-specific DNA binding GO:0000976 8.8 SIX1 SIX5 SIX6

Sources for Branchiootic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....