BOR
MCID: BRN042
MIFTS: 37

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 : 53 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 facial palsy 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:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 59 32 occasional (7.5%) Occasional (29-5%) HP:0010628
2 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
3 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
4 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
6 preauricular skin tag 59 32 occasional (7.5%) Occasional (29-5%) HP:0000384
7 facial asymmetry 59 32 occasional (7.5%) Occasional (29-5%) HP:0000324
8 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
9 preauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004467
10 branchial fistula 59 32 frequent (33%) Frequent (79-30%) HP:0009795
11 lip pit 59 32 occasional (7.5%) Occasional (29-5%) HP:0100267
12 morphological abnormality of the middle ear 59 32 frequent (33%) Frequent (79-30%) HP:0008609
13 hearing impairment 59 Very frequent (99-80%)
14 abnormality of the inner ear 59 Frequent (79-30%)
15 abnormality of the nasolacrimal system 59 Occasional (29-5%)
16 abnormality of the outer ear 59 Frequent (79-30%)
17 abnormal nasolacrimal system morphology 32 occasional (7.5%) HP:0000614

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 29 EYA1

Anatomical Context for Branchiootic Syndrome

MalaCards organs/tissues related to Branchiootic Syndrome:

41
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 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_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh38 Chromosome 8, 71244662: 71244662
5 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
6 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
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 8.8 SIX1 SIX5 SIX6

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.92 EYA1 EZH1 SIX1 SIX5 SIX6
2 transcription by RNA polymerase II GO:0006366 9.84 ERCC6 SIX1 SIX5 SIX6
3 branching involved in ureteric bud morphogenesis GO:0001658 9.51 EYA1 SIX1
4 ureteric bud development GO:0001657 9.49 EYA1 SIX1
5 regulation of neuron differentiation GO:0045664 9.48 EYA1 SIX1
6 cochlea morphogenesis GO:0090103 9.46 EYA1 SIX1
7 middle ear morphogenesis GO:0042474 9.43 EYA1 SIX1
8 mitochondrion organization GO:0007005 9.43 ATAD3A ATAD3B ATAD3C
9 pharyngeal system development GO:0060037 9.4 EYA1 SIX1
10 neuron fate specification GO:0048665 9.37 EYA1 SIX1
11 aorta morphogenesis GO:0035909 9.32 EYA1 SIX1
12 otic vesicle development GO:0071599 9.16 EYA1 SIX1
13 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.96 EYA1 SIX1
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 9.13 SIX1 SIX5 SIX6
2 distal enhancer DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001205 8.8 SIX1 SIX5 SIX6

Sources for Branchiootic Syndrome

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
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