BOS3
MCID: BRN128
MIFTS: 19

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 75 29 6 73
Bo Syndrome 3 57 75
Bos3 57 75
Branchio-Otic Dysplasia 3 75
Branchio-Otic Syndrome 3 75

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:



Summaries for Branchiootic Syndrome 3

UniProtKB/Swiss-Prot : 75 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 Oxaliplatin and leucovorin have been mentioned in the context of this disorder. Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and preauricular skin tag

Description 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

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

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 lacrimal duct stenosis 32 HP:0007678
6 commissural lip pit 32 HP:0002710

Drugs & Therapeutics for Branchiootic Syndrome 3

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

(show all 28)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxaliplatin Approved, Investigational Phase 2, Phase 3 61825-94-3 43805 6857599 5310940 9887054
2
leucovorin Approved Phase 2, Phase 3,Phase 3 58-05-9 6006 143
3
Levoleucovorin Approved, Investigational Phase 2, Phase 3 68538-85-2
4
Fluorouracil Approved Phase 2, Phase 3 51-21-8 3385
5
Folic Acid Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-30-3 6037
6 Antidotes Phase 2, Phase 3
7 Trace Elements Phase 2, Phase 3
8 Vitamin B9 Phase 2, Phase 3
9 Vitamins Phase 2, Phase 3
10 Micronutrients Phase 2, Phase 3
11 Vitamin B Complex Phase 2, Phase 3
12 Liver Extracts Phase 2, Phase 3
13 Folate Phase 2, Phase 3
14 Hematinics Phase 2, Phase 3
15 Protective Agents Phase 2, Phase 3
16
Fludarabine Approved Phase 1, Phase 2,Phase 2 75607-67-9, 21679-14-1 30751
17
alemtuzumab Approved, Investigational Phase 1, Phase 2 216503-57-0
18
Thiotepa Approved, Investigational Phase 1, Phase 2 52-24-4 5453
19
rituximab Approved Phase 1, Phase 2 174722-31-7 10201696
20
Hydroxyurea Approved Phase 1, Phase 2 127-07-1 3657
21
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
22
Tacrolimus Approved, Investigational Phase 1, Phase 2 104987-11-3 445643 439492
23 Immunosuppressive Agents Phase 1, Phase 2
24 Antirheumatic Agents Phase 1, Phase 2
25 Antineoplastic Agents, Alkylating Phase 1, Phase 2
26 Immunologic Factors Phase 1, Phase 2
27 Alkylating Agents Phase 1, Phase 2
28 Nucleic Acid Synthesis Inhibitors Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Efficacy of FOLFOX Versus FOLFOX Plus Aflibercept in K-ras Mutant Patients With Resectable Liver Metastases Withdrawn NCT01646554 Phase 2, Phase 3 Modified FOLFOX6
2 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

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
Skin

Publications for Branchiootic Syndrome 3

Variations for Branchiootic Syndrome 3

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

75
# 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.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh37 Chromosome 14, 61115522: 61115522
2 SIX1 NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys) single nucleotide variant Pathogenic rs104894478 GRCh38 Chromosome 14, 60648804: 60648804
3 SIX1 NM_005982.3(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh37 Chromosome 14, 61115580: 61115580
4 SIX1 NM_005982.3(SIX1): c.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh38 Chromosome 14, 60648862: 60648862
5 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh37 Chromosome 14, 61115509: 61115511
6 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh38 Chromosome 14, 60648791: 60648793
7 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh37 Chromosome 14, 61115544: 61115544
8 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh38 Chromosome 14, 60648826: 60648826
9 SIX1 NM_005982.3(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 GRCh37 Chromosome 14, 61115347: 61115347
10 SIX1 NM_005982.3(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 GRCh38 Chromosome 14, 60648629: 60648629
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 GRCh37 Chromosome 14, 61113212: 61113212
16 SIX1 NM_005982.3(SIX1): c.644G> T (p.Ser215Ile) single nucleotide variant Uncertain significance rs540778343 GRCh38 Chromosome 14, 60646494: 60646494
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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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