BOS1
MCID: BRN108
MIFTS: 62

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 56 73 13 71
Anterior Segment Anomalies with or Without Cataract 56 73 29
Deafness 43 39 17
Bo Syndrome 1 56 73
Bos1 56 73
Branchiootic Syndrome, Type 1 39
Branchio-Otic Dysplasia 1 73
Branchio-Otic Syndrome 1 73
Branchiootic Dysplasia 56
Asa 73

Characteristics:

OMIM:

56
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 56 602588
UMLS 71 C1865143

Summaries for Branchiootic Syndrome 1

UniProtKB/Swiss-Prot : 73 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 nonsyndromic deafness and deafness, autosomal recessive 3. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Dexamethasone acetate and Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain, and related phenotypes are microtia and sensorineural hearing impairment

OMIM : 56 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)

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 2081)
# Related Disease Score Top Affiliating Genes
1 nonsyndromic deafness 34.2 OTOG GJB2
2 deafness, autosomal recessive 3 34.2 MYO7A GJB2
3 deafness, autosomal recessive 18a 34.2 MYO7A CDH23
4 deafness, x-linked 2 34.1 SLC26A4 GJB2 EYA1
5 autosomal recessive nonsyndromic deafness 36 34.0 GRXCR1 CDH23
6 deafness, autosomal recessive 25 34.0 PJVK GRXCR1
7 deafness, autosomal recessive 15 34.0 PJVK ILDR1
8 deafness, autosomal recessive 84a 34.0 PTPRQ CDH23
9 deafness, autosomal recessive 55 34.0 GRXCR1 CDH23
10 deafness, autosomal dominant 3b 33.9 TECTA GJB2
11 deafness, autosomal recessive 40 33.9 GRXCR1 CDH23
12 deafness, autosomal recessive 67 33.9 PJVK ILDR1
13 deafness, autosomal dominant 25 33.9 OTOF MYO7A
14 deafness, x-linked 4 33.9 TECTA GPSM2
15 deafness, autosomal recessive 35 33.9 PJVK GRXCR1
16 deafness, autosomal dominant 9 33.9 MYO7A GJB2
17 deafness, autosomal recessive 59 33.9 PJVK OTOF
18 deafness, autosomal recessive 6 33.9 TMC1 PJVK
19 deafness, x-linked 5, with peripheral neuropathy 33.9 PJVK OTOF
20 deafness, autosomal recessive 26 33.8 TECTA GJB2
21 deafness, autosomal recessive 39 33.8 PTPRQ LOXHD1 GJB2
22 deafness, autosomal dominant 41 33.8 SLC26A4 GJB2 CDH23
23 deafness, autosomal dominant 67 33.8 OTOF GJB2
24 deafness, autosomal dominant 4b 33.8 TECTA OTOG
25 autosomal recessive nonsyndromic deafness 32 33.8 PJVK GPSM2
26 deafness, autosomal dominant 10 33.8 TECTA EYA1
27 deafness, autosomal dominant 22 33.7 PTPRQ MYO7A
28 deafness, autosomal recessive 48 33.7 TMC1 MYO7A
29 deafness, autosomal recessive 91 33.7 TECTA GJB2
30 deafness, autosomal recessive 37 33.7 PTPRQ MYO7A
31 deafness, autosomal recessive 28 33.7 TECTA OTOF GRXCR1
32 deafness, autosomal recessive 18b 33.6 TECTA OTOG
33 deafness, autosomal recessive 49 33.6 PJVK MARVELD2 ILDR1 GJB2
34 deafness, autosomal dominant 51 33.6 TECTA MARVELD2
35 deafness, autosomal dominant 15 33.6 TMC1 MYO7A
36 deafness, autosomal recessive 24 33.6 TECTA PJVK ILDR1
37 deafness, autosomal dominant 12 33.5 TECTA OTOG
38 deafness, autosomal recessive 29 33.5 TECTA MARVELD2 ILDR1 GJB2
39 y-linked deafness 33.5 TMC1 OTOF
40 deafness, autosomal recessive 63 33.5 TMC1 PJVK MYO7A
41 deafness, autosomal recessive 27 33.4 TMC1 PJVK
42 deafness, autosomal recessive 53 33.4 TECTA PJVK OTOG
43 deafness, autosomal dominant 1 33.3 TECTA PTPRQ MYO7A GJB2
44 deafness, autosomal dominant 11 33.3 USH1G MYO7A GJB2 CDH23
45 deafness, autosomal recessive 85 33.3 PTPRQ PJVK OTOF
46 deafness, autosomal recessive 21 33.3 TECTA PJVK OTOG GJB2
47 deafness, autosomal recessive 79 33.3 TMC1 PTPRQ GRXCR1 GJB2
48 deafness, autosomal recessive 77 33.2 SLC26A4 PJVK LOXHD1 GJB2 CDH23
49 deafness, autosomal dominant 6 33.2 TECTA SLC26A4 MYO7A GJB2 CDH23
50 deafness, autosomal recessive 13 33.2 TMC1 PJVK GRXCR1 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:

56
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

MGI Mouse Phenotypes related to Branchiootic Syndrome 1:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.09 CDH23 CLCNKA EPS8 EYA1 GPSM2 GRXCR1
2 hearing/vestibular/ear MP:0005377 9.93 CDH23 CLCNKA EPS8 EYA1 GJB2 GPSM2
3 nervous system MP:0003631 9.58 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 209)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
3
Cisplatin Approved Phase 4 15663-27-1 2767 441203 84093
4
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
5
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
6
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
7
Acetylcysteine Approved, Investigational Phase 4 616-91-1 12035
8
Citalopram Approved Phase 4 59729-33-8 2771
9
Norepinephrine Approved Phase 4 51-41-2 439260
10
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
11
Cysteine Approved, Nutraceutical Phase 4 52-90-4 5862
12 Gastrointestinal Agents Phase 4
13 Hormones Phase 4
14 glucocorticoids Phase 4
15 Antineoplastic Agents, Hormonal Phase 4
16
protease inhibitors Phase 4
17 Antiemetics Phase 4
18 Hormone Antagonists Phase 4
19 HIV Protease Inhibitors Phase 4
20 Dexamethasone 21-phosphate Phase 4
21 BB 1101 Phase 4
22 Immunologic Factors Phase 4
23 Immunoglobulins Phase 4
24 Antibodies Phase 4
25 Rho(D) Immune Globulin Phase 4
26 Immunoglobulins, Intravenous Phase 4
27 gamma-Globulins Phase 4
28 Pharmaceutical Solutions Phase 4
29 Ginkgo Phase 4
30 Anesthetics Phase 4
31 Diphosphonates Phase 4
32 Adrenergic alpha-Agonists Phase 4
33 Adrenergic Agents Phase 4
34 Adrenergic Agonists Phase 4
35 Hypnotics and Sedatives Phase 4
36 Anesthetics, Local Phase 4
37 Antioxidants Phase 4
38 Respiratory System Agents Phase 4
39 Antidotes Phase 4
40 Expectorants Phase 4
41 N-monoacetylcystine Phase 4
42 Neurotransmitter Agents Phase 4
43 Antidepressive Agents Phase 4
44 Psychotropic Drugs Phase 4
45 Serotonin Uptake Inhibitors Phase 4
46 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
47 Duloxetine Hydrochloride Phase 4
48 Dopamine Agents Phase 4
49
Serotonin Investigational, Nutraceutical Phase 4 50-67-9 5202
50
Lansoprazole Approved, Investigational Phase 2, Phase 3 103577-45-3 3883

Interventional clinical trials:

(show top 50) (show all 517)
# Name Status NCT ID Phase Drugs
1 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
2 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
3 The Influence of The Ear Popper on Serous Otitis Media and on the Accompanying Conductive Hearing Loss in Children Unknown status NCT00393159 Phase 4
4 Relationship Between Auto NRT and Behavioural T & C Levels With the Nucleus Freedom Cochlear Implant Unknown status NCT00331539 Phase 4
5 Bilateral Benefit in Adult Users of the HiRes 90K Bionic Ear System Completed NCT00205881 Phase 4
6 Effect of Maternal Ante-natal Music Exposure on Neonatal Behavior Measured Using Brazelton Neonatal Behavioral Scale: A Randomized Open-label Study Completed NCT01278329 Phase 4
7 Phase 4 Study of a Reminiscence Program to Improve Quality of Life of Alzheimer's Disease Long Term Care Residents Using a Randomized Controlled Trial Completed NCT01295957 Phase 4
8 Phase 4 Study of Use of High-dose Intravenous Immune Globulin for Prevent Hyperbilirubinemia Due Rh Hemolytic Disease in Newborns Infants Completed NCT00288600 Phase 4 Intravenous Immunoglobulin;Normal saline solution
9 Prevention of Cisplatin-Induced Hearing Loss by Intratympanic Dexamethasone Treatment. Completed NCT01372904 Phase 4 Dexamethasone Phosphate
10 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
11 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
12 Comparision of Different Doses of Dexmedetomidine With Low Dose Bupivacaine in Selective Spinal Anesthesia for Transurethral Resection of Prostate in Elderly Males. Recruiting NCT04037774 Phase 4 Dexmedetomidine
13 Clinical Trial: Intratympanic Injection of N-acetylcysteine for Protection of Cisplatin-induced Ototoxicity Not yet recruiting NCT04226456 Phase 4 N-acetyl cysteine
14 Sensation and Psychiatry: Linking Age-Related Hearing Loss to Late-Life Depression and Cognitive Decline Suspended NCT03321006 Phase 4 Duloxetine or escitalopram
15 Ketorolac for Analgesia followiNG Autologous Breast RecOnstructiOn Withdrawn NCT03007381 Phase 4 Ketorolac Tromethamine;Normal Saline
16 Bed Rest for Idiopathic Sudden Sensorineural Hearing Loss Unknown status NCT00416143 Phase 2, Phase 3 prednisone - oral corticosteroid 1mg/kg/D for 1 week
17 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
18 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
19 Effect of Early Application of Recombinant Human Erythropoietin in Premature Infants on White Matter Lesions and Neurodevelopmental Outcome Unknown status NCT03110341 Phase 3 Erythropoietin;Normal saline
20 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
21 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
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 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
24 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
25 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)
26 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
27 Prevention of Human Cytomegalovirus (HCMV) Mother-to-fetus Transmission by Administration of Virus-specific Hyperimmune Globulin to Pregnant Women With Primary HCMV Infection Completed NCT00881517 Phase 2, Phase 3 HCMV-specific hyperimmune globulin (Cytotect®);Isotonic solution of sodium chloride (placebo)
28 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
29 L-Thyroxine Supplementation for Preterm Newborns Less Than 32 Weeks of Gestation With Transient Hypothyroxinemia of Prematurity: a Prospective Randomized Double-blind Trial Completed NCT01306227 Phase 3 L-Thyroxine;water
30 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
31 Use of Acupuncture In Autistic Spectrum Disorder Completed NCT00346736 Phase 3
32 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
33 Feasibility Study: Does Screening Plus Patient Decision Aids Reduce Unnecessary Surgical Referrals for Total Joint Arthroplasty in Practices With Long Waiting Lists for Surgical Consults? Completed NCT00743951 Phase 3
34 A Randomized Observer-blinded Controlled Non-inferiority Trial to Evaluate the Immunogenicity of Locally Manufactured Meningococcal ACWY Vaccine 'Ingovax ACWY' in Bangladeshi Healthy Adults. Completed NCT03263403 Phase 2, Phase 3
35 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
36 Effectiveness of Intranasal Dexmedetomidine for Sedated Auditory Brainstem Response Testing Recruiting NCT03530371 Phase 3 Dexmedetomidine Hydrochloride
37 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
38 Prevention of COVID19 Infection by the Administration of Hydroxychloroquine to Institutionalized Older People and Nursing Home Staff. A Cluster Randomized Controlled Stepped-wedge Trial (PREVICHARM Study) Not yet recruiting NCT04400019 Phase 2, Phase 3 Hydroxychloroquine Only Product in Oral Dose Form
39 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
40 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
41 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
42 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
43 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
44 Epidemiology of Cytomegalovirus -- Evaluation of the Immunogenicity and Efficacy of the Towne Strain of CMV in Seronegative Women: A Phase II-III Study Terminated NCT00201448 Phase 2, Phase 3
45 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
46 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
47 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
48 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)
49 Effect of Topical and Systemic Tranexemic Acid on Bleeding and Quality of Surgical Field During Ear Exploration Surgery. A Double Blind Randomized Clinical Trial Unknown status NCT03112135 Phase 2 Tranexamic Acid;Tranexamic Acid;Adrenalin
50 Daily Exposure Monitoring of Noise Study Unknown status NCT01714375 Phase 2

