MCID: BRN042
MIFTS: 34

Branchiootic Syndrome malady

Genetic diseases, Rare diseases, Ear diseases, Fetal diseases categories

Summaries for Branchiootic Syndrome

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Disease Ontology:9 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.

MalaCards based summary: Branchiootic Syndrome, also known as branchio-otic syndrome, is related to brachiootic syndrome 3 and branchiootorenal syndrome, and has symptoms including sacrococcygeal pilonidal abnormality, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Branchiootic Syndrome is EYA1 (eyes absent homolog 1 (Drosophila)), and among its related pathways is Transcriptional misregulation in cancer. Affiliated tissues include skin, and related mouse phenotype hearing/vestibular/ear.

Aliases & Classifications for Branchiootic Syndrome

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Sources:
60UMLS, 9Disease Ontology, 41NIH Rare Diseases, 43Novoseek, 47Orphanet, 22GTR, 26ICD10 via Orphanet
See all sources

Branchiootic Syndrome, Aliases & Descriptions:

Name: Branchiootic Syndrome 9 41
Branchio-Otic Syndrome 41 47 22
Branchiootic Dysplasia 9 41
Bo Syndrome 9 43
 
Branchiootic Syndrome 1 60
Bo Syndrome 1 41
Bos1 41
Bor 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Ear diseases


External Ids:

Disease Ontology9 DOID:0060232
Orphanet47 52429
ICD10 via Orphanet26 Q87.0

Related Diseases for Branchiootic Syndrome

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Graphical network of diseases related to Branchiootic Syndrome:



Diseases related to branchiootic syndrome

Symptoms for Branchiootic Syndrome

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Symptoms:

 47 (show all 18)
  • branchial/posterior auricular/preauricular/cheek cysts/fistulae
  • hearing loss/hypoacusia/deafness
  • dermoid sinus/dimple/pit (excluding sacral)
  • autosomal dominant inheritance
  • external ear anomalies
  • external auditory canal atresia/stenosis/agenesis
  • structural anomalies of middle ear/ossicles/tympanic cavity
  • structural anomalies of inner ear/cochlea/vestible/semicircular canals
  • sensorineural deafness/hearing loss
  • conductive deafness/hearing loss
  • branchial fistulae of the neck
  • facial palsy
  • facial structural asymmetry/facial hemiatrophy/facial hemihypertrophy
  • micrognathia/retrognathia/micrognathism/retrognathism
  • defect/anomaly of lacrimal system
  • lip pits/fistulae
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • preauricular/branchial tags/appendages

HPO human phenotypes related to Branchiootic Syndrome:

(show all 13)
id Description Frequency HPO Source Accession
1 sacrococcygeal pilonidal abnormality hallmark (90%) HP:0010767
2 conductive hearing impairment typical (50%) HP:0000405
3 sensorineural hearing impairment typical (50%) HP:0000407
4 atresia of the external auditory canal typical (50%) HP:0000413
5 external ear malformation typical (50%) HP:0008572
6 branchial fistula typical (50%) HP:0009795
7 cleft palate occasional (7.5%) HP:0000175
8 facial asymmetry occasional (7.5%) HP:0000324
9 micrognathia occasional (7.5%) HP:0000347
10 preauricular skin tag occasional (7.5%) HP:0000384
11 lacrimation abnormality occasional (7.5%) HP:0000632
12 facial palsy occasional (7.5%) HP:0010628
13 lip pit occasional (7.5%) HP:0100267

Drugs & Therapeutics for Branchiootic Syndrome

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Drug clinical trials:

Search ClinicalTrials for Branchiootic Syndrome

Search NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

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Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome22

Anatomical Context for Branchiootic Syndrome

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MalaCards organs/tissues related to Branchiootic Syndrome:

31
Skin

Animal Models for Branchiootic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootic Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.0SIX1, EYA1

Publications for Branchiootic Syndrome

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Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
1
A true branchial fistula in the context of branchiootic syndrome: challenges of diagnosis and management. (24933236)
2014
2
Branchiootic syndrome--a clinical case report and review of the literature. (22901925)
2012
3
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

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Clinvar genetic disease variations for Branchiootic Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897

Expression for genes affiliated with Branchiootic Syndrome

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Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for genes affiliated with Branchiootic Syndrome

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Pathways related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.0SIX1, EYA1

Compounds for genes affiliated with Branchiootic Syndrome

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GO Terms for genes affiliated with Branchiootic Syndrome

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

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:00725139.3SIX1, EYA1
2aorta morphogenesisGO:00359099.3SIX1, EYA1
3neuron fate specificationGO:00486659.3SIX1, EYA1
4pharyngeal system developmentGO:00600379.3EYA1, SIX1
5regulation of neuron differentiationGO:00456649.2SIX1, EYA1
6cochlea morphogenesisGO:00901039.2SIX1, EYA1
7middle ear morphogenesisGO:00424749.2EYA1, SIX1
8outflow tract morphogenesisGO:00031519.1SIX1, EYA1
9embryonic skeletal system morphogenesisGO:00487049.1SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:00016589.0EYA1, SIX1
11positive regulation of transcription from RNA polymerase II promoterGO:00459449.0SIX1, EYA1
12pattern specification processGO:00073898.9SIX1, EYA1
13sensory perception of soundGO:00076058.7SIX1, EYA1

Products for genes affiliated with Branchiootic Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Branchiootic Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet