BOS3
MCID: BRN128
MIFTS: 27

Branchiootic Syndrome 3 (BOS3)

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

Aliases & Classifications for Branchiootic Syndrome 3

MalaCards integrated aliases for Branchiootic Syndrome 3:

Name: Branchiootic Syndrome 3 58 76 30 6 74
Bo Syndrome 3 58 76
Bos3 58 76
Branchio-Otic Dysplasia 3 76
Branchio-Otic Syndrome 3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
age of onset varies ranging from 3 weeks to 22 years
hearing loss may vary in severity and range between ears


HPO:

33
branchiootic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : 76 Branchiootic syndrome 3: 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 3, is also known as bo syndrome 3. An important gene associated with Branchiootic Syndrome 3 is SIX1 (SIX Homeobox 1). The drugs Sirolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and bone marrow, and related phenotypes are sensorineural hearing impairment and preauricular skin tag

Description from OMIM: 608389

Related Diseases for Branchiootic Syndrome 3

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Symptoms & Phenotypes for Branchiootic Syndrome 3

Human phenotypes related to Branchiootic Syndrome 3:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 33 HP:0000407
2 preauricular skin tag 33 HP:0000384
3 branchial cyst 33 HP:0009796
4 preauricular pit 33 HP:0004467
5 commissural lip pit 33 HP:0002710
6 lacrimal duct stenosis 33 HP:0007678

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
lacrimal duct stenosis
mondini dysplasia
widened semicircular canals

Head And Neck Neck:
branchial cysts

Head And Neck Ears:
preauricular tags
preauricular pits
hearing loss, progressive, mild to severe
branchial arch defects
preauricular fistula

Genitourinary Kidneys:
no renal findings

Clinical features from OMIM:

608389

Drugs & Therapeutics for Branchiootic Syndrome 3

Drugs for Branchiootic Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sirolimus Approved, Investigational Phase 3 53123-88-9 46835353 5284616 6436030
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Everolimus Approved Phase 3 159351-69-6 70789204 6442177
4 Anti-Infective Agents Phase 3
5 Anti-Bacterial Agents Phase 3
6 Immunosuppressive Agents Phase 3,Phase 1,Phase 2
7 Antifungal Agents Phase 3
8 Immunologic Factors Phase 3,Phase 1,Phase 2
9 Antibiotics, Antitubercular Phase 3
10
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
11
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 6473866 445643 439492
12
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
13
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
14
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
15
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
16
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
17 Antineoplastic Agents, Alkylating Phase 1, Phase 2
18 Antineoplastic Agents, Immunological Phase 1, Phase 2
19 Alkylating Agents Phase 1, Phase 2
20 Antirheumatic Agents Phase 1, Phase 2
21 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy Regarding Renal Function of Everolimus in Combination With Specific Standard Immunosuppressive Regimen Lung Transplant Recipients Completed NCT01404325 Phase 3 standard therapy;Everolimus
2 Efficacy of FOLFOX Versus FOLFOX Plus Aflibercept in K-ras Mutant Patients With Resectable Liver Metastases Withdrawn NCT01646554 Phase 2, Phase 3 Modified FOLFOX6
3 Lung and Bone Marrow Transplantation for Lung and Bone Marrow Failure Recruiting NCT03500731 Phase 1, Phase 2 Rituximab;Alemtuzumab;Fludarabine;Thiotepa;G-CSF;Hydroxyurea

Search NIH Clinical Center for Branchiootic Syndrome 3

Genetic Tests for Branchiootic Syndrome 3

Genetic tests related to Branchiootic Syndrome 3:

# Genetic test Affiliating Genes
1 Branchiootic Syndrome 3 30 SIX1

Anatomical Context for Branchiootic Syndrome 3

MalaCards organs/tissues related to Branchiootic Syndrome 3:

42
Lung, Bone, Bone Marrow, Skin, Liver

Publications for Branchiootic Syndrome 3

Articles related to Branchiootic Syndrome 3:

# Title Authors Year
1
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. ( 17637804 )
2007
2
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. ( 15141091 )
2004
3
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. ( 12843324 )
2003

Variations for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot genetic disease variations for Branchiootic Syndrome 3:

76
# Symbol AA change Variation ID SNP ID
1 SIX1 p.Arg110Trp VAR_031024 rs80356459
2 SIX1 p.Tyr129Cys VAR_031025 rs104894478
3 SIX1 p.Val17Glu VAR_064948 rs397515562
4 SIX1 p.His73Pro VAR_064949
5 SIX1 p.Val106Gly VAR_064950 rs397515560
6 SIX1 p.Arg110Gln VAR_064951 rs106479430
7 SIX1 p.Arg112Cys VAR_064952 rs397515561
8 SIX1 p.Trp122Arg VAR_064953 rs121909770

ClinVar genetic disease variations for Branchiootic Syndrome 3:

6 (show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
2 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh38 Chromosome 14, 60648804: 60648804
3 SIX1 NM_005982.3(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh37 Chromosome 14, 61115580: 61115580
4 SIX1 NM_005982.3(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh38 Chromosome 14, 60648862: 60648862
5 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh37 Chromosome 14, 61115509: 61115511
6 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh38 Chromosome 14, 60648791: 60648793
7 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh37 Chromosome 14, 61115544: 61115544
8 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh38 Chromosome 14, 60648826: 60648826
9 SIX1 NM_005982.3(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 GRCh37 Chromosome 14, 61115347: 61115347
10 SIX1 NM_005982.3(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 GRCh38 Chromosome 14, 60648629: 60648629
11 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh37 Chromosome 14, 61115448: 61115448
12 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh38 Chromosome 14, 60648730: 60648730
13 SIX1 NM_005982.3(SIX1): c.191G> A (p.Arg64His) single nucleotide variant Uncertain significance rs1051653507 GRCh37 Chromosome 14, 61115717: 61115717
14 SIX1 NM_005982.3(SIX1): c.191G> A (p.Arg64His) single nucleotide variant Uncertain significance rs1051653507 GRCh38 Chromosome 14, 60648999: 60648999
15 SIX1 NM_005982.3(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 GRCh38 Chromosome 14, 60646494: 60646494
16 SIX1 NM_005982.3(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 GRCh37 Chromosome 14, 61113212: 61113212
17 SIX1 NM_005982.3(SIX1): c.474C> T (p.Ala158=) single nucleotide variant Likely benign rs199743522 GRCh37 Chromosome 14, 61115434: 61115434
18 SIX1 NM_005982.3(SIX1): c.474C> T (p.Ala158=) single nucleotide variant Likely benign rs199743522 GRCh38 Chromosome 14, 60648716: 60648716

Expression for Branchiootic Syndrome 3

Search GEO for disease gene expression data for Branchiootic Syndrome 3.

Pathways for Branchiootic Syndrome 3

GO Terms for Branchiootic Syndrome 3

Sources for Branchiootic Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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