BOS1
MCID: BRN108
MIFTS: 63

Branchiootic Syndrome 1 (BOS1)

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

Aliases & Classifications for Branchiootic Syndrome 1

MalaCards integrated aliases for Branchiootic Syndrome 1:

Name: Branchiootic Syndrome 1 57 72 29 13 6 70
Anterior Segment Anomalies with or Without Cataract 57 72 29
Deafness 44 39 17
Bo Syndrome 1 57 72
Bos1 57 72
Branchiootic Syndrome, Type 1 39
Branchio-Otic Dysplasia 1 72
Branchio-Otic Syndrome 1 72
Branchiootic Dysplasia 57
Asa 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
variable expressivity
incomplete penetrance
onset of hearing loss ranges from childhood to young adulthood
genetic heterogeneity, see bos2 and bos3
allelic disorder to branchiootorenal syndrome (bor, ) and otofaciocervical syndrome

Inheritance:
autosomal dominant


HPO:

31
branchiootic syndrome 1:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity incomplete penetrance


Classifications:



External Ids:

OMIM® 57 602588
UMLS 70 C1865143

Summaries for Branchiootic Syndrome 1

UniProtKB/Swiss-Prot : 72 Anterior segment anomalies with or without cataract: A disease characterized by various types of developmental eye anomalies, in the absence of other abnormalities. The phenotypic spectrum of anterior segment anomalies include central corneal opacity, Peters anomaly, and bilateral persistence of the pupillary membrane. Some patients have cataract.
Branchiootic syndrome 1: A syndrome characterized by usually bilateral branchial cleft fistulas or cysts, sensorineural and/or conductive hearing loss, pre-auricular pits, and structural defects of the outer, middle or inner ear. Otic defects include malformed and hypoplastic pinnae, a narrowed external ear canal, bulbous internal auditory canal, stapes fixation, malformed and hypoplastic cochlea. Branchial and otic anomalies overlap with those seen in individuals with the branchiootorenal syndrome. However renal anomalies are absent in branchiootic syndrome patients.

MalaCards based summary : Branchiootic Syndrome 1, also known as anterior segment anomalies with or without cataract, is related to deafness, x-linked 2 and deafness, autosomal recessive 6. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Risedronate and Citalopram have been mentioned in the context of this disorder. Affiliated tissues include bone, brain and cortex, and related phenotypes are microtia and sensorineural hearing impairment

OMIM® : 57 Individuals with the BO syndrome are affected by the same branchial and otic anomalies as those seen in individuals with the branchiootorenal syndrome (see BOR1, 113650), but lack renal anomalies (Vincent et al., 1997). Although Melnick et al. (1978) maintained that the BO syndrome is distinct from the BOR syndrome because of the lack of renal anomalies and variable presence of deafness in the former, Cremers and Fikkers-van Noord (1980) suggested that the 2 syndromes represent a single entity. See 113600 for a discussion of branchial cleft anomalies, which may be related. (602588) (Updated 20-May-2021)

Related Diseases for Branchiootic Syndrome 1

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2054)
# Related Disease Score Top Affiliating Genes
1 deafness, x-linked 2 32.8 SLC26A4 GJB2 EYA1
2 deafness, autosomal recessive 6 32.7 PJVK CDH23
3 deafness, autosomal recessive 3 32.6 MYO7A GJB2
4 deafness, autosomal recessive 84a 32.6 PTPRQ CDH23
5 deafness, autosomal recessive 18a 32.6 MYO7A CDH23
6 deafness, autosomal recessive 91 32.5 GJB2 CDH23
7 deafness, autosomal recessive 8 32.5 PJVK OTOF LOXHD1 GJB2
8 deafness, autosomal dominant 11 32.5 MYO7A GJB2 CDH23
9 deafness, autosomal recessive 79 32.5 GPSM2 GJB2
10 deafness, autosomal dominant 6 32.5 SLC26A4 MYO7A GJB2 CDH23
11 deafness, autosomal recessive 29 32.5 MARVELD2 ILDR1 GJB2
12 deafness, autosomal recessive 93 32.4 PJVK OTOF GJB2
13 deafness, autosomal recessive 25 32.4 PJVK GRXCR1
14 deafness, autosomal dominant 56 32.4 SLC26A4 GJB2
15 deafness, autosomal recessive 53 32.4 PJVK OTOG
16 deafness, autosomal dominant 41 32.4 SLC26A4 GJB2 CDH23
17 deafness, autosomal recessive 55 32.4 GRXCR1 CDH23
18 deafness, autosomal recessive 39 32.4 PTPRQ LOXHD1 GJB2
19 deafness, autosomal recessive 15 32.4 PJVK ILDR1
20 deafness, autosomal dominant 67 32.4 OTOF GJB2
21 deafness, autosomal recessive 35 32.4 PJVK GRXCR1 CDH23
22 deafness, autosomal recessive 28 32.4 OTOF GRXCR1
23 deafness, autosomal recessive 67 32.4 PJVK ILDR1
24 deafness, autosomal dominant 1, with or without thrombocytopenia 32.4 PTPRQ MYO7A GJB2
25 deafness, autosomal recessive 40 32.4 GRXCR1 CDH23
26 deafness, autosomal recessive 59 32.4 PJVK OTOF
27 deafness, autosomal recessive 21 32.4 PJVK OTOG GJB2
28 deafness, autosomal dominant 20 32.4 SLC26A4 CDH23
29 deafness, autosomal dominant 25 32.3 OTOF MYO7A
30 autosomal recessive nonsyndromic deafness 32 32.3 PJVK GPSM2
31 deafness, autosomal recessive 22 32.3 PTPRQ PJVK
32 deafness, autosomal recessive 37 32.3 PTPRQ MYO7A
33 deafness, autosomal dominant 36 32.3 SLC26A4 OTOF GJB2 CDH23
34 deafness, autosomal recessive 49 32.3 PJVK MARVELD2 ILDR1 GJB2
35 deafness, autosomal recessive 23 32.3 PTPRQ MYO7A GJB2 CDH23
36 bartter syndrome, type 4b, neonatal, with sensorineural deafness 32.3 LOC106501712 CLCNKA
37 deafness, autosomal dominant 9 32.3 SLC26A4 MYO7A GJB2
38 deafness, autosomal recessive 61 32.3 SLC26A4 PTPRQ OTOF
39 deafness, autosomal recessive 13 32.3 PJVK GRXCR1
40 deafness, autosomal recessive 42 32.2 PTPRQ PJVK MARVELD2 ILDR1
41 deafness, autosomal dominant 22 32.2 PTPRQ MYO7A
42 deafness, autosomal recessive 1a 32.2 SLC26A4 PJVK OTOF MYO7A GJB2
43 deafness, autosomal recessive 24 32.2 PJVK ILDR1
44 x-linked nonsyndromic deafness 32.2 SLC26A4 OTOF GJB2 EYA1
45 deafness, autosomal recessive 85 32.1 PJVK OTOF GPSM2
46 deafness, autosomal recessive 16 32.1 PTPRQ OTOG OTOF GJB2 CDH23
47 deafness, autosomal recessive 77 32.1 SLC26A4 PJVK LOXHD1 GJB2 CDH23
48 dfnb1 32.1 OTOF MYO7A GJB2
49 branchiootic syndrome 32.0 SLC26A4 SIX1 MYO7A EYA1
50 deafness, autosomal recessive 2 32.0 SLC26A4 PJVK OTOF MYO7A GJB2 CDH23

Graphical network of the top 20 diseases related to Branchiootic Syndrome 1:



Diseases related to Branchiootic Syndrome 1

Symptoms & Phenotypes for Branchiootic Syndrome 1

Human phenotypes related to Branchiootic Syndrome 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 microtia 31 HP:0008551
2 sensorineural hearing impairment 31 HP:0000407
3 retrognathia 31 HP:0000278
4 low-set ears 31 HP:0000369
5 hypoplasia of the cochlea 31 HP:0008586
6 preauricular pit 31 HP:0004467
7 branchial fistula 31 HP:0009795
8 cupped ear 31 HP:0000378
9 mixed hearing impairment 31 HP:0000410
10 dilatated internal auditory canal 31 HP:0004458
11 cochlear malformation 31 HP:0008554

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
microtia
low-set ears
cochlear malformation
conductive hearing loss
preauricular pits
more
Head And Neck Neck:
branchial cleft fistulas or cysts, usually bilateral

Head And Neck Face:
retrognathia

Clinical features from OMIM®:

602588 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Branchiootic Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.16 CDH23 CLCNKA EPS8 EYA1 GPSM2 GRXCR1
2 hearing/vestibular/ear MP:0005377 9.86 CDH23 CLCNKA EPS8 EYA1 GJB2 GPSM2
3 digestive/alimentary MP:0005381 9.7 CDH23 CLCNKA EYA1 ILDR1 MARVELD2 SIX1
4 nervous system MP:0003631 9.53 CDH23 EPS8 EYA1 GJB2 GPSM2 GRXCR1

Drugs & Therapeutics for Branchiootic Syndrome 1

Drugs for Branchiootic Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 129)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
2
Citalopram Approved Phase 4 59729-33-8 2771
3
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
6
Dexetimide Withdrawn Phase 4 21888-98-2
7 Neurotransmitter Agents Phase 4
8 Analgesics Phase 4
9 Ginkgo Phase 4
10 Diphosphonates Phase 4
11 Psychotropic Drugs Phase 4
12 Serotonin Uptake Inhibitors Phase 4
13 Antidepressive Agents Phase 4
14 Dopamine Agents Phase 4
15 Duloxetine Hydrochloride Phase 4
16 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
17 Antimetabolites Phase 4
18 Anticholesteremic Agents Phase 4
19 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
20 Hypolipidemic Agents Phase 4
21 Lipid Regulating Agents Phase 4
22 BB 1101 Phase 4
23
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
24
Dexlansoprazole Approved, Investigational Phase 2, Phase 3 138530-94-6, 103577-45-3 9578005
25
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883
26
Amikacin Approved, Investigational, Vet_approved Phase 2, Phase 3 37517-28-5 37768
27
Vancomycin Approved Phase 2, Phase 3 1404-90-6 441141 14969
28
Valganciclovir Approved, Investigational Phase 2, Phase 3 175865-60-8 64147
29 Orange Approved Phase 3
30
Sorbitol Approved Phase 3 50-70-4 5780
31
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
32 Antacids Phase 2, Phase 3
33 Anti-Ulcer Agents Phase 2, Phase 3
34 Proton Pump Inhibitors Phase 2, Phase 3
35 Antibiotics, Antitubercular Phase 2, Phase 3
36 Pharmaceutical Solutions Phase 3
37 Anti-Infective Agents Phase 3
38 Antiviral Agents Phase 3
39 Anesthetics Phase 3
40
Ciprofloxacin Approved, Investigational Phase 1, Phase 2 85721-33-1 2764
41
Ancrod Approved, Investigational Phase 1, Phase 2 9046-56-4
42
Iron Approved Phase 2 7439-89-6 23925 29936
43
Magnesium citrate Approved Phase 2 3344-18-1
44
Sodium citrate Approved, Investigational Phase 2 68-04-2
45
Silicon Approved, Investigational Phase 2 7440-21-3 4082203
46
Peppermint Approved Phase 2
47
Tocopherol Approved, Investigational Phase 2 1406-66-2
48
Paroxetine Approved, Investigational Phase 2 61869-08-7 43815
49
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
50
Mannitol Approved, Investigational Phase 2 69-65-8 453 6251

Interventional clinical trials:

