BOS1
MCID: BRN108
MIFTS: 61

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 deafness, autosomal recessive 3 and deafness, autosomal dominant 2a. An important gene associated with Branchiootic Syndrome 1 is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). The drugs Dexamethasone and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain, and related phenotypes are low-set ears and microtia

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 2085)
# Related Disease Score Top Affiliating Genes
1 deafness, autosomal recessive 3 34.2 MYO7A GJB2
2 deafness, autosomal dominant 2a 34.2 GJB2 CLCNKA
3 deafness, autosomal recessive 97 34.1 ILDR1 GJB2
4 deafness, autosomal dominant 27 34.1 GRXCR1 CDH23
5 deafness, autosomal dominant 3b 34.1 PTPRQ GJB2
6 deafness, autosomal recessive 28 34.0 OTOF GRXCR1
7 deafness, autosomal recessive 29 34.0 MARVELD2 ILDR1 GJB2
8 deafness, autosomal recessive 55 34.0 GRXCR1 CDH23
9 deafness, autosomal dominant 2b 34.0 SLC26A4 GJB2
10 deafness, autosomal recessive 40 34.0 GRXCR1 CDH23
11 deafness, autosomal recessive 67 34.0 PJVK ILDR1
12 deafness, autosomal recessive 93 34.0 PJVK GJB2
13 deafness, autosomal recessive 15 33.9 PJVK ILDR1
14 deafness, autosomal dominant 54 33.9 GRXCR1 GJB2
15 deafness, autosomal dominant 25 33.9 OTOF MYO7A GJB2
16 deafness, autosomal dominant 17 33.9 OTOF MYO7A
17 deafness, autosomal recessive 35 33.9 PJVK GRXCR1
18 deafness, autosomal dominant 22 33.9 PTPRQ MYO7A
19 deafness, autosomal dominant 1 33.9 PTPRQ MYO7A GJB2
20 deafness, autosomal dominant 9 33.9 MYO7A GJB2
21 deafness, autosomal recessive 84a 33.9 PTPRQ CDH23
22 deafness, autosomal recessive 39 33.9 PTPRQ LOXHD1 GJB2
23 deafness, autosomal recessive 26 33.9 TECTA GJB2
24 deafness, autosomal recessive 91 33.8 PTPRQ GJB2
25 deafness, autosomal recessive 30 33.8 PJVK MYO7A EPS8
26 deafness, autosomal dominant 67 33.8 OTOF GJB2
27 deafness, autosomal dominant 4b 33.8 OTOG GJB2
28 deafness, autosomal recessive 48 33.8 TMC1 MYO7A
29 autosomal recessive nonsyndromic deafness 32 33.8 PJVK GPSM2
30 deafness, autosomal recessive 59 33.8 PJVK OTOF GJB2
31 deafness, autosomal dominant 10 33.8 TMC1 EYA1
32 deafness, autosomal recessive 25 33.7 PTPRQ PJVK GRXCR1
33 deafness, autosomal dominant 20 33.7 USH1G CDH23
34 deafness, autosomal recessive 18b 33.7 TECTA OTOG
35 deafness, autosomal recessive 49 33.6 PJVK MARVELD2 ILDR1 GJB2
36 deafness, autosomal recessive 85 33.6 PTPRQ PJVK
37 deafness, autosomal dominant 12 33.6 TECTA OTOG
38 deafness, autosomal dominant 6 33.5 SLC26A4 PJVK MYO7A GJB2
39 deafness, autosomal recessive 63 33.5 TMC1 PJVK MYO7A
40 deafness, autosomal recessive 27 33.4 TMC1 PJVK
41 deafness, autosomal recessive 13 33.4 TMC1 PJVK GRXCR1
42 x-linked nonsyndromic deafness 33.4 SLC26A4 GJB2
43 deafness, autosomal recessive 42 33.4 TECTA PJVK MARVELD2 ILDR1
44 deafness, autosomal dominant 36 33.4 TMC1 SLC26A4 GJB2 CDH23
45 deafness, autosomal recessive 61 33.3 SLC26A4 PTPRQ OTOF GRXCR1
46 deafness, autosomal dominant 11 33.3 USH1G MYO7A GJB2 CDH23
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 recessive 24 33.2 TECTA PTPRQ PJVK ILDR1
50 pendred syndrome 33.1 SLC26A4 OTOF 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 low-set ears 31 HP:0000369
2 microtia 31 HP:0008551
3 sensorineural hearing impairment 31 HP:0000407
4 retrognathia 31 HP:0000278
5 preauricular pit 31 HP:0004467
6 hypoplasia of the cochlea 31 HP:0008586
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:
low-set ears
microtia
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 222)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
3
Cisplatin Approved Phase 4 15663-27-1 84093 441203 2767
4
Norepinephrine Approved Phase 4 51-41-2 439260
5
Citalopram Approved Phase 4 59729-33-8 2771
6
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
7
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
8
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
9
Risedronate Approved, Investigational Phase 4 105462-24-6 5245
10 Hormone Antagonists Phase 4
11 Antineoplastic Agents, Hormonal Phase 4
12 glucocorticoids Phase 4
13 Hormones Phase 4
14 Antiemetics Phase 4
15 HIV Protease Inhibitors Phase 4
16
protease inhibitors Phase 4
17 Gastrointestinal Agents Phase 4
18 Autonomic Agents Phase 4
19 BB 1101 Phase 4
20 Dexamethasone 21-phosphate Phase 4
21 Immunoglobulins Phase 4
22 Immunologic Factors Phase 4
23 Antibodies Phase 4
24 Immunoglobulins, Intravenous Phase 4
25 Rho(D) Immune Globulin Phase 4
26 gamma-Globulins Phase 4
27 Neurotransmitter Agents Phase 4
28 Cholinergic Agents Phase 4
29 Pharmaceutical Solutions Phase 4
30 Ginkgo Phase 4
31 Anesthetics Phase 4