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 Anterior Segment Anomalies with or Without Cataract 29

Anatomical Context for Branchiootic Syndrome 1

MalaCards organs/tissues related to Branchiootic Syndrome 1:

40
Bone, Testes, Brain, Cortex, Eye, Thyroid, Skin

Publications for Branchiootic Syndrome 1

Articles related to Branchiootic Syndrome 1:

(show top 50) (show all 20178)
# Title Authors PMID Year
1
Identification of a novel EYA1 mutation presenting in a newborn with laryngomalacia, glossoptosis, retrognathia, and pectus excavatum. 56 6
16691597 2006
2
BOR and BO syndromes are allelic defects of EYA1. 6 56
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). 56 61
9788564 1998
4
Otological aspects of the earpit-deafness syndrome. 61 56
6973119 1981
5
The earpits-deafness syndrome. Clinical and genetic aspects. 61 56
6964893 1980
6
Hereditary malformations of the ear in three generations. Marginal pits, pre-auricular appendages, malformations of the auricle and conductive deafness. 56 61
14006981 1962
7
Hereditary deafness in family with ear-pits (fistula auris congenita). 56 61
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. 56
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. 56
10655545 2000
12
Branchiootorenal Spectrum Disorder 6
20301554 1999
13
Characterization of a translocation-associated deletion defines the candidate region for the gene responsible for branchio-oto-renal syndrome. 56
8786145 1996
14
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. 56
8824802 1996
15
Tricho-rhino-phalangeal and branchio-oto syndromes in a family with an inherited rearrangement of chromosome 8q. 56
2773990 1989
16
Branchio-oto-renal dysplasia and branchio-oto dysplasia: two distinct autosomal dominant disorders. 56
657583 1978
17
The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome. 56
1083706 1976
18
Familial hearing loss associated with branchial fistulas. 56
5365063 1969
19
Pou3f4-expressing otic mesenchyme cells promote spiral ganglion neuron survival in the postnatal mouse cochlea. 61
31994726 2020
20
Core outcomes in neonatology: development of a core outcome set for neonatal research. 61
31732683 2020
21
Endogenous α1-antitrypsin levels in the perilymphatic fluid correlates with severity of hearing loss. 61
32246580 2020
22
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss. 61
32279305 2020
23
When transcripts matter: delineating between non-syndromic hearing loss DFNB32 and hearing impairment infertile male syndrome (HIIMS). 61
32231217 2020
24
Single-Sided Deafness-Outcomes of Three Interventions for Profound Unilateral Sensorineural Hearing Loss: A Randomized Clinical Trial. 61
32574478 2020
25
What can we learn from adult cochlear implant recipients with single-sided deafness who became elective non-users? 61
32122282 2020
26
Evaluating the Decision for Cochlear Implantation in Individuals With Single-Sided Deafness (SSD); Implementing the SSD Consensus Protocol Into Clinical Routine. 61
32068694 2020
27
Low penetrance of hearing loss in two Chinese families carrying the mitochondrial tRNASer(UCN) mutations. 61
32377700 2020
28
Progressive Dominant Hearing Loss (Autosomal Dominant Deafness-41) and P2RX2 Gene Mutations: A Phenotype-Genotype Study. 61
31593348 2020
29
Long-term audiologic outcomes after cochlear implantation for single-sided deafness. 61
31710701 2020
30
Surgical complications of cochlear implantation: a 25-year retrospective analysis of cases in a tertiary academic center. 61
32185500 2020
31
Cortical deafness of following bilateral temporal lobe stroke. 61
32386850 2020
32
New Imaging Findings of Incomplete Partition Type III Inner Ear Malformation and Literature Review. 61
32467182 2020
33
Inner-ear malformations as a cause of single-sided deafness. 61
32508296 2020
34
The heart in m.3243A>G carriers. 61
30128910 2020
35
A novel variant in diaphanous homolog 1 (DIAPH1) as the cause of auditory neuropathy in a Chinese family. 61
32087478 2020
36
Electric-acoustic stimulation with longer electrodes for potential deterioration in low-frequency hearing. 61
32498646 2020
37
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations. 61
32409007 2020
38
A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. 61
32346411 2020
39
Towards optogenetic approaches for hearing restoration. 61
32033755 2020
40
A rare genomic duplication in 2p14 underlies autosomal dominant hearing loss DFNA58. 61
32337552 2020
41
Detailed MR imaging assessment of endolymphatic hydrops in patients with SLC26A4 mutations. 61
32536503 2020
42
The mechanoelectrical transducer channel is not required for regulation of cochlear blood flow during loud sound exposure in mice. 61
32514013 2020
43
[Hearing rehabilitation using a cochlear implant - a way of reducing tinnitus in the elderly]. 61
32575139 2020
44
First results of electrode reimplantation and its hypothetical dependence from artificial brain maturation. 61
32562027 2020
45
Device profile of the MED-EL Cochlear Implant System for hearing loss: overview of its safety and efficacy. 61
32552086 2020
46
A behavioral method to estimate charge integration efficiency in cochlear implant users. 61
32522551 2020
47
Expression pattern of the small muscle protein, X-linked (smpx) gene during zebrafish embryonic and larval developmental stages. 61
32197943 2020
48
Options and strategies for hearing restoration in pediatric neurofibromatosis type 2. 61
32564156 2020
49
Genomics, Epigenetics, and Hearing Loss in Neurofibromatosis Type 2. 61
32150022 2020
50
Evaluation of a Model of Long-Term Middle Ear Catheterization for Repeat Infusion Administration and Cochlear Hair Cell Injury in Guinea Pigs. 61
32323618 2020

