BOS3
MCID: BRC061
MIFTS: 21

Brachiootic Syndrome 3 (BOS3) malady

Categories: Genetic diseases

Aliases & Classifications for Brachiootic Syndrome 3

Aliases & Descriptions for Brachiootic Syndrome 3:

Name: Brachiootic Syndrome 3 54 13
Branchio-Otic Syndrome 3 66 29
Branchiootic Syndrome 3 66 69
Branchio-Otic Dysplasia 3 66
Bo Syndrome 3 66
Bos3 66

Characteristics:

HPO:

32
brachiootic syndrome 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608389
MedGen 40 C1842124
MeSH 42 D003638

Summaries for Brachiootic Syndrome 3

UniProtKB/Swiss-Prot : 66 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 : Brachiootic Syndrome 3, also known as branchio-otic syndrome 3, is related to six1-related branchiootorenal spectrum disorders and branchiootic syndrome 1, and has symptoms including sensorineural hearing impairment, preauricular skin tag and branchial cyst. An important gene associated with Brachiootic Syndrome 3 is SIX1 (SIX Homeobox 1). Affiliated tissues include skin.

Description from OMIM: 608389

Related Diseases for Brachiootic Syndrome 3

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

id Related Disease Score Top Affiliating Genes
1 six1-related branchiootorenal spectrum disorders 11.0
2 branchiootic syndrome 1 10.9

Symptoms & Phenotypes for Brachiootic Syndrome 3

Symptoms by clinical synopsis from OMIM:

608389

Clinical features from OMIM:

608389

Human phenotypes related to Brachiootic Syndrome 3:

32 (show all 6)
id 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 Brachiootic Syndrome 3

Search Clinical Trials , NIH Clinical Center for Brachiootic Syndrome 3

Genetic Tests for Brachiootic Syndrome 3

Genetic tests related to Brachiootic Syndrome 3:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome 3 29

Anatomical Context for Brachiootic Syndrome 3

MalaCards organs/tissues related to Brachiootic Syndrome 3:

39
Skin

Publications for Brachiootic Syndrome 3

Variations for Brachiootic Syndrome 3

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

66
id 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
7 SIX1 p.Arg112Cys VAR_064952 rs397515561
8 SIX1 p.Trp122Arg VAR_064953 rs121909770

ClinVar genetic disease variations for Brachiootic Syndrome 3:

6
id 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.328C> T (p.Arg110Trp) single nucleotide variant Pathogenic rs80356459 GRCh37 Chromosome 14, 61115580: 61115580
3 SIX1 NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del) deletion Pathogenic rs80356460 GRCh37 Chromosome 14, 61115509: 61115511
4 SIX1 NM_005982.3(SIX1): c.364T> A (p.Trp122Arg) single nucleotide variant Pathogenic rs121909770 GRCh37 Chromosome 14, 61115544: 61115544
5 SIX1 NM_005982.3(SIX1): c.560+1G> C single nucleotide variant Likely pathogenic rs863223330 GRCh37 Chromosome 14, 61115347: 61115347
6 SIX1 NM_005982.3(SIX1): c.460A> T (p.Lys154Ter) single nucleotide variant Likely pathogenic rs1060499595 GRCh38 Chromosome 14, 60648730: 60648730

Expression for Brachiootic Syndrome 3

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

Pathways for Brachiootic Syndrome 3

GO Terms for Brachiootic Syndrome 3

Sources for Brachiootic Syndrome 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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