32 Serotonin Uptake Inhibitors Phase 4
33 Dopamine Agents Phase 4
34 Psychotropic Drugs Phase 4
35 Antiparkinson Agents Phase 4
36 Serotonin Agents Phase 4
37 Muscarinic Antagonists Phase 4
38 Duloxetine Hydrochloride Phase 4
39 Cholinergic Antagonists Phase 4
40 Antidepressive Agents Phase 4
41 Parasympatholytics Phase 4
42 Serotonin and Noradrenaline Reuptake Inhibitors Phase 4
43 Adrenergic Agonists Phase 4
44 Adrenergic Agents Phase 4
45 Hypnotics and Sedatives Phase 4
46 Adrenergic alpha-2 Receptor Agonists Phase 4
47 Central Nervous System Depressants Phase 4
48 Anesthetics, Local 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 490)
# 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 Treating Hearing Loss to Improve Mood and Cognition in Older Adults Recruiting NCT03321006 Phase 4 Duloxetine
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 Effects of Bisphosphonates on OI-Related Hearing Loss: A Pilot Study Not yet recruiting NCT04152551 Phase 4 Risedronate Oral Tablet
14 Ketorolac for Analgesia followiNG Autologous Breast RecOnstructiOn Withdrawn NCT03007381 Phase 4 Ketorolac Tromethamine;Normal Saline
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 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
17 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
18 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
19 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
20 Sudden Hearing Loss Multicenter Treatment Trial Completed NCT00097448 Phase 3 prednisone;methylprednisolone sodium succinate
21 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
22 Phase 3 Study of Protective Effect of N-acetylcysteine Against From Ototoxicity Completed NCT01271088 Phase 2, Phase 3 N-acetylcysteine
23 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)
24 Chronic Electrical Stimulation of the Auditory Cortex for Intractable Tinnitus Completed NCT00486577 Phase 2, Phase 3
25 Trial of Indomethacin Prophylaxis in Preterm Infants (TIPP) Completed NCT00009646 Phase 3 indomethacin;Indomethacin;Placebo
26 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)
27 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
28 A Pilot, Open Label Trial Assessing the Safety and Efficacy of Betaine in Children With Peroxisome Biogenesis Disorders. Completed NCT01838941 Phase 3 Betaine
29 Use of Acupuncture In Autistic Spectrum Disorder Completed NCT00346736 Phase 3
30 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
31 Tinnitus Retraining Therapy Trial Completed NCT01177137 Phase 3
32 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
33 A Phase III Multicenter, Double-blind, Placebo-controlled, Study Evaluating the Safety, and Efficacy of STR001 Treatment in Adults With Sudden Sensorineural Hearing Loss Recruiting NCT03331627 Phase 3 STR001-IT and STR001-ER
34 Effectiveness of Intranasal Dexmedetomidine for Sedated Auditory Brainstem Response Testing Recruiting NCT03530371 Phase 3 Dexmedetomidine Hydrochloride
35 Inhaled Nitric Oxide and Neuroprotection in Premature Infants Active, not recruiting NCT00515281 Phase 2, Phase 3 inhaled nitric oxide;oxygen
36 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 Not yet recruiting NCT03603314 Phase 2, Phase 3 SENS-401;SENS-401
37 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
38 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
39 Congenital Cytomegalovirus: Efficacy of Antiviral Treatment in a Randomized Controlled Trial Terminated NCT01655212 Phase 3 Valganciclovir
40 Therapeutic Efficacy of Tiludronic Acid on Inner Ear Involvement in Advanced Otosclerosis Terminated NCT01617057 Phase 3 tiludronic acid;Placebo
41 Phase 3 Clinical Trial: D-methionine to Reduce Noise-Induced Hearing Loss (NIHL) Terminated NCT02903355 Phase 3 D-methionine;Placebo
42 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
43 Interest of the Bilateral Cochlear Implantation in the Deep Deaf Children Respect to the Unilateral Implantation - a Randomized Test Withdrawn NCT01499901 Phase 3
44 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
45 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
46 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)
47 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
48 Daily Exposure Monitoring of Noise Study Unknown status NCT01714375 Phase 2
49 Effectiveness of an Intervention by a Health Education Workshop Compared With the Usual Advice to Reduce the Incidence of Falls in Independent 65 Years and Older Not Institutionalized. Primary Prevention.CHANGING TO NEVER FALL. CTNF Unknown status NCT02645006 Phase 2
50 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

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, Skin, Eye, Thyroid

Publications for Branchiootic Syndrome 1

Articles related to Branchiootic Syndrome 1:

(show top 50) (show all 19943)
# 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. 56 6
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). 61 56
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. 61 56
14006981 1962
7
Hereditary deafness in family with ear-pits (fistula auris congenita). 61 56
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
Mothers' emotional experiences related to their child's diagnosis of deafness and cochlear implant surgery: Parenting stress and child's language development. 61
31841781 2020
20
Chronic Disease Self-Management Program in American Sign Language: Evaluation and Recommendations. 61
30132380 2020
21
The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families. 61
31812001 2020
22
Interhemispheric auditory connectivity requires normal access to sound in both ears during development. 61
31838117 2020
23
Usefulness of cochlear implantation in children with single sided deafness. 61
31809969 2020
24
Evidence for gene-smoking interactions for hearing loss and deafness in Japanese American families. 61
31896498 2020
25
Anonychia congenita in different generations of a single Saudi family. 61
32020155 2020
26
Towards optogenetic approaches for hearing restoration. 61
32033755 2020
27
Mutation m.3395A > G in MT-ND1 leads to variable pathologic manifestations. 61
32011699 2020
28
The orphan nuclear receptor estrogen-related receptor beta (ERRβ) in triple-negative breast cancer. 61
31741180 2020
29
A narrative review of research on clinical responses to the problem of sexual offenses in the last decade. 61
32026512 2020
30
Olfaction and smell identification tests: A novel test that may correlate with cochlear implant outcomes. 61
31675533 2020
31
An acoustic and auditory analysis of vocants in infants with cochlear implants. 61
32037936 2020
32
CRISPR/Cas9: targeted genome editing for the treatment of hereditary hearing loss. 61
31912450 2020
33
Systematic Review of Pathogenic GJB2 Variants in the Latino Population. 61
31834214 2020
34
The Atoh1 expression levels are correlated with the arrangement, ciliary morphology, and electrophysiological characteristics of ectopic hair cell-like cells. 61
31945449 2020
35
Results in caloric test, video head impulse test and inner ear MRI in patients with Ménière's disease. 61
31272843 2020
36
Genetics of syndromic ocular coloboma: CHARGE and COACH syndromes. 61
32032630 2020
37
CDK5RAP2 primary microcephaly is associated with hypothalamic, retinal and cochlear developmental defects. 61
32015000 2020
38
Cochlear Implantation From the Perspective of Genetic Background. 61
32027099 2020
39
Health-related quality of life in South African children who use cochlear implants. 61
31516047 2020
40
Comprehensive genetic testing of Chinese SNHL patients and variants interpretation using ACMG guidelines and ethnically matched normal controls. 61
31541171 2020
41
A possible mechanism of the formation of endolymphatic hydrops and its associated inner ear disorders. 61
31623941 2020
42
Impact of Underlying Diagnosis on Speech and Quality of Life Outcomes After Cochlear Implantation for Single-Sided Deafness. 61
32032297 2020
43
The emerging role of hearing loss rehabilitation in patients with vestibular schwannoma treated with Gamma Knife radiosurgery: literature review. 61
32030543 2020
44
Founder effect of Fabry disease due to p.F113L mutation: Clinical profile of a late-onset phenotype. 61
31519519 2020
45
Genetic identification and molecular modeling characterization of a novel POU3F4 variant in two Italian deaf brothers. 61
31786483 2020
46
Susac's syndrome: an update. 61
32029433 2020
47
Sudden deafness and tuning fork tests: towards optimal utilisation. 61
31444233 2020
48
Cross-modal plasticity in adult single-sided deafness revealed by alpha band resting-state functional connectivity. 61
31756519 2020
49
Multifactorial positive influence of cochlear implantation on patients with single-sided deafness. 61
31006873 2020
50
Pou4f3 gene mutation promotes autophagy and apoptosis of cochlear hair cells in cisplatin-induced deafness mice. 61
31830441 2020

Variations for Branchiootic Syndrome 1

ClinVar genetic disease variations for Branchiootic Syndrome 1:

6 (show all 50) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC26A4 NM_000441.2(SLC26A4):c.42del (p.Glu15fs)deletion Pathogenic 560909 rs1562817224 7:107302125-107302125 7:107661680-107661680
2 GPSM2 NM_013296.5(GPSM2):c.138C>A (p.Phe46Leu)SNV Pathogenic 560890 rs755804651 1:109439567-109439567 1:108896945-108896945
3 CLCNKA NM_004070.4(CLCNKA):c.1985G>T (p.Gly662Val)SNV Pathogenic 560887 rs1557458426 1:16359720-16359720 1:16033225-16033225
4 USH2A NM_206933.3(USH2A):c.3661C>T (p.Gln1221Ter)SNV Pathogenic 560919 rs767797828 1:216373119-216373119 1:216199777-216199777
5 PJVK NM_001042702.4(PJVK):c.158C>G (p.Ser53Ter)SNV Pathogenic 560903 rs538027448 2:179318294-179318294 2:178453567-178453567
6 PJVK NM_001042702.4(PJVK):c.162_172del (p.Pro55fs)deletion Pathogenic 560904 rs1559366084 2:179318296-179318306 2:178453569-178453579
7 PJVK NM_001042702.4(PJVK):c.406C>T (p.Arg136Ter)SNV Pathogenic 560905 rs367688416 2:179319253-179319253 2:178454526-178454526
8 OTOF NM_194248.3(OTOF):c.3376dup (p.Ile1126fs)duplication Pathogenic 560900 rs1558480402 2:26696890-26696891 2:26474022-26474023
9 OTOF NM_194248.3(OTOF):c.1550T>C (p.Leu517Pro)SNV Pathogenic 560901 rs1558490542 2:26705303-26705303 2:26482435-26482435
10 ILDR1 NM_001199799.2(ILDR1):c.1161_1162del (p.Trp388fs)deletion Pathogenic 560892 rs1559870857 3:121712434-121712435 3:121993587-121993588
11 GRXCR1 NM_001080476.2(GRXCR1):c.655G>A (p.Glu219Lys)SNV Pathogenic 560891 rs1560690591 4:43022398-43022398 4:43020381-43020381
12 MARVELD2 NM_001038603.3(MARVELD2):c.1224dup (p.Val409fs)duplication Pathogenic 560893 rs1561299289 5:68728393-68728394 5:69432566-69432567
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 EYA1 EYA1, 2-BP INS, 870GTinsertion Pathogenic 7931
26 EYA1 EYA1, 8-BP DEL, NT297deletion Pathogenic 7932
27 EYA1 NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)SNV Pathogenic 7943 rs121909202 8:72156897-72156897 8:71244662-71244662
28 EYA1 NM_000503.6(EYA1):c.1501_1507del (p.Thr501fs)deletion Pathogenic 7944 rs606231356 8:72127712-72127718 8:71215477-71215483
29 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
30 LOXHD1 NM_144612.6(LOXHD1):c.746G>A (p.Trp249Ter)SNV Pathogenic 448957 rs1248889536 18:44190752-44190752 18:46610789-46610789
31 MYO7A NM_000260.4(MYO7A):c.3364C>A (p.Leu1122Ile)SNV Pathogenic 560897 rs192378817 11:76894191-76894191 11:77183146-77183146