Variations for Branchiootic Syndrome 1

ClinVar genetic disease variations for Branchiootic Syndrome 1:

6 (show top 50) (show all 149) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPSM2 NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)SNV Pathogenic 560890 rs755804651 1:109439567-109439567 1:108896945-108896945
2 CLCNKA NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)SNV Pathogenic 560887 rs1557458426 1:16359720-16359720 1:16033225-16033225
3 USH2A NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter)SNV Pathogenic 560919 rs767797828 1:216373119-216373119 1:216199777-216199777
4 PJVK NM_001042702.4(PJVK):c.158C>G (p.Ser53Ter)SNV Pathogenic 560903 rs538027448 2:179318294-179318294 2:178453567-178453567
5 PJVK NM_001042702.4(PJVK):c.162_172del (p.Pro55fs)deletion Pathogenic 560904 rs1559366084 2:179318296-179318306 2:178453569-178453579
6 PJVK NM_001042702.4(PJVK):c.406C>T (p.Arg136Ter)SNV Pathogenic 560905 rs367688416 2:179319253-179319253 2:178454526-178454526
7 OTOF NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)duplication Pathogenic 560900 rs1558480402 2:26696890-26696891 2:26474022-26474023
8 OTOF NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)SNV Pathogenic 560901 rs1558490542 2:26705303-26705303 2:26482435-26482435
9 ILDR1 NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)deletion Pathogenic 560892 rs1559870857 3:121712434-121712435 3:121993587-121993588
10 GRXCR1 NM_001080476.2(GRXCR1):c.655G>A (p.Glu219Lys)SNV Pathogenic 560891 rs1560690591 4:43022398-43022398 4:43020381-43020381
11 MARVELD2 NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)duplication Pathogenic 560893 rs1561299289 5:68728393-68728394 5:69432566-69432567
12 SLC26A4 NM_000441.2(SLC26A4):c.42del (p.Glu15fs)deletion Pathogenic 560909 rs1562817224 7:107302125-107302125 7:107661680-107661680
13 SLC26A4 NM_000441.2(SLC26A4):c.154A>T (p.Lys52Ter)SNV Pathogenic 560911 rs1562817529 7:107302240-107302240 7:107661795-107661795
14 SLC26A4 NM_000441.2(SLC26A4):c.317C>T (p.Ala106Val)SNV Pathogenic 560910 rs1562822565 7:107312595-107312595 7:107672150-107672150
15 SLC26A4 NM_000441.2(SLC26A4):c.1264-3C>GSNV Pathogenic 560908 rs1562835391 7:107334845-107334845 7:107694400-107694400
16 WHRN NM_015404.4(WHRN):c.2388_2389del (p.Asn796fs)deletion Pathogenic 560920 rs1564113368 9:117166205-117166206 9:114403925-114403926
17 TMC1 NM_138691.2(TMC1):c.945G>A (p.Trp315Ter)SNV Pathogenic 560916 rs1564554255 9:75403315-75403315 9:72788399-72788399
18 TMC1 NM_138691.2(TMC1):c.1209G>A (p.Trp403Ter)SNV Pathogenic 560914 rs773851192 9:75404218-75404218 9:72789302-72789302
19 TMC1 NM_138691.2(TMC1):c.1224+2T>CSNV Pathogenic 560913 rs1564555240 9:75404235-75404235 9:72789319-72789319
20 TMC1 NM_138691.2(TMC1):c.1728C>G (p.Asn576Lys)SNV Pathogenic 560915 rs761261855 9:75431091-75431091 9:72816175-72816175
21 CDH23 NM_022124.6(CDH23):c.6202A>C (p.Thr2068Pro)SNV Pathogenic 560886 rs762118583 10:73551041-73551041 10:71791284-71791284
22 CDH23 NM_022124.6(CDH23):c.8351_8352insCGAT (p.Leu2785fs)insertion Pathogenic 560885 rs1564805114 10:73567315-73567316 10:71807558-71807559
23 TECTA NM_005422.2(TECTA):c.1774G>A (p.Val592Met)SNV Pathogenic 560912 rs1565522273 11:120996581-120996581 11:121125872-121125872
24 OTOG NM_001277269.1(OTOG):c.7235del (p.Cys2412fs)deletion Pathogenic 560902 rs1565127413 11:17655353-17655353 11:17633806-17633806