(show top 50) (show all 456)
# Name Status NCT ID Phase Drugs
1 The Evaluation of the Effectiveness of Bone-anchored Hearing Aids (Baha) in Patients With Conductive or Mixed Hearing Loss, or Unilateral Deafness Unknown status NCT01264510 Phase 4
2 Evaluation of Benefit for Treatment of Single Sided Deafness (SSD) Between Two Bone Conduction Prosthetic Devices; Osseointegrated Implant Versus Maxilla Anchored Removable Oral Appliance ("SoundBite") Unknown status NCT01933386 Phase 4
3 Development of Auditory Skills in Young Deaf Children With Bilateral Cochlear Implants Unknown status NCT00424307 Phase 4
4 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
5 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
6 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
7 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
8 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Recruiting NCT04226456 Phase 4 N-acetyl cysteine
9 The Effect of Positive Airway Pressure on Idiopathic Sudden Sensorineural Hearing Loss Comorbided With Obstructive Sleep Apnea: A Clinical Randomized Controlled Study Recruiting NCT04192656 Phase 4 Methylprednisolone Hemisuccinate;Ginaton
10 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
11 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Recruiting NCT03321006 Phase 4 Duloxetine or escitalopram
12 Towards a Self-Administered Hearing Protection Regimen Not yet recruiting NCT04826237 Phase 4 Statin;methylprednisolone;dexamethasone;Placebo
13 Applying Proton Pump Inhibitor to Prevent and Treat Acute Fluctuating Hearing Loss in Patients With SLC26A4 Mutation Unknown status NCT00789061 Phase 2, Phase 3 Proton pump inhibitor
14 The Leiden CONCERT Study 2.0 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Non-Randomized Trial With Historical Control Group Unknown status NCT02005822 Phase 3 Valganciclovir
15 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
16 Assessment of an Innovative Visual Analogue Scale of Pain (Pictorial VAS) Versus the Usual VAS (VAS) Among Deaf People Completed NCT01423409 Phase 2, Phase 3
17 A Prospective, Randomized, Double Blind, Placebo Controlled, Multicenter Study on the Safety and Efficacy of Continuous Infusion of Corticosteroid Delivered Via Catheter in Patients With Idiopathic Sudden Sensorineural Hearing Loss Completed NCT00335920 Phase 3 Dexamethasone-dihydrogenphosphate (4mg/ml)
18 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
19 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
20 Efficacy and Safety of AM-111 in the Treatment of Acute Inner Ear Hearing Loss Completed NCT02561091 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
21 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
22 A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss Completed NCT03331627 Phase 3 STR001-IT and STR001-ER
23 A Two-part, Randomized, Double-blind, Placebo-controlled, Parallel-group, Efficacy and Safety Study of SENS-401 in Subjects With Severe or Profound Sudden Sensorineural Hearing Loss Recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
24 Evaluation of the Benefit of Antiviral Treatment With Valganciclovir on Congenital CMV Infection-related Deafness on Hearing and Balance Terminated NCT02606266 Phase 2, Phase 3 Valganciclovir
25 Efficacy and Safety of AM-111 as Acute Sudden Sensorineural Hearing Loss Treatment Terminated NCT02809118 Phase 3 AM-111 0.4 mg/ml;AM-111 0.8 mg/ml
26 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
27 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
28 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
29 Safety and Efficacy Study of SPI-1005 for Prevention of Chemotherapy Induced Hearing Loss Unknown status NCT01451853 Phase 2 SPI-1005 Low Dose;SPI-1005 Middle Dose;SPI-1005 High Dose;Placebo
30 Transtympanic Administration of Lactate: An Innovative Otoprotection for Patients Receiving Cisplatin or Carboplatin Chemotherapy Unknown status NCT01108601 Phase 1, Phase 2 Ringer's Lactate (0.03% Ciprofloxacin)
31 Effectiveness of NECTEC Model, Body-worn, Digital Hearing Aids and Cost of Screening and Hearing Aids Service in Elders Unknown status NCT01902914 Phase 1, Phase 2
32 Phase II Study of the Multichannel Auditory Brain Stem Implant for Deafness Following Surgery for Neurofibromatosis 2 Completed NCT00004437 Phase 2
33 Effectiveness of Therapy Via Telemedicine Following Cochlear Implants Completed NCT02497690 Phase 2
34 Antioxidation Medication for Noise-induced Hearing Loss Completed NCT00552786 Phase 2 N-acetylcysteine (NAC);glucose
35 Double-blind, Randomized, Placebo-controlled Study on Efficacy, Safety and Tolerability of Ancrod in Patients With Sudden Sensorineural Hearing Loss (SSHL) Completed NCT01621256 Phase 1, Phase 2 Ancrod;Saline solution
36 Efficacy of AM-111 in Patients With Acute Sensorineural Hearing Loss: A Multi-Centre, Double-Blind, Randomised, Placebo-Controlled, Dose-Escalation Phase II Study Completed NCT00802425 Phase 2 AM-111;placebo
37 A Phase I/II Open-label Study of the Effects of Anakinra in Corticosteroid-resistant Subjects With Autoimmune Inner Ear Disease Completed NCT01267994 Phase 1, Phase 2 Anakinra
38 Micronutrient Intervention to Reduce Noise-Induced Hearing Loss: Prevention of Temporary Threshold Changes Induced by Use of a Digital Music Player Completed NCT00808470 Phase 2 beta-carotene, vitamins C and E, magnesium
39 A Phase II Randomized and Controlled Investigation of Six Weeks of Oral Valganciclovir Therapy in Infants and Children With Congenital Cytomegalovirus Infection and Hearing Loss Completed NCT01649869 Phase 2 Valganciclovir
40 A Phase 1/2 Randomized, Double-blind, Placebo-controlled, Single-dose Study of FX-322 Administered by Intratympanic Injection in Adults With Stable Sensorineural Hearing Loss Completed NCT03616223 Phase 1, Phase 2 FX-322;Placebo
41 A Pilot Double Blind Placebo Controlled Crossover Study to Explore Possible Benefits of AUT00063, An Oral Modulator of Voltage - Gated Potassium Channels , In Adults Post-lingual Unilateral Cochlear Implant Recipients Completed NCT02832128 Phase 2 AUT00063;Placebo
42 A Phase 2A Randomized, Placebo Controlled, Double Blind Study of the Protective Effects of EPI-743 (VincerinoneTM) on Noise-Induced Hearing Loss Completed NCT02257983 Phase 2 EPI-743;Placebo
43 A Balanced, Randomized, Placebo-Controlled, Double-Blind Study of the Efficacy and Safety of AUT00063 Versus Placebo in Age-Related Hearing Loss [CLARITY-1 Study] Completed NCT02345031 Phase 2 AUT00063;Placebo
44 Randomised, Double-blind, Placebo Controlled, Cross-over Study Comparing the Effects of Both Single Dose and Repeated Dosing Treatment for 14 Days of Vestipitant or Vestipitant / Paroxetine Combination in an Enriched Population of Subjects With Tinnitus & Hearing Loss Completed NCT00394056 Phase 2 Vestipitant;Vestipitant + Paroxetine
45 A Three-part, Multicenter, Open Label, Single Dose Study to Assess the Safety, Tolerability, and Efficacy of Intra Labyrinthine (IL) CGF166 in Patients With Severe-to-profound Hearing Loss Completed NCT02132130 Phase 1, Phase 2 CGF166
46 Functioning, Disability, and Quality of Life in the Adult Hearing Impaired Completed NCT00037986 Phase 2
47 Safety of Autologous Stem Cell Infusion for Children With Acquired Hearing Loss Completed NCT02038972 Phase 1, Phase 2
48 Clinical Trial of the "Living Well With Hearing Loss Workshop" Completed NCT00323427 Phase 2
49 Measurement and Prediction of Outcomes of Amplification Completed NCT00013416 Phase 2
50 Intratympanic N-Acetylcysteine (NAC) Injections for Prevention of Cisplatin-induced Ototoxicity in Head and Neck Cancer Patients: A Multi-centre Phase II Randomized Controlled Trial. Recruiting NCT04291209 Phase 1, Phase 2 N-Acetyl Cysteine

