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

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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, 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 pit

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

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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 pit ³¹	HP:0004467
3	preauricular skin tag ³¹	HP:0000384
4	branchial cyst ³¹	HP:0009796
5	commissural lip pit ³¹	HP:0002710
6	lacrimal duct stenosis ³¹	HP:0007678

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

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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. ⁶¹ ⁵⁶ ⁶	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. ⁵⁶ 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. 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	1318.3	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ GeneCards inferred via : Disorders Variants (show sections)	15141091 17637804 20301554 (more) 12843324

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Variations for Branchiootic Syndrome 3

ClinVar genetic disease variations for Branchiootic Syndrome 3:

⁶ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	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.460A>T (p.Lys154Ter)	SNV	Likely pathogenic	417916	rs1060499595	14:61115448-61115448	14:60648730-60648730
6	SIX1	NM_005982.4(SIX1):c.560+1G>C	SNV	Likely pathogenic	189222	rs863223330	14:61115347-61115347	14:60648629-60648629
7	SIX1	NM_005982.4(SIX1):c.191G>A (p.Arg64His)	SNV	Uncertain significance	444331	rs1051653507	14:61115717-61115717	14:60648999-60648999
8	SIX1	NM_005982.4(SIX1):c.644G>T (p.Ser215Ile)	SNV	Uncertain significance	466173	rs540778343	14:61113212-61113212	14:60646494-60646494
9	SIX1	NM_005982.4(SIX1):c.474C>T (p.Ala158=)	SNV	Likely benign	466172	rs199743522	14:61115434-61115434	14:60648716-60648716

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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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:

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