25 MYO7A NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)SNV Pathogenic 560897 rs192378817 11:76894191-76894191 11:77183146-77183146
26 MYO7A NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)SNV Pathogenic 560899 rs1565430886 11:76900475-76900475 11:77189430-77189430
27 MYO7A NM_000260.4(MYO7A):c.5326+3A>GSNV Pathogenic 560895 rs1565469959 11:76914265-76914265 11:77203220-77203220
28 MYO7A NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)SNV Pathogenic 560898 rs751242455 11:76915139-76915139 11:77204094-77204094
29 MYO7A NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)SNV Pathogenic 560894 rs746667217 11:76916548-76916548 11:77205503-77205503
30 EPS8 NM_004447.6(EPS8):c.205-8A>GSNV Pathogenic 560888 rs180899529 12:15822767-15822767 12:15669833-15669833
31 PTPRQ NM_001145026.2(PTPRQ):c.5156_5157AT[1] (p.Ile1720fs)short repeat Pathogenic 560907 rs1565819402 12:81007608-81007609 12:80613829-80613830
32 PTPRQ NM_001145026.2(PTPRQ):c.6739-1G>ASNV Pathogenic 560906 rs1565855932 12:81072380-81072380 12:80678601-80678601
33 GJB2 NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)SNV Pathogenic 560889 rs150529554 13:20763366-20763366 13:20189227-20189227
34 USH1G NM_173477.5(USH1G):c.812del (p.Pro271fs)deletion Pathogenic 560917 rs1567939793 17:72916119-72916119 17:74920024-74920024
35 USH1G NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)SNV Pathogenic 560918 rs201866631 17:72916420-72916420 17:74920325-74920325
36 EYA1 NM_000503.6(EYA1):c.1361-1G>ASNV Pathogenic 807413 8:72127964-72127964 8:71215729-71215729
37 LOXHD1 NM_144612.6(LOXHD1):c.746G>A (p.Trp249Ter)SNV Pathogenic 448957 rs1248889536 18:44190752-44190752 18:46610789-46610789
38 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)SNV Pathogenic 7943 rs121909202 8:72156897-72156897 8:71244662-71244662
39 EYA1 NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs)deletion Pathogenic 7944 rs606231356 8:72127712-72127718 8:71215477-71215483
40 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
41 EYA1 EYA1, 2-BP INS, 870GTinsertion Pathogenic 7931
42 EYA1 EYA1, 8-BP DEL, NT297deletion Pathogenic 7932
43 EYA1 NM_000503.6(EYA1):c.1615G>T (p.Glu539Ter)SNV Likely pathogenic 417930 rs1060499603 8:72123474-72123474 8:71211239-71211239
44 EYA1 NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)SNV Likely pathogenic 48106 rs397517920 8:72111606-72111606 8:71199371-71199371
45 BDP1 NM_018429.3(BDP1):c.1714G>T (p.Val572Phe)SNV Likely pathogenic 812719 5:70791150-70791150 5:71495323-71495323
46 SIX1 NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)SNV Conflicting interpretations of pathogenicity 666609 14:61115522-61115522 14:60648804-60648804
47 EYA1 NM_000503.6(EYA1):c.164C>T (p.Thr55Met)SNV Conflicting interpretations of pathogenicity 178689 rs201434219 8:72246370-72246370 8:71334135-71334135
48 EYA1 NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)SNV Conflicting interpretations of pathogenicity 501623 rs201504674 8:72184094-72184094 8:71271859-71271859
49 MYO7A NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)SNV Conflicting interpretations of pathogenicity 517448 rs757460257 11:76909603-76909603 11:77198558-77198558
50 EYA1 NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)SNV Conflicting interpretations of pathogenicity 7938 rs121909199 8:72129011-72129011 8:71216776-71216776

