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 ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Bo Syndrome 3 ⁵⁸ ⁷⁶

Bos3 ⁵⁸ ⁷⁶

Branchio-Otic Dysplasia 3 ⁷⁶

Branchio-Otic Syndrome 3 ⁷⁶

Characteristics:

OMIM:

⁵⁸

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:

³³

branchiootic syndrome 3:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 608389

MeSH ⁴⁵ D003638

MedGen ⁴³ C1842124

SNOMED-CT via HPO ⁷⁰ 1955003 204271000 204272007 more

UMLS ⁷⁴ C1842124

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Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : ⁷⁶ 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). The drugs Miconazole and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and bone marrow, and related phenotypes are sensorineural hearing impairment and preauricular skin tag

Description 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:

³³ (show all 6)

#	Description	HPO Source Accession
1	sensorineural hearing impairment ³³	HP:0000407
2	preauricular skin tag ³³	HP:0000384
3	branchial cyst ³³	HP:0009796
4	preauricular pit ³³	HP:0004467
5	lacrimal duct stenosis ³³	HP:0007678
6	commissural lip pit ³³	HP:0002710

Symptoms via clinical synopsis from OMIM:

⁵⁸

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

Sources

Drugs & Therapeutics for Branchiootic Syndrome 3

Drugs for Branchiootic Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Miconazole

Approved, Investigational, Vet_approved

Phase 3

22916-47-8

4189

2

Sirolimus

Approved, Investigational

Phase 3

53123-88-9

46835353 6436030 5284616

3

Everolimus

Approved

Phase 3

159351-69-6

6442177 70789204

4

Anti-Bacterial Agents

Phase 3

5

Anti-Infective Agents

Phase 3

6

Immunosuppressive Agents

Phase 3,Phase 1,Phase 2

7

Immunologic Factors

Phase 3,Phase 1,Phase 2

8

Antibiotics, Antitubercular

Phase 3

9

Antifungal Agents

Phase 3

10

Lenograstim

Approved, Investigational

Phase 1, Phase 2

135968-09-1

11

Fludarabine

Approved

Phase 1, Phase 2,Phase 2

75607-67-9, 21679-14-1

30751

12

Tacrolimus

Approved, Investigational

Phase 1, Phase 2

104987-11-3

445643 439492 6473866

13

rituximab

Approved

Phase 1, Phase 2

174722-31-7

10201696

14

Hydroxyurea

Approved

Phase 1, Phase 2

127-07-1

3657

15

alemtuzumab

Approved, Investigational

Phase 1, Phase 2

216503-57-0

16

Thiotepa

Approved, Investigational

Phase 1, Phase 2

52-24-4

5453

17

Antineoplastic Agents, Alkylating

Phase 1, Phase 2

18

Antineoplastic Agents, Immunological

Phase 1, Phase 2

19

Alkylating Agents

Phase 1, Phase 2

20

Nucleic Acid Synthesis Inhibitors

Phase 1, Phase 2

21

Antirheumatic Agents

Phase 1, Phase 2

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Efficacy Regarding Renal Function of Everolimus in Combination With Specific Standard Immunosuppressive Regimen Lung Transplant Recipients	Completed	NCT01404325	Phase 3	standard therapy;Everolimus
2	Efficacy of FOLFOX Versus FOLFOX Plus Aflibercept in K-ras Mutant Patients With Resectable Liver Metastases	Withdrawn	NCT01646554	Phase 2, Phase 3	Modified FOLFOX6
3	Lung and Bone Marrow Transplantation for Lung and Bone Marrow Failure	Recruiting	NCT03500731	Phase 1, Phase 2	Rituximab;Alemtuzumab;Fludarabine;Thiotepa;G-CSF;Hydroxyurea

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 ³⁰	SIX1

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Anatomical Context for Branchiootic Syndrome 3

MalaCards organs/tissues related to Branchiootic Syndrome 3:

⁴²

Lung, Bone, Bone Marrow, Skin, Liver

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Publications for Branchiootic Syndrome 3

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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	1328.32	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	17637804 20301554 20301607 (more) 12843324 15141091

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Variations for Branchiootic Syndrome 3

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

⁷⁶

#	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

ClinVar genetic disease variations for Branchiootic Syndrome 3:

⁶ (show all 18)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SIX1	NM_005982.3(SIX1): c.560+1G> C	single nucleotide variant	Likely pathogenic	rs863223330	GRCh37	Chromosome 14, 61115347: 61115347
2	SIX1	NM_005982.3(SIX1): c.560+1G> C	single nucleotide variant	Likely pathogenic	rs863223330	GRCh38	Chromosome 14, 60648629: 60648629
3	SIX1	NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)	single nucleotide variant	Pathogenic	rs104894478	GRCh37	Chromosome 14, 61115522: 61115522
4	SIX1	NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)	single nucleotide variant	Pathogenic	rs104894478	GRCh38	Chromosome 14, 60648804: 60648804
5	SIX1	NM_005982.3(SIX1): c.328C> T (p.Arg110Trp)	single nucleotide variant	Pathogenic	rs80356459	GRCh37	Chromosome 14, 61115580: 61115580
6	SIX1	NM_005982.3(SIX1): c.328C> T (p.Arg110Trp)	single nucleotide variant	Pathogenic	rs80356459	GRCh38	Chromosome 14, 60648862: 60648862
7	SIX1	NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)	deletion	Pathogenic	rs80356460	GRCh37	Chromosome 14, 61115509: 61115511
8	SIX1	NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)	deletion	Pathogenic	rs80356460	GRCh38	Chromosome 14, 60648791: 60648793
9	SIX1	NM_005982.3(SIX1): c.364T> A (p.Trp122Arg)	single nucleotide variant	Pathogenic	rs121909770	GRCh37	Chromosome 14, 61115544: 61115544
10	SIX1	NM_005982.3(SIX1): c.364T> A (p.Trp122Arg)	single nucleotide variant	Pathogenic	rs121909770	GRCh38	Chromosome 14, 60648826: 60648826
11	SIX1	NM_005982.3(SIX1): c.460A> T (p.Lys154Ter)	single nucleotide variant	Likely pathogenic	rs1060499595	GRCh37	Chromosome 14, 61115448: 61115448
12	SIX1	NM_005982.3(SIX1): c.460A> T (p.Lys154Ter)	single nucleotide variant	Likely pathogenic	rs1060499595	GRCh38	Chromosome 14, 60648730: 60648730
13	SIX1	NM_005982.3(SIX1): c.191G> A (p.Arg64His)	single nucleotide variant	Uncertain significance	rs1051653507	GRCh37	Chromosome 14, 61115717: 61115717
14	SIX1	NM_005982.3(SIX1): c.191G> A (p.Arg64His)	single nucleotide variant	Uncertain significance	rs1051653507	GRCh38	Chromosome 14, 60648999: 60648999
15	SIX1	NM_005982.3(SIX1): c.644G> T (p.Ser215Ile)	single nucleotide variant	Uncertain significance	rs540778343	GRCh38	Chromosome 14, 60646494: 60646494
16	SIX1	NM_005982.3(SIX1): c.644G> T (p.Ser215Ile)	single nucleotide variant	Uncertain significance	rs540778343	GRCh37	Chromosome 14, 61113212: 61113212
17	SIX1	NM_005982.3(SIX1): c.474C> T (p.Ala158=)	single nucleotide variant	Likely benign	rs199743522	GRCh37	Chromosome 14, 61115434: 61115434
18	SIX1	NM_005982.3(SIX1): c.474C> T (p.Ala158=)	single nucleotide variant	Likely benign	rs199743522	GRCh38	Chromosome 14, 60648716: 60648716

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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

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FDA Approved Drugs

²⁰ FMA

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ Genetics Home Reference

²⁷ GenomeRNAi

²⁸ GEO DataSets

²⁹ GO

³⁰ GTR

³¹ HGMD

³² HMDB

³³ HPO

³⁴ ICD10

³⁵ ICD10 via Orphanet

³⁶ ICD9CM

³⁷ IUPHAR

³⁸ KEGG

³⁹ LifeMap

⁴⁰ LncRNADisease

⁴¹ LOVD

⁴² MalaCards

⁴³ MedGen

⁴⁴ MedlinePlus

⁴⁵ MeSH

⁴⁶ MESH via Orphanet

⁴⁷ MGI

⁴⁸ miR2Disease

⁴⁹ NCBI Bookshelf

⁵⁰ NCI

⁵¹ NCIt

⁵² NDF-RT

⁵³ NIH Clinical Center

⁵⁴ NIH Rare Diseases

⁵⁵ NINDS

⁵⁶ Novoseek

⁵⁷ Novus Biologicals

⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

⁶¹ PathCards

⁶² PharmGKB

⁶³ PubMed

⁶⁴ PubMed Health

⁶⁵ QIAGEN

⁶⁶ R&D Systems

⁶⁷ Reactome

⁶⁸ Sino Biological

⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ 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:

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

Drugs for Branchiootic Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

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

Genes for Branchiootic Syndrome 3

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

Variations for Branchiootic Syndrome 3

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

ClinVar 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