MCID: BRN042
MIFTS: 39

Branchiootic Syndrome

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

Aliases & Classifications for Branchiootic Syndrome

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 branchiootorenal/branchiootic syndrome and branchiootic syndrome 1, and has symptoms including facial asymmetry, micrognathia and preauricular skin tag. 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.

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:

55 31 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 facial asymmetry 55 31 occasional (7.5%) Occasional (29-5%) HP:0000324
2 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
3 preauricular skin tag 55 31 occasional (7.5%) Occasional (29-5%) HP:0000384
4 conductive hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000405
5 sensorineural hearing impairment 55 31 frequent (33%) Frequent (79-30%) HP:0000407
6 atresia of the external auditory canal 55 31 frequent (33%) Frequent (79-30%) HP:0000413
7 preauricular pit 55 31 hallmark (90%) Very frequent (99-80%) HP:0004467
8 morphological abnormality of the middle ear 55 31 frequent (33%) Frequent (79-30%) HP:0008609
9 branchial fistula 55 31 frequent (33%) Frequent (79-30%) HP:0009795
10 facial palsy 55 31 occasional (7.5%) Occasional (29-5%) HP:0010628
11 cleft palate 55 31 occasional (7.5%) Occasional (29-5%) HP:0000175
12 lip pit 55 31 occasional (7.5%) Occasional (29-5%) HP:0100267
13 abnormality of the outer ear 55 Frequent (79-30%)
14 abnormality of the inner ear 55 Frequent (79-30%)
15 hearing impairment 55 Very frequent (99-80%)
16 abnormality of the nasolacrimal system 55 Occasional (29-5%)
17 abnormal morphology of the nasolacrimal system 31 occasional (7.5%) HP:0000614

Drugs & Therapeutics for Branchiootic Syndrome

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

(show all 25)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 1 52485-79-7 644073 40400
2
Hydrocortisone Approved, Vet_approved Phase 1 50-23-7 657311 5754
3
Morphine Approved, Investigational Phase 1 57-27-2 5288826
4
Naloxone Approved, Vet_approved Phase 1 465-65-6 5284596
5
Yohimbine Approved, Investigational, Vet_approved Phase 1 146-48-5 8969
6
Butyric Acid Experimental, Investigational 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:


# Name Status NCT ID Phase Drugs
1 Effects of Buprenorphine/Naloxone Dose on Experimental Stress Reactivity and Opioid Abstinence Recruiting NCT03015246 Phase 1 Buprenorphine-Naloxone;Morphine;Yohimbine;Hydrocortisone;Matching Placebo for Yohimbine;Matching Placebo for Hydrocortisone

Search NIH Clinical Center for Branchiootic Syndrome

Genetic Tests for Branchiootic Syndrome

Genetic tests related to Branchiootic Syndrome:

# Genetic test Affiliating Genes
1 Branchiootic Syndrome 28 EYA1

Anatomical Context for Branchiootic Syndrome

MalaCards organs/tissues related to Branchiootic Syndrome:

38
Skin

Publications for Branchiootic Syndrome

Articles related to Branchiootic Syndrome:

# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 EYA1 EYA1, 2-BP INS, 870GT insertion Pathogenic
2 EYA1 NM_000503.5(EYA1): c.1081C> T (p.Arg361Ter) single nucleotide variant Pathogenic rs121909202 GRCh37 Chromosome 8, 72156897: 72156897
3 EYA1 NM_000503.5(EYA1): c.1501_1507delACAACTA (p.Thr501Leufs) deletion Pathogenic rs606231356 GRCh38 Chromosome 8, 71215477: 71215483
4 EYA1 EYA1, 8-BP DEL, NT297 deletion Pathogenic

Expression for Branchiootic Syndrome

Search GEO for disease gene expression data for Branchiootic Syndrome.

Pathways for Branchiootic Syndrome

GO Terms for Branchiootic Syndrome

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 outflow tract morphogenesis GO:0003151 9.52 EYA1 SIX1
2 embryonic skeletal system morphogenesis GO:0048704 9.51 EYA1 SIX1
3 ureteric bud development GO:0001657 9.49 EYA1 SIX1
4 branching involved in ureteric bud morphogenesis GO:0001658 9.48 EYA1 SIX1
5 regulation of neuron differentiation GO:0045664 9.46 EYA1 SIX1
6 cochlea morphogenesis GO:0090103 9.43 EYA1 SIX1
7 middle ear morphogenesis GO:0042474 9.4 EYA1 SIX1
8 pharyngeal system development GO:0060037 9.37 EYA1 SIX1
9 neuron fate specification GO:0048665 9.32 EYA1 SIX1
10 anatomical structure development GO:0048856 9.26 EYA1 SIX1
11 aorta morphogenesis GO:0035909 9.16 EYA1 SIX1
12 otic vesicle development GO:0071599 8.96 EYA1 SIX1
13 positive regulation of secondary heart field cardioblast proliferation GO:0072513 8.62 EYA1 SIX1

Sources for Branchiootic Syndrome

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