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

73
# 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 AK124699 Deafness
6 195556 5 152100000 155600000 Deletion C5ORF21 Deafness
7 195561 5 152100000 155600000 Deletion C5ORF3 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 membrane GO:0016020 10.34 USH2A USH1G TMC1 TECTA SLC26A4 PTPRQ
2 plasma membrane GO:0005886 10 USH2A USH1G TMC1 TECTA SLC26A4 OTOG
3 apical plasma membrane GO:0016324 9.72 USH2A SLC26A4 OTOG MYO7A MARVELD2
4 photoreceptor inner segment GO:0001917 9.58 USH2A USH1G MYO7A
5 photoreceptor connecting cilium GO:0032391 9.54 USH2A USH1G MYO7A
6 stereocilium tip GO:0032426 9.46 TMC1 EPS8
7 tricellular tight junction GO:0061689 9.26 MARVELD2 ILDR1
8 stereocilium bundle GO:0032421 9.13 USH2A PTPRQ EPS8
9 stereocilium GO:0032420 9.02 MYO7A LOXHD1 GRXCR1 EPS8 CDH23

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

# Name GO ID Score Top Affiliating Genes
1 inner ear morphogenesis GO:0042472 9.67 USH1G PTPRQ MYO7A EYA1
2 photoreceptor cell maintenance GO:0045494 9.58 USH2A USH1G CDH23
3 inner ear receptor cell differentiation GO:0060113 9.5 USH2A USH1G MYO7A
4 sensory perception of sound GO:0007605 9.5 USH2A USH1G TMC1 TECTA SLC26A4 PJVK
5 inner ear receptor cell stereocilium organization GO:0060122 9.46 USH1G MYO7A GRXCR1 CDH23
6 detection of mechanical stimulus involved in sensory perception of sound GO:0050910 9.43 TMC1 PTPRQ
7 equilibrioception GO:0050957 9.43 USH1G MYO7A CDH23
8 sensory perception of light stimulus GO:0050953 9.26 USH2A USH1G MYO7A CDH23

Molecular functions related to Branchiootic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.17 USH2A USH1G MYO7A ILDR1 GPSM2 GJB2

Sources for Branchiootic Syndrome 1

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