Search NIH Clinical Center for Branchiootic Syndrome 1

Cochrane evidence based reviews: deafness

Genetic Tests for Branchiootic Syndrome 1

Genetic tests related to Branchiootic Syndrome 1:

# Genetic test Affiliating Genes
1 Branchiootic Syndrome 1 29 EYA1
2 Anterior Segment Anomalies with or Without Cataract 29

Anatomical Context for Branchiootic Syndrome 1

MalaCards organs/tissues related to Branchiootic Syndrome 1:

40
Bone, Brain, Cortex, Skin, Eye, Kidney, Heart

Publications for Branchiootic Syndrome 1

Articles related to Branchiootic Syndrome 1:

(show top 50) (show all 20848)
# Title Authors PMID Year
1
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 6 57
16691597 2006
2
BOR and BO syndromes are allelic defects of EYA1. 6 57
9359046 1997
3
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3). 57 61
9788564 1998
4
Otological aspects of the earpit-deafness syndrome. 61 57
6973119 1981
5
The earpits-deafness syndrome. Clinical and genetic aspects. 57 61
6964893 1980
6
Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness. 61 57
14006981 1962
7
Hereditary deafness in family with ear-pits (fistula auris congenita). 61 57
13269867 1955
8
Stickler and branchio-oto-renal syndromes in a patient with mutations in EYA1 and COL2A1 genes. 6
18177466 2008
9
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. 57
17357085 2007
10
EYA1 mutation in a newborn female presenting with cardiofacial syndrome. 6
15493068 2004
11
Mutations of a human homologue of the Drosophila eyes absent gene (EYA1) detected in patients with congenital cataracts and ocular anterior segment anomalies. 57
10655545 2000
12
Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome. 57
8786145 1996
13
Detection of a megabase deletion in a patient with branchio-oto-renal syndrome (BOR) and tricho-rhino-phalangeal syndrome (TRPS): implications for mapping and cloning the BOR gene. 57
8824802 1996
14
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. 57
2773990 1989
15
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. 57
657583 1978
16
The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. 57
1083706 1976
17
Familial hearing loss associated with branchial fistulas. 57
5365063 1969
18
Connexin hemichannel inhibitors with a focus on aminoglycosides. 61
33711451 2021
19
Identification of novel compound heterozygous variants in SLC19A2 and the genotype-phenotype associations in thiamine-responsive megaloblastic anemia. 61
33571483 2021
20
Behavioral characterization of a novel Cisd2 mutant mouse. 61
33610659 2021
21
Did the three little pigs frighten the wolf? How deaf readers use lexical and syntactic cues to comprehend sentences. 61
33677384 2021
22
Chronic kidney disease caused by maternally inherited diabetes and deafness: a case report. 61
33125665 2021
23
Subcortical deafness as a subtype of auditory agnosia after injury of bilateral auditory radiations caused by two cerebrovascular accidents - normal auditory brainstem responses with I-VII waves and abolished consciousness of hearing. 61
33573440 2021
24
Ruptured Vertebral Aneurysm With Progressive Deafness and Bruns Nystagmus. 61
33534385 2021
25
Lessons from a 30 year follow-up of monozygotic twins with discordant phenotype due to a ring 13 chromosomal mosaicism in one of them. 61
33438813 2021
26
Prevalence of hearing loss in school aged Nepalese children. 61
33636508 2021
27
Smith-Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort. 61
33368193 2021
28
[Periodontal rehabilitation in a deaf patient with symptomatic epilepsy in Sturge-Weber syndrome - a case report]. 61
33789417 2021
29
The Effect of Visual Perceptual Load on Auditory Awareness of Social vs. Non-social Stimuli in Individuals with Autism. 61
32613484 2021
30
Identification of homozygous mutations for hearing loss. 61
33524517 2021
31
The Sensitivity of the Electrically Stimulated Auditory Nerve to Amplitude Modulation Cues Declines With Advanced Age. 61
33795616 2021
32
Deaf and hard of hearing awareness training: A mentor-led workshop. 61
33210421 2021
33
Stem Cells and Gene Therapy in Progressive Hearing Loss: the State of the Art. 61
33507440 2021
34
Prevalence and risk factors for cisplatin-induced hearing loss in children, adolescents, and young adults: a multi-institutional North American cohort study. 61
33581749 2021
35
Cochlear Implantation in the Active Duty Military Population: A Survey Assessing Military Readiness and Satisfaction. 61
33351567 2021
36
First results of electrode reimplantation and its hypothetical dependence from artificial brain maturation. 61
32562027 2021
37
Cochlear Implantation in Sporadic Vestibular Schwannoma and Other Retrocochlear Pathology: A Case Series. 61
33351558 2021
38
Adding evidence to the role of NEUROG1 in congenital cranial dysinnervation disorders. 61
33439489 2021
39
An acoustic and auditory analysis of vocants in infants with cochlear implants. 61
32037936 2021
40
[Hearing rehabilitation using a cochlear implant - a way of reducing tinnitus in the elderly]. 61
32575139 2021
41
Post-lingual deaf adult cochlear implant users' speech and voice characteristics: cochlear implant turned-on versus turned-off. 61
33461389 2021
42
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness. 61
33811157 2021
43
Rbm24 regulates inner-ear-specific alternative splicing and is essential for maintaining auditory and motor coordination. 61
32887533 2021
44
[Progress in genetic susceptibility to aminoglycoside-induced deafness]. 61
33794642 2021
45
White matter alteration in adults with prelingual deafness: A TBSS and SBM analysis of fractional anisotropy data. 61
33388552 2021
46
Evolving clinical manifestations of mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome: From infancy to adulthood in a 31-year-old woman. 61
33369179 2021
47
Butylphthalide enhances recovery from sudden deafness. 61
33422947 2021
48
In Response to In Reference to A modern Case Sheds Light on a Classical Enigma: Beethoven's Deafness. 61
33645735 2021
49
Single-sided deafness: Bone conduction devices or cochlear implantation? A systematic review with meta-analysis. 61
33160618 2021
50
Crystallographic Modeling of the PNPT1:c.1453A>G Variant as a Cause of Mitochondrial Dysfunction and Autosomal Recessive Deafness; Expanding the Neuroimaging and Clinical Features. 61
33812062 2021

