BOS3
MCID: BRN128
MIFTS: 29

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 56 73 29 6 71
Bo Syndrome 3 56 73
Bos3 56 73
Branchio-Otic Dysplasia 3 73
Branchio-Otic Syndrome 3 73

Characteristics:

OMIM:

56
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 56 608389
MeSH 43 D003638
MedGen 41 C1842124
UMLS 71 C1842124

Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : 73 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, skin and lung, 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 9.4 SIX1 MIR9718
2 deafness, autosomal dominant 23 9.2 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:

56
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

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, Skin, Lung

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 56 61
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. 56 6
17637804 2007
3
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. 6 56
12843324 2003
4
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 56
10762556 2000
5
Branchiootorenal Spectrum Disorder 6
20301554 1999
6
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 61
30905259 2019
7
Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. 61
28186707 2017
8
De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. 61
25130554 2014
9
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. 61
18666230 2008
10
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 51) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SIX1 NM_005982.4(SIX1):c.386A>G (p.Tyr129Cys)SNV Pathogenic 8308 rs104894478 14:61115522-61115522 14:60648804-60648804
2 SIX1 NM_005982.4(SIX1):c.328C>T (p.Arg110Trp)SNV Pathogenic 8309 rs80356459 14:61115580-61115580 14:60648862-60648862
3 SIX1 NM_005982.4(SIX1):c.397_399del (p.Glu133del)deletion Pathogenic 8310 rs80356460 14:61115509-61115511 14:60648791-60648793
4 SIX1 NM_005982.4(SIX1):c.364T>A (p.Trp122Arg)SNV Pathogenic 8311 rs121909770 14:61115544-61115544 14:60648826-60648826
5 SIX1 NM_005982.4(SIX1):c.560+1G>CSNV Likely pathogenic 189222 rs863223330 14:61115347-61115347 14:60648629-60648629
6 SIX1 NM_005982.4(SIX1):c.460A>T (p.Lys154Ter)SNV Likely pathogenic 417916 rs1060499595 14:61115448-61115448 14:60648730-60648730
7 SIX1 NM_005982.4(SIX1):c.746C>T (p.Pro249Leu)SNV Conflicting interpretations of pathogenicity 884094 14:61113110-61113110 14:60646392-60646392
8 SIX1 NM_005982.4(SIX1):c.330G>A (p.Arg110=)SNV Conflicting interpretations of pathogenicity 497460 rs73309461 14:61115578-61115578 14:60648860-60648860
9 SIX1 NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr)SNV Conflicting interpretations of pathogenicity 633689 rs144481204 14:61113177-61113177 14:60646459-60646459
10 SIX1 NM_005982.4(SIX1):c.*1251A>GSNV Uncertain significance 882088 14:61111750-61111750 14:60645032-60645032
11 SIX1 NM_005982.4(SIX1):c.*1232T>CSNV Uncertain significance 882089 14:61111769-61111769 14:60645051-60645051
12 SIX1 NM_005982.4(SIX1):c.*1080A>TSNV Uncertain significance 882090 14:61111921-61111921 14:60645203-60645203
13 SIX1 NM_005982.4(SIX1):c.*858C>TSNV Uncertain significance 883235 14:61112143-61112143 14:60645425-60645425
14 SIX1 NM_005982.4(SIX1):c.*766T>ASNV Uncertain significance 884035 14:61112235-61112235 14:60645517-60645517
15 SIX1 NM_005982.4(SIX1):c.*688C>TSNV Uncertain significance 880739 14:61112313-61112313 14:60645595-60645595
16 SIX1 NM_005982.4(SIX1):c.*266C>ASNV Uncertain significance 883288 14:61112735-61112735 14:60646017-60646017
17 SIX1 NM_005982.4(SIX1):c.*249A>GSNV Uncertain significance 883289 14:61112752-61112752 14:60646034-60646034
18 SIX1 NM_005982.4(SIX1):c.*140C>TSNV Uncertain significance 883290 14:61112861-61112861 14:60646143-60646143
19 SIX1 NM_005982.4(SIX1):c.681C>A (p.Asp227Glu)SNV Uncertain significance 884095 14:61113175-61113175 14:60646457-60646457
20 SIX1 NM_005982.4(SIX1):c.495C>T (p.Thr165=)SNV Uncertain significance 880804 14:61115413-61115413 14:60648695-60648695
