MCID: BRN042
MIFTS: 38

Branchiootic Syndrome malady

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

Aliases & Classifications for Branchiootic Syndrome

About this section
Sources:
65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 47Novoseek, 51Orphanet, 24GTR, 28ICD10 via Orphanet
See all sources

Aliases & Descriptions for Branchiootic Syndrome:

Name: Branchiootic Syndrome 10 45 12
Branchiootic Dysplasia 10 45
Branchio-Otic Syndrome 51 24
Bo Syndrome 10 47
 
Branchiootic Syndrome 1 65
Bo Syndrome 1 45
Bos1 45
Bor 10


Classifications:



External Ids:

Disease Ontology10 DOID:0060232
Orphanet51 52429
ICD10 via Orphanet28 Q87.0

Summaries for Branchiootic Syndrome

About this section
Disease Ontology:10 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 branchiootic dysplasia, is related to branchiootorenal syndrome 1, with or without cataracts and branchiootic syndrome 1, and has symptoms including sacrococcygeal pilonidal abnormality, conductive hearing impairment and sensorineural hearing impairment. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include skin, and related mouse phenotypes are vision/eye and digestive/alimentary.

Related Diseases for Branchiootic Syndrome

About this section

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



Diseases related to branchiootic syndrome

Symptoms for Branchiootic Syndrome

About this section

Symptoms:

 51 (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

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

About this section

Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome24

Anatomical Context for Branchiootic Syndrome

About this section

MalaCards organs/tissues related to Branchiootic Syndrome:

33
Skin

Animal Models for Branchiootic Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Branchiootic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.2EYA1, NEUROD1, SIX1, SIX5, SIX6
2MP:00053817.9EYA1, NEUROD1, OPRK1, SIX1, TRPS1
3MP:00053797.7EYA1, NEUROD1, OPRK1, SIX1, SIX5, SIX6

Publications for Branchiootic Syndrome

About this section

Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
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

About this section

Clinvar genetic disease variations for Branchiootic Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EYA1EYA1, 2-BP INS, 870GTinsertionPathogenic
2EYA1EYA1, 8-BP DEL, NT297deletionPathogenic
3EYA1NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter)single nucleotide variantPathogenicrs121909202GRCh37Chr 8, 72156897: 72156897
4EYA1NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs)deletionPathogenicrs606231356GRCh38Chr 8, 71215477: 71215483

Expression for genes affiliated with Branchiootic Syndrome

About this section
Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for genes affiliated with Branchiootic Syndrome

About this section

GO Terms for genes affiliated with Branchiootic Syndrome

About this section

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1neuron fate specificationGO:004866510.5EYA1, SIX1
2middle ear morphogenesisGO:004247410.5EYA1, SIX1
3positive regulation of secondary heart field cardioblast proliferationGO:007251310.5EYA1, SIX1
4aorta morphogenesisGO:003590910.5EYA1, SIX1
5pharyngeal system developmentGO:006003710.4EYA1, SIX1
6anatomical structure developmentGO:004885610.4EYA1, SIX1
7pattern specification processGO:000738910.3EYA1, SIX1
8embryonic skeletal system morphogenesisGO:004870410.3EYA1, SIX1
9ureteric bud developmentGO:000165710.3EYA1, SIX1
10branching involved in ureteric bud morphogenesisGO:000165810.2EYA1, SIX1
11cochlea morphogenesisGO:009010310.2EYA1, SIX1
12regulation of protein localizationGO:003288010.2SIX1, TRIM17
13outflow tract morphogenesisGO:000315110.1EYA1, SIX1
14inner ear morphogenesisGO:00424729.9EYA1, SIX1
15neurogenesisGO:00220089.9NEUROD1, SIX1
16otic vesicle developmentGO:00715999.8EYA1, SIX1
17regulation of neuron differentiationGO:00456649.7EYA1, NEUROD1, SIX1
18organ morphogenesisGO:00098879.6EYA1, SIX6, TRPS1
19cell fate commitmentGO:00451659.6EYA1, NEUROD1, TRPS1
20inner ear developmentGO:00488399.5NEUROD1, SIX1
21transcription from RNA polymerase II promoterGO:00063668.3NEUROD1, SIX1, SIX6, TRPS1
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.0EYA1, NEUROD1, SIX1, SIX5, SIX6, TRPS1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.3NEUROD1, SIX1, SIX5
2sequence-specific DNA bindingGO:00435658.7NEUROD1, SIX1, SIX5, TRPS1

Sources for Branchiootic Syndrome

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet