MCID: BRN042
MIFTS: 37

Branchiootic Syndrome malady

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

Aliases & Classifications for Branchiootic Syndrome

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Sources:
65UMLS, 10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 47Novoseek, 51Orphanet, 24GTR, 27ICD10, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Branchiootic Syndrome:

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

Classifications:



External Ids:

Disease Ontology10 DOID:0060232
ICD1027 Q87.0
Orphanet51 52429
ICD10 via Orphanet28 Q87.0
UMLS65 C1865143

Summaries for Branchiootic Syndrome

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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 branchio-otic syndrome, is related to branchiootic syndrome 1 and bor-duane hydrocephalus contiguous gene syndrome, 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

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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:

 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

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

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Anatomical Context for Branchiootic Syndrome

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MalaCards organs/tissues related to Branchiootic Syndrome:

33
Skin

Animal Models for Branchiootic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootic Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053918.3EYA1, NEUROD1, SIX1, SIX5, SIX6
2MP:00053817.9EYA1, NEUROD1, OPRK1, SIX1, TRPS1
3MP:00053797.8EYA1, NEUROD1, OPRK1, SIX1, SIX5, SIX6

Publications for Branchiootic Syndrome

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Articles related to Branchiootic Syndrome:

idTitleAuthorsYear
1
Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation. (20627642)
2010
2
Clinicopathologic and prognostic significance of matrix metalloproteinases in rectal cancer. (16896992)
2007
3
A human homologue of the Drosophila polarity gene frizzled has been identified and mapped to 17q21.1. (7558010)
1995
4
Value of the study of various erythrocyte enzymes in determining the nature of cerebral stroke in the acute period]. (2175084)
1990

Variations for Branchiootic Syndrome

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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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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 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:007251310.5EYA1, SIX1
2anatomical structure developmentGO:004885610.5EYA1, SIX1
3neuron fate specificationGO:004866510.4EYA1, SIX1
4cochlea morphogenesisGO:009010310.3EYA1, SIX1
5pharyngeal system developmentGO:006003710.3EYA1, SIX1
6aorta morphogenesisGO:003590910.3EYA1, SIX1
7outflow tract morphogenesisGO:000315110.3EYA1, SIX1
8ureteric bud developmentGO:000165710.1EYA1, SIX1
9inner ear morphogenesisGO:004247210.1EYA1, SIX1
10inner ear developmentGO:00488399.9NEUROD1, SIX1
11sensory perception of soundGO:00076059.8EYA1, SIX1
12positive regulation of transcription, DNA-templatedGO:00458939.7EYA1, NEUROD1, SIX1
13cell fate commitmentGO:00451659.4EYA1, NEUROD1, TRPS1
14positive regulation of transcription from RNA polymerase II promoterGO:00459448.9EYA1, NEUROD1, RBCK1, SIX1

Sources for Branchiootic Syndrome

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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