21 SIX1 NM_005982.4(SIX1):c.191G>A (p.Arg64His)SNV Uncertain significance 444331 rs1051653507 14:61115717-61115717 14:60648999-60648999
22 SIX1 NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)SNV Uncertain significance 466173 rs540778343 14:61113212-61113212 14:60646494-60646494
23 SIX1 NM_005982.4(SIX1):c.*161C>ASNV Uncertain significance 313463 rs886050571 14:61112840-61112840 14:60646122-60646122
24 SIX1 NM_005982.4(SIX1):c.*755T>GSNV Uncertain significance 313452 rs868568764 14:61112246-61112246 14:60645528-60645528
25 SIX1 NM_005982.4(SIX1):c.-213C>GSNV Uncertain significance 313474 rs771815597 14:61116120-61116120 14:60649402-60649402
26 SIX1 NM_005982.4(SIX1):c.-161G>CSNV Uncertain significance 313471 rs886050573 14:61116068-61116068 14:60649350-60649350
27 SIX1 NM_005982.4(SIX1):c.-185T>CSNV Uncertain significance 313473 rs745791461 14:61116092-61116092 14:60649374-60649374
28 SIX1 NM_005982.4(SIX1):c.*736T>GSNV Uncertain significance 313453 rs768828257 14:61112265-61112265 14:60645547-60645547
29 SIX1 NM_005982.4(SIX1):c.822C>T (p.Pro274=)SNV Uncertain significance 313464 rs368353344 14:61113034-61113034 14:60646316-60646316
30 SIX1 NM_005982.4(SIX1):c.-84C>GSNV Uncertain significance 313468 rs886050572 14:61115991-61115991 14:60649273-60649273
31 SIX1 NM_005982.4(SIX1):c.*1001T>CSNV Uncertain significance 313447 rs886050568 14:61112000-61112000 14:60645282-60645282
32 SIX1 NM_005982.4(SIX1):c.*371A>GSNV Uncertain significance 313458 rs538935374 14:61112630-61112630 14:60645912-60645912
33 SIX1 NM_005982.4(SIX1):c.-213C>TSNV Uncertain significance 884151 14:61116120-61116120 14:60649402-60649402
34 SIX1 NM_005982.4(SIX1):c.*767A>TSNV Likely benign 313449 rs574976629 14:61112234-61112234 14:60645516-60645516
35 SIX1 NM_005982.4(SIX1):c.474C>T (p.Ala158=)SNV Likely benign 466172 rs199743522 14:61115434-61115434 14:60648716-60648716
36 SIX1 NM_005982.4(SIX1):c.-24C>TSNV Benign/Likely benign 882199 14:61115931-61115931 14:60649213-60649213
37 SIX1 NM_005982.4(SIX1):c.-14G>TSNV Benign/Likely benign 313467 rs374228886 14:61115921-61115921 14:60649203-60649203
38 SIX1 NM_005982.4(SIX1):c.-137C>TSNV Benign/Likely benign 313470 rs139621918 14:61116044-61116044 14:60649326-60649326
39 SIX1 NM_005982.4(SIX1):c.-184A>CSNV Benign/Likely benign 313472 rs187402923 14:61116091-61116091 14:60649373-60649373
40 SIX1 NM_005982.4(SIX1):c.162G>A (p.Ala54=)SNV Benign/Likely benign 227075 rs150550985 14:61115746-61115746 14:60649028-60649028
41 SIX1 NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)SNV Benign/Likely benign 313465 rs142301715 14:61113278-61113278 14:60646560-60646560
42 SIX1 NM_005982.4(SIX1):c.180C>G (p.Arg60=)SNV Benign/Likely benign 313466 rs781519092 14:61115728-61115728 14:60649010-60649010
43 SIX1 NM_005982.4(SIX1):c.*443A>GSNV Benign/Likely benign 313456 rs186530769 14:61112558-61112558 14:60645840-60645840
44 SIX1 NM_005982.4(SIX1):c.*1079T>ASNV Benign/Likely benign 313444 rs559116477 14:61111922-61111922 14:60645204-60645204
45 SIX1 NM_005982.4(SIX1):c.*1044G>TSNV Benign/Likely benign 313445 rs3742637 14:61111957-61111957 14:60645239-60645239
46 SIX1 NM_005982.4(SIX1):c.*334C>GSNV Benign 313459 rs10144415 14:61112667-61112667 14:60645949-60645949
47 SIX1 NM_005982.4(SIX1):c.*297T>GSNV Benign 313460 rs147081368 14:61112704-61112704 14:60645986-60645986
48 SIX1 NM_005982.4(SIX1):c.*1496C>TSNV Benign 313442 rs61993831 14:61111505-61111505 14:60644787-60644787
49 SIX1 NM_005982.4(SIX1):c.-121C>GSNV Benign 313469 rs375002099 14:61116028-61116028 14:60649310-60649310
50 SIX1 NM_005982.4(SIX1):c.*404A>GSNV Benign 313457 rs76116881 14:61112597-61112597 14:60645879-60645879

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

73
# 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
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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