BOR
MCID: BRN042
MIFTS: 39

Branchiootic Syndrome (BOR) malady

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

Aliases & Classifications for Branchiootic Syndrome

Aliases & Descriptions for Branchiootic Syndrome:

Name: Branchiootic Syndrome 12 50 56 29 14
Branchiootic Dysplasia 12 50
Bo Syndrome 12 52
Branchiootic Syndrome 1 69
Bo Syndrome 1 50
Bos1 50
Bor 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0060232
ICD10 33 Q87.0
Orphanet 56 ORPHA52429
ICD10 via Orphanet 34 Q87.0

Summaries for Branchiootic Syndrome

Disease Ontology : 12 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 facial palsy, sensorineural hearing impairment and cleft palate. An important gene associated with Branchiootic Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Buprenorphine and Hydrocortisone have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotype is vision/eye.

Related Diseases for Branchiootic Syndrome

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



Diseases related to Branchiootic Syndrome

Symptoms & Phenotypes for Branchiootic Syndrome

Human phenotypes related to Branchiootic Syndrome:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial palsy 56 32 Occasional (29-5%) HP:0010628
2 sensorineural hearing impairment 56 32 Frequent (79-30%) HP:0000407
3 cleft palate 56 32 Occasional (29-5%) HP:0000175
4 micrognathia 56 32 Occasional (29-5%) HP:0000347
5 conductive hearing impairment 56 32 Frequent (79-30%) HP:0000405
6 preauricular skin tag 56 32 Occasional (29-5%) HP:0000384
7 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
8 atresia of the external auditory canal 56 32 Frequent (79-30%) HP:0000413
9 preauricular pit 56 32 Very frequent (99-80%) HP:0004467
10 branchial fistula 56 32 Frequent (79-30%) HP:0009795
11 abnormality of the nasolacrimal system 56 32 Occasional (29-5%) HP:0000614
12 lip pit 56 32 Occasional (29-5%) HP:0100267
13 morphological abnormality of the middle ear 56 32 Frequent (79-30%) HP:0008609
14 hearing impairment 56 Very frequent (99-80%)
15 abnormality of the inner ear 56 Frequent (79-30%)
16 abnormality of the outer ear 56 Frequent (79-30%)

MGI Mouse Phenotypes related to Branchiootic Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.1 ERCC6 EYA1 SHARPIN SIX1 SIX5 SIX6

Drugs & Therapeutics for Branchiootic Syndrome

Drugs for Branchiootic Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 40400 644073
2
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 5754 657311
3
Morphine Approved, Investigational Phase 1 57-27-2 5288826
4
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
5
Yohimbine Approved, Vet_approved Phase 1 146-48-5 8969
6
Butyric Acid Experimental Phase 1 107-92-6 264
7 Adrenergic Agents Phase 1
8 Adrenergic alpha-Antagonists Phase 1
9 Adrenergic Antagonists Phase 1
10 Analgesics Phase 1
11 Analgesics, Opioid Phase 1
12 Anti-Inflammatory Agents Phase 1
13 Autonomic Agents Phase 1
14 Buprenorphine, Naloxone Drug Combination Phase 1
15 Central Nervous System Depressants Phase 1
16 Cortisol succinate Phase 1
17 Hydrocortisone 17-butyrate 21-propionate Phase 1
18 Hydrocortisone acetate Phase 1
19 Hydrocortisone-17-butyrate Phase 1
20 Mydriatics Phase 1
21 Narcotic Antagonists Phase 1
22 Narcotics Phase 1
23 Neurotransmitter Agents Phase 1
24 Peripheral Nervous System Agents Phase 1
25 Yohimbe Nutraceutical Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of Buprenorphine/Naloxone Dose on Experimental Stress Reactivity and Opioid Abstinence Recruiting NCT03015246 Phase 1

Search NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

Genetic tests related to Branchiootic Syndrome:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome 29

Anatomical Context for Branchiootic Syndrome

MalaCards organs/tissues related to Branchiootic Syndrome:

39
Skin

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

id Title Authors Year
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

ClinVar genetic disease variations for Branchiootic Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 NM_172060.3(EYA1): c.1402_1408delACAACTA (p.Thr468Leufs) deletion Pathogenic rs606231356 GRCh37 Chromosome 8, 72127712: 72127718
2 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
3 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic
4 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897

Expression for Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for Branchiootic Syndrome

GO Terms for Branchiootic Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 LUBAC complex GO:0071797 8.62 RBCK1 SHARPIN

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

(show all 19)
id Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.58 EYA1 SIX1
2 I-kappaB kinase/NF-kappaB signaling GO:0007249 9.58 RBCK1 SHARPIN
3 pattern specification process GO:0007389 9.57 EYA1 SIX1
4 embryonic skeletal system morphogenesis GO:0048704 9.56 EYA1 SIX1
5 regulation of protein localization GO:0032880 9.55 SIX1 TRIM17
6 outflow tract morphogenesis GO:0003151 9.54 EYA1 SIX1
7 ureteric bud development GO:0001657 9.52 EYA1 SIX1
8 branching involved in ureteric bud morphogenesis GO:0001658 9.51 EYA1 SIX1
9 regulation of tumor necrosis factor-mediated signaling pathway GO:0010803 9.49 RBCK1 SHARPIN
10 regulation of neuron differentiation GO:0045664 9.48 EYA1 SIX1
11 cochlea morphogenesis GO:0090103 9.46 EYA1 SIX1
12 middle ear morphogenesis GO:0042474 9.43 EYA1 SIX1
13 pharyngeal system development GO:0060037 9.4 EYA1 SIX1
14 neuron fate specification GO:0048665 9.37 EYA1 SIX1
15 anatomical structure development GO:0048856 9.32 EYA1 SIX1
16 aorta morphogenesis GO:0035909 9.26 EYA1 SIX1
17 otic vesicle development GO:0071599 9.16 EYA1 SIX1
18 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.96 EYA1 SIX1
19 protein linear polyubiquitination GO:0097039 8.62 RBCK1 SHARPIN

Sources for Branchiootic Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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