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

BOS3 MCID: BRN128 MIFTS: 29	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 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:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 608389

MeSH ⁴³ D003638

MedGen ⁴¹ C1842124

SNOMED-CT via HPO ⁶⁸ 1955003 204271000 204272007 more

UMLS ⁷¹ C1842124

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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

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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	9.4	SIX1 MIR9718
2	deafness, autosomal dominant 23	9.2	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:

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

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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, Skin, Lung

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 ⁵⁶ ⁶¹	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. ⁵⁶ ⁶	Sanggaard KM...Tranebjaerg L	17637804	2007
3	A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3. ⁶ ⁵⁶	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. ⁵⁶	Kumar S...Kimberling WJ	10762556	2000
5	Branchiootorenal Spectrum Disorder ⁶	Smith RJH	20301554	1999
6	Crucial and Overlapping Roles of Six1 and Six2 in Craniofacial Development. ⁶¹	Liu Z...Jiang R	30905259	2019
7	Mesenchymal Stromal Cell Therapy for Chronic Lung Allograft Dysfunction: Results of a First-in-Man Study. ⁶¹	Chambers DC...Hopkins PM	28186707	2017
8	De novo donor HLA-specific antibodies predict development of bronchiolitis obliterans syndrome after lung transplantation. ⁶¹	Safavi S...Smith JD	25130554	2014
9	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
10	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	PubmedIds
1	SIX1	SIX Homeobox 1	Protein Coding	1318.93	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15141091 20301554 17637804 (more) 12843324
2	MIR9718	MicroRNA 9718	RNA Gene	7.22	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 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>C	SNV	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>G	SNV	Uncertain significance	882088		14:61111750-61111750	14:60645032-60645032
11	SIX1	NM_005982.4(SIX1):c.*1232T>C	SNV	Uncertain significance	882089		14:61111769-61111769	14:60645051-60645051
12	SIX1	NM_005982.4(SIX1):c.*1080A>T	SNV	Uncertain significance	882090		14:61111921-61111921	14:60645203-60645203
13	SIX1	NM_005982.4(SIX1):c.*858C>T	SNV	Uncertain significance	883235		14:61112143-61112143	14:60645425-60645425
14	SIX1	NM_005982.4(SIX1):c.*766T>A	SNV	Uncertain significance	884035		14:61112235-61112235	14:60645517-60645517
15	SIX1	NM_005982.4(SIX1):c.*688C>T	SNV	Uncertain significance	880739		14:61112313-61112313	14:60645595-60645595
16	SIX1	NM_005982.4(SIX1):c.*266C>A	SNV	Uncertain significance	883288		14:61112735-61112735	14:60646017-60646017
17	SIX1	NM_005982.4(SIX1):c.*249A>G	SNV	Uncertain significance	883289		14:61112752-61112752	14:60646034-60646034
18	SIX1	NM_005982.4(SIX1):c.*140C>T	SNV	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>A	SNV	Uncertain significance	313463	rs886050571	14:61112840-61112840	14:60646122-60646122
24	SIX1	NM_005982.4(SIX1):c.*755T>G	SNV	Uncertain significance	313452	rs868568764	14:61112246-61112246	14:60645528-60645528
25	SIX1	NM_005982.4(SIX1):c.-213C>G	SNV	Uncertain significance	313474	rs771815597	14:61116120-61116120	14:60649402-60649402
26	SIX1	NM_005982.4(SIX1):c.-161G>C	SNV	Uncertain significance	313471	rs886050573	14:61116068-61116068	14:60649350-60649350
27	SIX1	NM_005982.4(SIX1):c.-185T>C	SNV	Uncertain significance	313473	rs745791461	14:61116092-61116092	14:60649374-60649374
28	SIX1	NM_005982.4(SIX1):c.*736T>G	SNV	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>G	SNV	Uncertain significance	313468	rs886050572	14:61115991-61115991	14:60649273-60649273
31	SIX1	NM_005982.4(SIX1):c.*1001T>C	SNV	Uncertain significance	313447	rs886050568	14:61112000-61112000	14:60645282-60645282
32	SIX1	NM_005982.4(SIX1):c.*371A>G	SNV	Uncertain significance	313458	rs538935374	14:61112630-61112630	14:60645912-60645912
33	SIX1	NM_005982.4(SIX1):c.-213C>T	SNV	Uncertain significance	884151		14:61116120-61116120	14:60649402-60649402
34	SIX1	NM_005982.4(SIX1):c.*767A>T	SNV	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>T	SNV	Benign/Likely benign	882199		14:61115931-61115931	14:60649213-60649213
37	SIX1	NM_005982.4(SIX1):c.-14G>T	SNV	Benign/Likely benign	313467	rs374228886	14:61115921-61115921	14:60649203-60649203
38	SIX1	NM_005982.4(SIX1):c.-137C>T	SNV	Benign/Likely benign	313470	rs139621918	14:61116044-61116044	14:60649326-60649326
39	SIX1	NM_005982.4(SIX1):c.-184A>C	SNV	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>G	SNV	Benign/Likely benign	313456	rs186530769	14:61112558-61112558	14:60645840-60645840
44	SIX1	NM_005982.4(SIX1):c.*1079T>A	SNV	Benign/Likely benign	313444	rs559116477	14:61111922-61111922	14:60645204-60645204
45	SIX1	NM_005982.4(SIX1):c.*1044G>T	SNV	Benign/Likely benign	313445	rs3742637	14:61111957-61111957	14:60645239-60645239
46	SIX1	NM_005982.4(SIX1):c.*334C>G	SNV	Benign	313459	rs10144415	14:61112667-61112667	14:60645949-60645949
47	SIX1	NM_005982.4(SIX1):c.*297T>G	SNV	Benign	313460	rs147081368	14:61112704-61112704	14:60645986-60645986
48	SIX1	NM_005982.4(SIX1):c.*1496C>T	SNV	Benign	313442	rs61993831	14:61111505-61111505	14:60644787-60644787
49	SIX1	NM_005982.4(SIX1):c.-121C>G	SNV	Benign	313469	rs375002099	14:61116028-61116028	14:60649310-60649310
50	SIX1	NM_005982.4(SIX1):c.*404A>G	SNV	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

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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

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²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

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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 MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵⁵ Novus Biologicals

⁵⁶ OMIM

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⁵⁸ Orphanet

⁵⁹ PathCards

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⁶¹ PubMed

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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