Variations for Branchiootic Syndrome 1

ClinVar genetic disease variations for Branchiootic Syndrome 1:

6 (show top 50) (show all 150)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 LOXHD1 NM_144612.6(LOXHD1):c.746G>A (p.Trp249Ter) SNV Pathogenic 448957 rs1248889536 GRCh37: 18:44190752-44190752
GRCh38: 18:46610789-46610789
2 KARS1 NM_005548.2(KARS1):c.1513C>T (p.Pro505Ser) SNV Pathogenic 437930 rs1555512658 GRCh37: 16:75663351-75663351
GRCh38: 16:75629453-75629453
3 EYA1 EYA1, 2-BP INS, 870GT Insertion Pathogenic 7931 GRCh37:
GRCh38:
4 EYA1 EYA1, 8-BP DEL, NT297 Deletion Pathogenic 7932 GRCh37:
GRCh38:
5 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter) SNV Pathogenic 7943 rs121909202 GRCh37: 8:72156897-72156897
GRCh38: 8:71244662-71244662
6 EYA1 NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs) Deletion Pathogenic 7944 rs606231356 GRCh37: 8:72127712-72127718
GRCh38: 8:71215477-71215483
7 CDH23 NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs) Insertion Pathogenic 560885 rs1564805114 GRCh37: 10:73567315-73567316
GRCh38: 10:71807558-71807559
8 CDH23 NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro) SNV Pathogenic 560886 rs762118583 GRCh37: 10:73551041-73551041
GRCh38: 10:71791284-71791284
9 LOC106501712 , CLCNKA NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val) SNV Pathogenic 560887 rs1557458426 GRCh37: 1:16359720-16359720
GRCh38: 1:16033225-16033225
10 EPS8 NM_004447.6(EPS8):c.205-8A>G SNV Pathogenic 560888 rs180899529 GRCh37: 12:15822767-15822767
GRCh38: 12:15669833-15669833
11 GJB2 NM_004004.6(GJB2):c.355G>T (p.Glu119Ter) SNV Pathogenic 560889 rs150529554 GRCh37: 13:20763366-20763366
GRCh38: 13:20189227-20189227
12 GPSM2 NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu) SNV Pathogenic 560890 rs755804651 GRCh37: 1:109439567-109439567
GRCh38: 1:108896945-108896945
13 GRXCR1 NM_001080476.2(GRXCR1):c.655G>A (p.Glu219Lys) SNV Pathogenic 560891 rs1560690591 GRCh37: 4:43022398-43022398
GRCh38: 4:43020381-43020381
14 ILDR1 NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs) Deletion Pathogenic 560892 rs1559870857 GRCh37: 3:121712434-121712435
GRCh38: 3:121993587-121993588
15 MARVELD2 NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs) Duplication Pathogenic 560893 rs1561299289 GRCh37: 5:68728393-68728394
GRCh38: 5:69432566-69432567
16 MYO7A NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg) SNV Pathogenic 560894 rs746667217 GRCh37: 11:76916548-76916548
GRCh38: 11:77205503-77205503
17 MYO7A NM_000260.4(MYO7A):c.5326+3A>G SNV Pathogenic 560895 rs1565469959 GRCh37: 11:76914265-76914265
GRCh38: 11:77203220-77203220
18 MYO7A NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser) SNV Pathogenic 560896 rs781790246 GRCh37: 11:76858958-76858958
GRCh38: 11:77147912-77147912
19 MYO7A NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile) SNV Pathogenic 560897 rs192378817 GRCh37: 11:76894191-76894191
GRCh38: 11:77183146-77183146
20 MYO7A NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala) SNV Pathogenic 560898 rs751242455 GRCh37: 11:76915139-76915139
GRCh38: 11:77204094-77204094
21 MYO7A NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro) SNV Pathogenic 560899 rs1565430886 GRCh37: 11:76900475-76900475
GRCh38: 11:77189430-77189430
22 MYO7A NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly) SNV Pathogenic 517448 rs757460257 GRCh37: 11:76909603-76909603
GRCh38: 11:77198558-77198558
23 OTOF NM_194248.3(OTOF):c.3376dup (p.Ile1126fs) Duplication Pathogenic 560900 rs1558480402 GRCh37: 2:26696890-26696891
GRCh38: 2:26474022-26474023
24 OTOF NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro) SNV Pathogenic 560901 rs1558490542 GRCh37: 2:26705303-26705303
GRCh38: 2:26482435-26482435
25 OTOG NM_001277269.1(OTOG):c.7235del (p.Cys2412fs) Deletion Pathogenic 560902 rs1565127413 GRCh37: 11:17655353-17655353
GRCh38: 11:17633806-17633806
26 PJVK NM_001042702.4(PJVK):c.158C>G (p.Ser53Ter) SNV Pathogenic 560903 rs538027448 GRCh37: 2:179318294-179318294
GRCh38: 2:178453567-178453567
27 PJVK NM_001042702.4(PJVK):c.162_172del (p.Pro55fs) Deletion Pathogenic 560904 rs1559366084 GRCh37: 2:179318296-179318306
GRCh38: 2:178453569-178453579
28 PJVK NM_001042702.4(PJVK):c.406C>T (p.Arg136Ter) SNV Pathogenic 560905 rs367688416 GRCh37: 2:179319253-179319253
GRCh38: 2:178454526-178454526
29 PTPRQ NM_001145026.2(PTPRQ):c.6739-1G>A SNV Pathogenic 560906 rs1565855932 GRCh37: 12:81072380-81072380
GRCh38: 12:80678601-80678601
30 PTPRQ NM_001145026.2(PTPRQ):c.5156_5157AT[1] (p.Ile1720fs) Microsatellite Pathogenic 560907 rs1565819402 GRCh37: 12:81007608-81007609
GRCh38: 12:80613829-80613830
31 SLC26A4 NM_000441.2(SLC26A4):c.1264-3C>G SNV Pathogenic 560908 rs1562835391 GRCh37: 7:107334845-107334845
GRCh38: 7:107694400-107694400
32 SLC26A4-AS1 , SLC26A4 NM_000441.2(SLC26A4):c.42del (p.Glu15fs) Deletion Pathogenic 560909 rs1562817224 GRCh37: 7:107302125-107302125
GRCh38: 7:107661680-107661680
33 SLC26A4 NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val) SNV Pathogenic 560910 rs1562822565 GRCh37: 7:107312595-107312595
GRCh38: 7:107672150-107672150
34 SLC26A4-AS1 , SLC26A4 NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter) SNV Pathogenic 560911 rs1562817529 GRCh37: 7:107302240-107302240
GRCh38: 7:107661795-107661795
35 TBCEL-TECTA , TECTA NM_005422.2(TECTA):c.1774G>A (p.Val592Met) SNV Pathogenic 560912 rs1565522273 GRCh37: 11:120996581-120996581
GRCh38: 11:121125872-121125872
36 TMC1 NM_138691.2(TMC1):c.1224+2T>C SNV Pathogenic 560913 rs1564555240 GRCh37: 9:75404235-75404235
GRCh38: 9:72789319-72789319
37 TMC1 NM_138691.2(TMC1):c.1209G>A (p.Trp403Ter) SNV Pathogenic 560914 rs773851192 GRCh37: 9:75404218-75404218
GRCh38: 9:72789302-72789302
38 TMC1 NM_138691.2(TMC1):c.1728C>G (p.Asn576Lys) SNV Pathogenic 560915 rs761261855 GRCh37: 9:75431091-75431091
GRCh38: 9:72816175-72816175
39 TMC1 NM_138691.2(TMC1):c.945G>A (p.Trp315Ter) SNV Pathogenic 560916 rs1564554255 GRCh37: 9:75403315-75403315
GRCh38: 9:72788399-72788399
40 USH1G NM_173477.5(USH1G):c.812del (p.Pro271fs) Deletion Pathogenic 560917 rs1567939793 GRCh37: 17:72916119-72916119
GRCh38: 17:74920024-74920024
41 USH1G NM_173477.5(USH1G):c.511G>T (p.Glu171Ter) SNV Pathogenic 560918 rs201866631 GRCh37: 17:72916420-72916420
GRCh38: 17:74920325-74920325
42 USH2A-AS1 , USH2A NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter) SNV Pathogenic 560919 rs767797828 GRCh37: 1:216373119-216373119
GRCh38: 1:216199777-216199777
43 WHRN NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs) Deletion Pathogenic 560920 rs1564113368 GRCh37: 9:117166205-117166206
GRCh38: 9:114403925-114403926
44 SIX1 NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser) SNV Pathogenic 666609 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
45 EYA1 NM_000503.6(EYA1):c.1361-1G>A SNV Pathogenic 807413 rs397517917 GRCh37: 8:72127964-72127964
GRCh38: 8:71215729-71215729
46 EYA1 NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter) SNV Likely pathogenic 417930 rs1060499603 GRCh37: 8:72123474-72123474
GRCh38: 8:71211239-71211239
47 EYA1 NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro) SNV Likely pathogenic 48106 rs397517920 GRCh37: 8:72111606-72111606
GRCh38: 8:71199371-71199371
48 BDP1 NM_018429.3(BDP1):c.1714G>T (p.Val572Phe) SNV Likely pathogenic 812719 rs1187285510 GRCh37: 5:70791150-70791150
GRCh38: 5:71495323-71495323
49 EYA1 NM_000503.6(EYA1):c.-75G>C SNV Uncertain significance 363667 rs558296770 GRCh37: 8:72273902-72273902
GRCh38: 8:71361667-71361667
50 EYA1 NM_000503.6(EYA1):c.-326G>T SNV Uncertain significance 363675 rs551597748 GRCh37: 8:72274153-72274153
GRCh38: 8:71361918-71361918

UniProtKB/Swiss-Prot genetic disease variations for Branchiootic Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 EYA1 p.Glu363Lys VAR_016864 rs121909198
2 EYA1 p.Arg547Gly VAR_016868 rs121909197
3 EYA1 p.Ser242Gly VAR_044452 rs191838840

Copy number variations for Branchiootic Syndrome 1 from CNVD:

7 (show all 12)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 101483 16 3862993 3941884 Deletion Deafness
2 118035 17 75300000 81195210 Gain or loss ACTG1 Deafness
3 118037 17 75300000 81195210 Gain or loss FSCN2 Deafness
4 163890 22 32200000 37600000 Gain or loss MYH9 Deafness
5 195551 5 152100000 155600000 Deletion Deafness
6 195556 5 152100000 155600000 Deletion FAM172A Deafness
7 195561 5 152100000 155600000 Deletion FAM114A2 Deafness
8 195566 5 152100000 155600000 Deletion GALNT10 Deafness
9 195571 5 152100000 155600000 Deletion HAND1 Deafness
10 195576 5 152100000 155600000 Deletion MFAP3 Deafness
11 195581 5 152100000 155600000 Deletion NR2F1 Deafness
12 195586 5 152100000 155600000 Deletion SAP30L Deafness

Expression for Branchiootic Syndrome 1

Search GEO for disease gene expression data for Branchiootic Syndrome 1.

Pathways for Branchiootic Syndrome 1

GO Terms for Branchiootic Syndrome 1

Cellular components related to Branchiootic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 apical plasma membrane GO:0016324 9.62 SLC26A4 OTOG MYO7A MARVELD2
2 stereocilium bundle GO:0032421 9.26 PTPRQ EPS8
3 stereocilium base GO:0120044 9.16 PJVK MYO7A
4 stereocilium GO:0032420 9.02 MYO7A LOXHD1 GRXCR1 EPS8 CDH23
5 tricellular tight junction GO:0061689 8.96 MARVELD2 ILDR1

Biological processes related to Branchiootic Syndrome 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cochlea morphogenesis GO:0090103 9.54 SIX1 EYA1
2 middle ear morphogenesis GO:0042474 9.52 SIX1 EYA1
3 pharyngeal system development GO:0060037 9.51 SIX1 EYA1
4 inner ear development GO:0048839 9.5 SIX1 MYO7A GJB2
5 neuron fate specification GO:0048665 9.49 SIX1 EYA1
6 aorta morphogenesis GO:0035909 9.48 SIX1 EYA1
7 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.46 PTPRQ PJVK
8 sensory perception of light stimulus GO:0050953 9.43 MYO7A CDH23
9 equilibrioception GO:0050957 9.4 MYO7A CDH23
10 sensory perception of sound GO:0007605 9.4 SLC26A4 SIX1 PJVK OTOG OTOF MYO7A
11 otic vesicle development GO:0071599 9.37 SIX1 EYA1
12 inner ear receptor cell stereocilium organization GO:0060122 9.33 MYO7A GRXCR1 CDH23
13 positive regulation of secondary heart field cardioblast proliferation GO:0072513 9.26 SIX1 EYA1
14 inner ear morphogenesis GO:0042472 9.26 SIX1 PTPRQ MYO7A EYA1

Sources for Branchiootic Syndrome 1

3 CDC
7 CNVD
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18 ExPASy
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