32 MYO7A NM_000260.4(MYO7A):c.3590T>C (p.Leu1197Pro)SNV Pathogenic 560899 rs1565430886 11:76900475-76900475 11:77189430-77189430
33 MYO7A NM_000260.4(MYO7A):c.5326+3A>GSNV Pathogenic 560895 rs1565469959 11:76914265-76914265 11:77203220-77203220
34 MYO7A NM_000260.4(MYO7A):c.5345G>C (p.Gly1782Ala)SNV Pathogenic 560898 rs751242455 11:76915139-76915139 11:77204094-77204094
35 MYO7A NM_000260.4(MYO7A):c.5522C>G (p.Thr1841Arg)SNV Pathogenic 560894 rs746667217 11:76916548-76916548 11:77205503-77205503
36 EPS8 NM_004447.6(EPS8):c.205-8A>GSNV Pathogenic 560888 rs180899529 12:15822767-15822767 12:15669833-15669833
37 PTPRQ NM_001145026.2(PTPRQ):c.5156_5157AT[1] (p.Ile1720fs)short repeat Pathogenic 560907 rs1565819402 12:81007608-81007609 12:80613829-80613830
38 PTPRQ NM_001145026.2(PTPRQ):c.6739-1G>ASNV Pathogenic 560906 rs1565855932 12:81072380-81072380 12:80678601-80678601
39 GJB2 NM_004004.6(GJB2):c.355G>T (p.Glu119Ter)SNV Pathogenic 560889 rs150529554 13:20763366-20763366 13:20189227-20189227
40 USH1G NM_173477.5(USH1G):c.812del (p.Pro271fs)deletion Pathogenic 560917 rs1567939793 17:72916119-72916119 17:74920024-74920024
41 USH1G NM_173477.5(USH1G):c.511G>T (p.Glu171Ter)SNV Pathogenic 560918 rs201866631 17:72916420-72916420 17:74920325-74920325
42 EYA1 NM_000503.6(EYA1):c.1361-1G>ASNV Pathogenic 807413 8:72127964-72127964 8:71215729-71215729
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 EPS8 NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu)SNV Conflicting interpretations of pathogenicity 252629 rs139258361 12:15803861-15803861 12:15650927-15650927
46 TRIOBP NM_001039141.3(TRIOBP):c.4031G>A (p.Arg1344Gln)SNV Conflicting interpretations of pathogenicity 165587 rs34066624 22:38129388-38129388 22:37733381-37733381
47 SIX1 NM_005982.4(SIX1):c.386A>C (p.Tyr129Ser)SNV Conflicting interpretations of pathogenicity 666609 14:61115522-61115522 14:60648804-60648804
48 EYA1 NM_000503.6(EYA1):c.415T>C (p.Tyr139His)SNV Uncertain significance 689446 rs763614581 8:72233972-72233972 8:71321737-71321737
49 MYO7A NM_000260.4(MYO7A):c.4505A>G (p.Asp1502Gly)SNV Uncertain significance 517448 rs757460257 11:76909603-76909603 11:77198558-77198558
50 MYO7A NM_000260.4(MYO7A):c.247C>A (p.Arg83Ser)SNV Uncertain significance 560896 rs781790246 11:76858958-76858958 11:77147912-77147912

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

Sources for Branchiootic Syndrome 1

3 CDC
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