Branchiootic Syndrome 3 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

BOS3 MCID: BRN128 MIFTS: 27	Branchiootic Syndrome 3 (BOS3) Categories: Ear diseases, Fetal diseases, Genetic diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Ear diseases Nephrological diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 608389

MeSH ⁴⁴ D003638

MedGen ⁴¹ C1842124

SNOMED-CT via HPO ⁶⁸ 1955003 204271000 204272007 more

UMLS ⁷⁰ C1842124

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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

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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

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Symptoms & Phenotypes for Branchiootic Syndrome 3

Human phenotypes related to Branchiootic Syndrome 3:

³¹ (show all 6)

#	Description	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)

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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

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Genetic Tests for Branchiootic Syndrome 3

Genetic tests related to Branchiootic Syndrome 3:

#	Genetic test	Affiliating Genes
1	Branchiootic Syndrome 3 ²⁹	SIX1

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Anatomical Context for Branchiootic Syndrome 3

MalaCards organs/tissues related to Branchiootic Syndrome 3:

⁴⁰

Liver

Sources

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	Ruf RG...Hildebrandt F	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	Sanggaard KM...Tranebjaerg L	17637804	2007
3	A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. ⁵⁷ ⁶	Ruf RG...Hildebrandt F	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	Kumar S...Kimberling WJ	10762556	2000
5	Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. ⁶¹	Liu Z...Jiang R	30905259	2019
6	Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. ⁶¹	Chambers DC...Hopkins PM	28186707	2017
7	De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. ⁶¹	Safavi S...Smith JD	25130554	2014
8	Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement. ⁶¹	Ou Z...Cheung SW	18666230	2008
9	The BOS loci of Arabidopsis are required for resistance to Botrytis cinerea infection. ⁶¹	Veronese P...Mengiste T	15500471	2004

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Genes for Branchiootic Syndrome 3

Genes related to Branchiootic Syndrome 3 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SIX1	SIX Homeobox 1	Protein Coding	1343.53	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷² Genetic Tests ²⁹ Likely pathogenic ⁶ GeneCards inferred via : Disorders Variants (show sections)	12843324 15141091
2	MIR9718	MicroRNA 9718	RNA Gene	7	GeneCards inferred via : Variants (show sections)

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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

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Expression for Branchiootic Syndrome 3

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

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Pathways for Branchiootic Syndrome 3

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GO Terms for Branchiootic Syndrome 3

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Sources for Branchiootic Syndrome 3

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

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¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia

Branchiootic Syndrome 3 (BOS3)

Aliases & Classifications for Branchiootic Syndrome 3

MalaCards integrated aliases for Branchiootic Syndrome 3:

Characteristics:

OMIM®:

HPO:

Classifications:

External Ids:

Summaries for Branchiootic Syndrome 3

Related Diseases for Branchiootic Syndrome 3

Diseases in the Branchiootic Syndrome family:

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

Symptoms & Phenotypes for Branchiootic Syndrome 3

Human phenotypes related to Branchiootic Syndrome 3:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Branchiootic Syndrome 3

Interventional clinical trials:

Genetic Tests for Branchiootic Syndrome 3

Genetic tests related to Branchiootic Syndrome 3:

Anatomical Context for Branchiootic Syndrome 3

MalaCards organs/tissues related to Branchiootic Syndrome 3:

Publications for Branchiootic Syndrome 3

Articles related to Branchiootic Syndrome 3:

Genes for Branchiootic Syndrome 3

Genes related to Branchiootic Syndrome 3 (1 elite genes):

Variations for Branchiootic Syndrome 3

ClinVar genetic disease variations for Branchiootic Syndrome 3:

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

Expression for Branchiootic Syndrome 3

Pathways for Branchiootic Syndrome 3

GO Terms for Branchiootic Syndrome 3

Sources for Branchiootic Syndrome 3