BOS3
MCID: BRN128
MIFTS: 25

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 74 29 6 72
Bo Syndrome 3 57 74
Bos3 57 74
Branchio-Otic Dysplasia 3 74
Branchio-Otic Syndrome 3 74

Characteristics:

OMIM:

57
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:

32
branchiootic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 608389
MeSH 44 D003638
MedGen 42 C1842124
UMLS 72 C1842124

Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : 74 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). 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

Symptoms & Phenotypes for Branchiootic Syndrome 3

Human phenotypes related to Branchiootic Syndrome 3:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 32 HP:0000407
2 preauricular skin tag 32 HP:0000384
3 branchial cyst 32 HP:0009796
4 preauricular pit 32 HP:0004467
5 commissural lip pit 32 HP:0002710
6 lacrimal duct stenosis 32 HP:0007678

Symptoms via clinical synopsis from OMIM:

57
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

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:

41
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. 38 8 71
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. 8 71
17637804 2007
3
A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. 8 71
12843324 2003
4
Genomewide search and genetic localization of a second gene associated with autosomal dominant branchio-oto-renal syndrome: clinical and genetic implications. 8
10762556 2000
5
Branchiootorenal Spectrum Disorder 71
20301554 1999
6
Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. 38
30905259 2019
7
Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. 38
28186707 2017
8
De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. 38
25130554 2014
9
Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. 38
18666230 2008
10
The BOS loci of Arabidopsis are required for resistance to Botrytis cinerea infection. 38
15500471 2004

Variations for Branchiootic Syndrome 3

ClinVar genetic disease variations for Branchiootic Syndrome 3:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SIX1 NM_005982.4(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 14:61115522-61115522 14:60648804-60648804
2 SIX1 NM_005982.4(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 14:61115580-61115580 14:60648862-60648862
3 SIX1 NM_005982.4(SIX1): c.397_399del (p.Glu133del) deletion Pathogenic rs80356460 14:61115509-61115511 14:60648791-60648793
4 SIX1 NM_005982.4(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 14:61115544-61115544 14:60648826-60648826
5 SIX1 NM_005982.4(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 14:61115347-61115347 14:60648629-60648629
6 SIX1 NM_005982.4(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 14:61115448-61115448 14:60648730-60648730
7 SIX1 NM_005982.4(SIX1): c.191G> A (p.Arg64His) single nucleotide variant Uncertain significance rs1051653507 14:61115717-61115717 14:60648999-60648999
8 SIX1 NM_005982.4(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 14:61113212-61113212 14:60646494-60646494
9 SIX1 NM_005982.4(SIX1): c.474C> T (p.Ala158=) single nucleotide variant Likely benign rs199743522 14:61115434-61115434 14:60648716-60648716

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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