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 57 72 29 6 70
Bo Syndrome 3 57 72
Bos3 57 72
Branchio-Otic Dysplasia 3 72
Branchio-Otic Syndrome 3 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
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:

31
branchiootic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 608389
MeSH 44 D003638
MedGen 41 C1842124
UMLS 70 C1842124

Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : 72 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, also known as bo syndrome 3, is related to branchiootic syndrome and deafness, autosomal dominant 23. An important gene associated with Branchiootic Syndrome 3 is SIX1 (SIX Homeobox 1). Affiliated tissues include liver, and related phenotypes are sensorineural hearing impairment and preauricular skin tag

More information from OMIM: 608389

Related Diseases for Branchiootic Syndrome 3

Diseases in the Branchiootic Syndrome family:

Branchiootic Syndrome 2 Branchiootic Syndrome 1
Branchiootic Syndrome 3

Diseases related to Branchiootic Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 9.6 SIX1 MIR9718
2 deafness, autosomal dominant 23 9.5 SIX1 MIR9718

Symptoms & Phenotypes for Branchiootic Syndrome 3

Human phenotypes related to Branchiootic Syndrome 3:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 HP:0000407
2 preauricular skin tag 31 HP:0000384
3 branchial cyst 31 HP:0009796
4 preauricular pit 31 HP:0004467
5 lacrimal duct stenosis 31 HP:0007678
6 commissural lip pit 31 HP:0002710

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
lacrimal duct stenosis
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
more
Genitourinary Kidneys:
no renal findings

Clinical features from OMIM®:

608389 (Updated 20-May-2021)

Drugs & Therapeutics for Branchiootic Syndrome 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BOS3: Randomized Phase II/III Trial Evaluating the Efficacy of FOLFOX Alone Versus FOLFOX Plus Aflibercept in K-ras Mutant as Perioperative Treatment in Patients With Resectable Liver Metastases From Colorectal Cancer. Withdrawn NCT01646554 Phase 2, Phase 3 Modified FOLFOX6

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 29 SIX1

Anatomical Context for Branchiootic Syndrome 3

MalaCards organs/tissues related to Branchiootic Syndrome 3:

40
Liver

Publications for Branchiootic Syndrome 3

Articles related to Branchiootic Syndrome 3:

# Title Authors PMID Year
1
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. 6 61 57
15141091 2004
2
Branchio-oto-renal syndrome: detection of EYA1 and SIX1 mutations in five out of six Danish families by combining linkage, MLPA and sequencing analyses. 6 57
17637804 2007
3
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. 57 6
12843324 2003
4
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 57
10762556 2000
5
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
6
Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. 61
28186707 2017
7
De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. 61
25130554 2014
8
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. 61
18666230 2008
9
The BOS loci of Arabidopsis are required for resistance to Botrytis cinerea infection. 61
15500471 2004

Variations for Branchiootic Syndrome 3

ClinVar genetic disease variations for Branchiootic Syndrome 3:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
2 SIX1 NM_005982.4(SIX1):c.328C>T (p.Arg110Trp) SNV Pathogenic 8309 rs80356459 GRCh37: 14:61115580-61115580
GRCh38: 14:60648862-60648862
3 SIX1 NM_005982.4(SIX1):c.364T>A (p.Trp122Arg) SNV Pathogenic 8311 rs121909770 GRCh37: 14:61115544-61115544
GRCh38: 14:60648826-60648826
4 SIX1 NM_005982.4(SIX1):c.397_399del (p.Glu133del) Deletion Pathogenic 8310 rs80356460 GRCh37: 14:61115509-61115511
GRCh38: 14:60648791-60648793
5 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys) SNV Pathogenic 8308 rs104894478 GRCh37: 14:61115522-61115522
GRCh38: 14:60648804-60648804
6 SIX1 NM_005982.4(SIX1):c.460A>T (p.Lys154Ter) SNV Likely pathogenic 417916 rs1060499595 GRCh37: 14:61115448-61115448
GRCh38: 14:60648730-60648730
7 SIX1 NM_005982.4(SIX1):c.560+1G>C SNV Likely pathogenic 189222 rs863223330 GRCh37: 14:61115347-61115347
GRCh38: 14:60648629-60648629
8 SIX1 NM_005982.4(SIX1):c.416T>G (p.Leu139Arg) SNV Likely pathogenic 974692 GRCh37: 14:61115492-61115492
GRCh38: 14:60648774-60648774
9 SIX1 NM_005982.4(SIX1):c.1A>C (p.Met1Leu) SNV Uncertain significance 983026 GRCh37: 14:61115907-61115907
GRCh38: 14:60649189-60649189
10 overlap with 3 genes NC_000014.8:g.(?_60976117)_(61191013_?)dup Duplication Uncertain significance 999901 GRCh37: 14:60976117-61191013
GRCh38:
11 SIX1 NM_005982.4(SIX1):c.620A>C (p.Glu207Ala) SNV Uncertain significance 1030044 GRCh37: 14:61113236-61113236
GRCh38: 14:60646518-60646518
12 SIX1 NM_005982.4(SIX1):c.191G>A (p.Arg64His) SNV Uncertain significance 444331 rs1051653507 GRCh37: 14:61115717-61115717
GRCh38: 14:60648999-60648999
13 SIX1 NM_005982.4(SIX1):c.*266C>A SNV Uncertain significance 883288 GRCh37: 14:61112735-61112735
GRCh38: 14:60646017-60646017
14 SIX1 NM_005982.4(SIX1):c.*249A>G SNV Uncertain significance 883289 GRCh37: 14:61112752-61112752
GRCh38: 14:60646034-60646034
15 SIX1 NM_005982.4(SIX1):c.*140C>T SNV Uncertain significance 883290 GRCh37: 14:61112861-61112861
GRCh38: 14:60646143-60646143
16 SIX1 NM_005982.4(SIX1):c.*858C>T SNV Uncertain significance 883235 GRCh37: 14:61112143-61112143
GRCh38: 14:60645425-60645425
17 SIX1 NM_005982.4(SIX1):c.*766T>A SNV Uncertain significance 884035 GRCh37: 14:61112235-61112235
GRCh38: 14:60645517-60645517
18 SIX1 , MIR9718 NM_005982.4(SIX1):c.495C>T (p.Thr165=) SNV Uncertain significance 880804 GRCh37: 14:61115413-61115413
GRCh38: 14:60648695-60648695
19 SIX1 NM_005982.4(SIX1):c.681C>A (p.Asp227Glu) SNV Uncertain significance 884095 GRCh37: 14:61113175-61113175
GRCh38: 14:60646457-60646457
20 SIX1 NM_005982.4(SIX1):c.-213C>T SNV Uncertain significance 884151 GRCh37: 14:61116120-61116120
GRCh38: 14:60649402-60649402
21 SIX1 NM_005982.4(SIX1):c.-84C>G SNV Uncertain significance 313468 rs886050572 GRCh37: 14:61115991-61115991
GRCh38: 14:60649273-60649273
22 SIX1 NM_005982.4(SIX1):c.*755T>G SNV Uncertain significance 313452 rs868568764 GRCh37: 14:61112246-61112246
GRCh38: 14:60645528-60645528
23 SIX1 NM_005982.4(SIX1):c.-185T>C SNV Uncertain significance 313473 rs745791461 GRCh37: 14:61116092-61116092
GRCh38: 14:60649374-60649374
24 SIX1 NM_005982.4(SIX1):c.-213C>G SNV Uncertain significance 313474 rs771815597 GRCh37: 14:61116120-61116120
GRCh38: 14:60649402-60649402
25 SIX1 NM_005982.4(SIX1):c.-161G>C SNV Uncertain significance 313471 rs886050573 GRCh37: 14:61116068-61116068
GRCh38: 14:60649350-60649350
26 SIX1 NM_005982.4(SIX1):c.*736T>G SNV Uncertain significance 313453 rs768828257 GRCh37: 14:61112265-61112265
GRCh38: 14:60645547-60645547
27 SIX1 NM_005982.4(SIX1):c.822C>T (p.Pro274=) SNV Uncertain significance 313464 rs368353344 GRCh37: 14:61113034-61113034
GRCh38: 14:60646316-60646316
28 SIX1 NM_005982.4(SIX1):c.*1001T>C SNV Uncertain significance 313447 rs886050568 GRCh37: 14:61112000-61112000
GRCh38: 14:60645282-60645282
29 SIX1 NM_005982.4(SIX1):c.644G>T (p.Ser215Ile) SNV Uncertain significance 466173 rs540778343 GRCh37: 14:61113212-61113212
GRCh38: 14:60646494-60646494
30 SIX1 NM_005982.4(SIX1):c.*161C>A SNV Uncertain significance 313463 rs886050571 GRCh37: 14:61112840-61112840
GRCh38: 14:60646122-60646122
31 SIX1 NM_005982.4(SIX1):c.*371A>G SNV Uncertain significance 313458 rs538935374 GRCh37: 14:61112630-61112630
GRCh38: 14:60645912-60645912
32 SIX1 NM_005982.4(SIX1):c.*688C>T SNV Uncertain significance 880739 GRCh37: 14:61112313-61112313
GRCh38: 14:60645595-60645595
33 SIX1 NM_005982.4(SIX1):c.*1251A>G SNV Uncertain significance 882088 GRCh37: 14:61111750-61111750
GRCh38: 14:60645032-60645032
34 SIX1 NM_005982.4(SIX1):c.*1232T>C SNV Uncertain significance 882089 GRCh37: 14:61111769-61111769
GRCh38: 14:60645051-60645051
35 SIX1 NM_005982.4(SIX1):c.*1080A>T SNV Uncertain significance 882090 GRCh37: 14:61111921-61111921
GRCh38: 14:60645203-60645203
36 SIX1 NM_005982.4(SIX1):c.*767A>T SNV Likely benign 313449 rs574976629 GRCh37: 14:61112234-61112234
GRCh38: 14:60645516-60645516
37 SIX1 NM_005982.4(SIX1):c.474C>T (p.Ala158=) SNV Likely benign 466172 rs199743522 GRCh37: 14:61115434-61115434
GRCh38: 14:60648716-60648716
38 SIX1 NM_005982.4(SIX1):c.746C>T (p.Pro249Leu) SNV Likely benign 884094 GRCh37: 14:61113110-61113110
GRCh38: 14:60646392-60646392
39 SIX1 NM_005982.4(SIX1):c.330G>A (p.Arg110=) SNV Benign 497460 rs73309461 GRCh37: 14:61115578-61115578
GRCh38: 14:60648860-60648860
40 SIX1 NM_005982.4(SIX1):c.*1496C>T SNV Benign 313442 rs61993831 GRCh37: 14:61111505-61111505
GRCh38: 14:60644787-60644787
41 SIX1 NM_005982.4(SIX1):c.*404A>G SNV Benign 313457 rs76116881 GRCh37: 14:61112597-61112597
GRCh38: 14:60645879-60645879
42 SIX1 NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) SNV Benign 313465 rs142301715 GRCh37: 14:61113278-61113278
GRCh38: 14:60646560-60646560
43 SIX1 NM_005982.4(SIX1):c.-137C>T SNV Benign 313470 rs139621918 GRCh37: 14:61116044-61116044
GRCh38: 14:60649326-60649326
44 SIX1 NM_005982.4(SIX1):c.-24C>T SNV Benign 882199 GRCh37: 14:61115931-61115931
GRCh38: 14:60649213-60649213
45 SIX1 NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) SNV Benign 633689 rs144481204 GRCh37: 14:61113177-61113177
GRCh38: 14:60646459-60646459
46 SIX1 NM_005982.4(SIX1):c.162G>A (p.Ala54=) SNV Benign 227075 rs150550985 GRCh37: 14:61115746-61115746
GRCh38: 14:60649028-60649028
47 SIX1 NM_005982.4(SIX1):c.180C>G (p.Arg60=) SNV Benign 313466 rs781519092 GRCh37: 14:61115728-61115728
GRCh38: 14:60649010-60649010
48 SIX1 NM_005982.4(SIX1):c.*297T>G SNV Benign 313460 rs147081368 GRCh37: 14:61112704-61112704
GRCh38: 14:60645986-60645986
49 SIX1 NM_005982.4(SIX1):c.*334C>G SNV Benign 313459 rs10144415 GRCh37: 14:61112667-61112667
GRCh38: 14:60645949-60645949
50 SIX1 NM_005982.4(SIX1):c.*1044G>T SNV Benign 313445 rs3742637 GRCh37: 14:61111957-61111957
GRCh38: 14:60645239-60645239

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

72
# 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

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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