MCID: BRN042
MIFTS: 36

Branchiootic Syndrome malady

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

Aliases & Classifications for Branchiootic Syndrome

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Sources:
11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 25GTR, 48Novoseek, 66UMLS, 28ICD10, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Branchiootic Syndrome:

Name: Branchiootic Syndrome 11 46 13
Branchiootic Dysplasia 11 46
Branchio-Otic Syndrome 52 25
Bo Syndrome 11 48
 
Branchiootic Syndrome 1 66
Bo Syndrome 1 46
Bos1 46
Bor 11

Classifications:



External Ids:

Disease Ontology11 DOID:0060232
ICD1028 Q87.0
Orphanet52 ORPHA52429
ICD10 via Orphanet29 Q87.0

Summaries for Branchiootic Syndrome

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Disease Ontology:11 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 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 phenotype vision/eye.

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:

 52 (show all 16)
  • facial asymmetry
  • micrognathia
  • abnormality of the outer ear
  • abnormality of the inner ear
  • preauricular skin tag
  • conductive hearing impairment
  • sensorineural hearing impairment
  • atresia of the external auditory canal
  • preauricular pit
  • morphological abnormality of the middle ear
  • branchial fistula
  • facial palsy
  • cleft palate
  • hearing impairment
  • abnormality of the nasolacrimal system
  • lip pit

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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Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome25

Anatomical Context for Branchiootic Syndrome

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MalaCards organs/tissues related to Branchiootic Syndrome:

34
Skin

Animal Models for Branchiootic Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Branchiootic Syndrome:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053917.9ERCC6, EYA1, SHARPIN, SIX1, SIX5, SIX6

Publications for Branchiootic Syndrome

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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

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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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Cellular components related to Branchiootic Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1LUBAC complexGO:00717979.6RBCK1, SHARPIN

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

(show all 23)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of secondary heart field cardioblast proliferationGO:007251310.5EYA1, SIX1
2pharyngeal system developmentGO:006003710.5EYA1, SIX1
3middle ear morphogenesisGO:004247410.5EYA1, SIX1
4anatomical structure developmentGO:004885610.5EYA1, SIX1
5aorta morphogenesisGO:003590910.4EYA1, SIX1
6otic vesicle developmentGO:007159910.4EYA1, SIX1
7cochlea morphogenesisGO:009010310.3EYA1, SIX1
8protein linear polyubiquitinationGO:009703910.3RBCK1, SHARPIN
9outflow tract morphogenesisGO:000315110.2EYA1, SIX1
10cell fate commitmentGO:004516510.2EYA1, TRPS1
11neuron fate specificationGO:004866510.2EYA1, SIX1
12ureteric bud developmentGO:000165710.2EYA1, SIX1
13branching involved in ureteric bud morphogenesisGO:000165810.2EYA1, SIX1
14I-kappaB kinase/NF-kappaB signalingGO:000724910.2RBCK1, SHARPIN
15pattern specification processGO:000738910.1EYA1, SIX1
16regulation of tumor necrosis factor-mediated signaling pathwayGO:001080310.1RBCK1, SHARPIN
17inner ear morphogenesisGO:004247210.1EYA1, SIX1
18regulation of protein localizationGO:00328809.9SIX1, TRIM17
19embryonic skeletal system morphogenesisGO:00487049.9EYA1, SIX1
20regulation of neuron differentiationGO:00456649.8EYA1, SIX1
21animal organ morphogenesisGO:00098879.6EYA1, SIX6, TRPS1
22transcription from RNA polymerase II promoterGO:00063668.5ERCC6, SIX1, SIX6, TRPS1
23positive regulation of transcription from RNA polymerase II promoterGO:00459448.2EYA1, RBCK1, SIX1, SIX5, SIX6, TRPS1

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

idNameGO IDScoreTop Affiliating Genes
1ubiquitin-protein transferase activityGO:00048429.1RBCK1, SHARPIN, TRIM17

Sources for Branchiootic Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet