MCID: BRC061
MIFTS: 22

Brachiootic Syndrome 3 malady

Category: Genetic diseases (common)

Aliases & Classifications for Brachiootic Syndrome 3

About this section

Aliases & Descriptions for Brachiootic Syndrome 3:

Name: Brachiootic Syndrome 3 50 12
Branchio-Otic Syndrome 3 68 25
Branchio-Otic Dysplasia 3 68
 
Branchiootic Syndrome 3 68
Bo Syndrome 3 68
Bos3 68

Characteristics:

HPO:

62
brachiootic syndrome 3:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 608389
MedGen35 C1842124
MeSH37 D003638

Summaries for Brachiootic Syndrome 3

About this section
UniProtKB/Swiss-Prot:68 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 preauricular skin tag, sensorineural hearing impairment and commissural lip pit. An important gene associated with Brachiootic Syndrome 3 is SIX1 (SIX Homeobox 1). Affiliated tissues include skin.

Description from OMIM:50 608389

Related Diseases for Brachiootic Syndrome 3

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1six1-related branchiootorenal spectrum disorders11.0
2branchiootic syndrome 110.0

Symptoms for Brachiootic Syndrome 3

About this section

Symptoms by clinical synopsis from OMIM:

608389

Clinical features from OMIM:

608389

HPO human phenotypes related to Brachiootic Syndrome 3:

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

Drugs & Therapeutics for Brachiootic Syndrome 3

About this section

Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Brachiootic Syndrome 3

Genetic Tests for Brachiootic Syndrome 3

About this section

Genetic tests related to Brachiootic Syndrome 3:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome 325

Anatomical Context for Brachiootic Syndrome 3

About this section

MalaCards organs/tissues related to Brachiootic Syndrome 3:

34
Skin

Animal Models for Brachiootic Syndrome 3 or affiliated genes

About this section

Publications for Brachiootic Syndrome 3

About this section

Variations for Brachiootic Syndrome 3

About this section

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

68
id Symbol AA change Variation ID SNP ID
1SIX1p.Arg110TrpVAR_031024rs80356459
2SIX1p.Tyr129CysVAR_031025rs104894478
3SIX1p.Val17GluVAR_064948rs397515562
4SIX1p.His73ProVAR_064949
5SIX1p.Val106GlyVAR_064950rs397515560
6SIX1p.Arg110GlnVAR_064951
7SIX1p.Arg112CysVAR_064952rs397515561
8SIX1p.Trp122ArgVAR_064953rs121909770

Clinvar genetic disease variations for Brachiootic Syndrome 3:

5
id Gene Variation Type Significance SNP ID Assembly Location
1SIX1NM_005982.3(SIX1): c.560+1G> Csingle nucleotide variantLikely pathogenicrs863223330GRCh37Chr 14, 61115347: 61115347
2SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
3SIX1NM_005982.3(SIX1): c.328C> T (p.Arg110Trp)single nucleotide variantPathogenicrs80356459GRCh37Chr 14, 61115580: 61115580
4SIX1NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)deletionPathogenicrs80356460GRCh37Chr 14, 61115509: 61115511
5SIX1NM_005982.3(SIX1): c.364T> A (p.Trp122Arg)single nucleotide variantPathogenicrs121909770GRCh37Chr 14, 61115544: 61115544

Expression for genes affiliated with Brachiootic Syndrome 3

About this section
Search GEO for disease gene expression data for Brachiootic Syndrome 3.

Pathways for genes affiliated with Brachiootic Syndrome 3

About this section

GO Terms for genes affiliated with Brachiootic Syndrome 3

About this section

Sources for Brachiootic Syndrome 3

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet