MCID: BRC061
MIFTS: 30

Brachiootic Syndrome 3 malady

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

Summaries for Brachiootic Syndrome 3

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48OMIM, 34MalaCards
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MalaCards: Brachiootic Syndrome 3, also known as branchio-otic syndrome, is related to branchiootorenal spectrum disorders and lacrimal duct obstruction, and has symptoms including facial palsy, lip pits/fistulae and external auditory canal atresia/stenosis/agenesis. An important gene associated with Brachiootic Syndrome 3 is SIX1 (SIX homeobox 1), and among its related pathways is Transcriptional misregulation in cancer. Related mouse phenotypes are hearing/vestibular/ear and craniofacial.

Description from OMIM:48 608389,120502,602588

Aliases & Classifications for Brachiootic Syndrome 3

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48OMIM, 50Orphanet, 27ICD10 via Orphanet
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Related Diseases for Brachiootic Syndrome 3

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18GeneCards, 19GeneDecks
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Diseases related to Brachiootic Syndrome 3 via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1branchiootorenal spectrum disorders10.0SIX1, EYA1
2lacrimal duct obstruction10.0SIX1, EYA1
3primary hyperoxaluria10.0EYA1, SIX1
4chronic kidney failure10.0SIX1, EYA1
5branchiootorenal syndrome10.0EYA1, SIX1
6renal agenesis9.9SIX1, EYA1

Graphical network of diseases related to Brachiootic Syndrome 3:



Diseases related to brachiootic syndrome 3

Symptoms for Brachiootic Syndrome 3

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48OMIM, 50Orphanet
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Clinical features from OMIM:

608389,120502,602588

Symptoms:

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

Drugs & Therapeutics for Brachiootic Syndrome 3

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Brachiootic Syndrome 3

Drug clinical trials:

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Search CenterWatch for Brachiootic Syndrome 3

Genetic Tests for Brachiootic Syndrome 3

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Anatomical Context for Brachiootic Syndrome 3

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Animal Models for Brachiootic Syndrome 3 or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Brachiootic Syndrome 3:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053779.3SIX1, EYA1
2MP:00053829.2SIX1, EYA1
3MP:00053679.2SIX1, EYA1
4MP:00053889.1EYA1, SIX1
5MP:00053699.1SIX1, EYA1
6MP:00053819.0SIX1, EYA1
7MP:00053918.8SIX1, EYA1

Publications for Brachiootic Syndrome 3

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Variations for Brachiootic Syndrome 3

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar)
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UniProtKB/Swiss-Prot genetic disease variations for Brachiootic Syndrome 3:

65
id Symbol AA change Variation ID SNP ID
1SIX1p.Arg110TrpVAR_031024
2SIX1p.Tyr129CysVAR_031025
3SIX1p.Val17GluVAR_064948
4SIX1p.His73ProVAR_064949
5SIX1p.Val106GlyVAR_064950
6SIX1p.Arg110GlnVAR_064951
7SIX1p.Arg112CysVAR_064952
8SIX1p.Trp122ArgVAR_064953

Clinvar genetic disease variations for Brachiootic Syndrome 3:

1
id Gene Name 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 Brachiootic Syndrome 3

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Brachiootic Syndrome 3

Search GEO for disease gene expression data for Brachiootic Syndrome 3.

Pathways for genes affiliated with Brachiootic Syndrome 3

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51PathCards, 31KEGG
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Pathways related to Brachiootic Syndrome 3 according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1SIX1, EYA1

Compounds for genes affiliated with Brachiootic Syndrome 3

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GO Terms for genes affiliated with Brachiootic Syndrome 3

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17Gene Ontology
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Biological processes related to Brachiootic Syndrome 3 according to GeneCards/GeneDecks:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:0725139.4SIX1, EYA1
2aorta morphogenesisGO:0359099.4SIX1, EYA1
3neuron fate specificationGO:0486659.4SIX1, EYA1
4pharyngeal system developmentGO:0600379.4EYA1, SIX1
5regulation of neuron differentiationGO:0456649.3SIX1, EYA1
6cochlea morphogenesisGO:0901039.3SIX1, EYA1
7middle ear morphogenesisGO:0424749.3EYA1, SIX1
8outflow tract morphogenesisGO:0031519.2SIX1, EYA1
9embryonic skeletal system morphogenesisGO:0487049.2SIX1, EYA1
10branching involved in ureteric bud morphogenesisGO:0016589.1EYA1, SIX1
11positive regulation of transcription from RNA polymerase II promoterGO:0459449.1SIX1, EYA1
12pattern specification processGO:0073899.0SIX1, EYA1
13sensory perception of soundGO:0076058.8SIX1, EYA1

Products for genes affiliated with Brachiootic Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Brachiootic Syndrome 3

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet