MCID: BRC061
MIFTS: 16

Brachiootic Syndrome 3 malady

Genetic diseases (common) category

Aliases & Classifications for Brachiootic Syndrome 3

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Brachiootic Syndrome 3, Aliases & Descriptions:

Name: Brachiootic Syndrome 3 45 10
 
Branchiootic Syndrome 3 45 22 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)


External Ids:

OMIM45 608389

Summaries for Brachiootic Syndrome 3

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MalaCards based summary: Brachiootic Syndrome 3, is also known as branchiootic syndrome 3, and has symptoms including autosomal dominant inheritance, sensorineural hearing impairment and commissural lip pit. An important gene associated with Brachiootic Syndrome 3 is SIX1 (SIX homeobox 1).

Description from OMIM:45 608389

Related Diseases for Brachiootic Syndrome 3

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Symptoms for Brachiootic Syndrome 3

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Clinical features from OMIM:

608389

HPO human phenotypes related to Brachiootic Syndrome 3:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 sensorineural hearing impairment HP:0000407
3 commissural lip pit HP:0002710
4 preauricular pit HP:0004467

Drugs & Therapeutics for Brachiootic Syndrome 3

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Drug clinical trials:

Search ClinicalTrials for Brachiootic Syndrome 3

Search NIH Clinical Center for Brachiootic Syndrome 3

Genetic Tests for Brachiootic Syndrome 3

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Genetic tests related to Brachiootic Syndrome 3:

id Genetic test Affiliating Genes
1 Branchiootic Syndrome 322

Anatomical Context for Brachiootic Syndrome 3

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Animal Models for Brachiootic Syndrome 3 or affiliated genes

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Publications for Brachiootic Syndrome 3

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Variations for Brachiootic Syndrome 3

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

62
id Symbol AA change Variation ID SNP ID
1SIX1p.Arg110TrpVAR_031024
2SIX1p.Tyr129CysVAR_031025
3SIX1p.Val17GluVAR_064948
4SIX1p.His73ProVAR_064949
5SIX1p.Val106GlyVAR_064950
6SIX1p.Arg110GlnVAR_064951
7SIX1p.Arg112CysVAR_064952
8SIX1p.Trp122ArgVAR_064953

Clinvar genetic disease variations for Brachiootic Syndrome 3:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SIX1NM_005982.3(SIX1): c.386A> G (p.Tyr129Cys)single nucleotide variantPathogenicrs104894478GRCh37Chr 14, 61115522: 61115522
2SIX1NM_005982.3(SIX1): c.328C> T (p.Arg110Trp)single nucleotide variantPathogenicrs80356459GRCh37Chr 14, 61115580: 61115580
3SIX1NM_005982.3(SIX1): c.397_399delGAG (p.Glu133del)deletionPathogenicrs80356460GRCh37Chr 14, 61115509: 61115511
4SIX1NM_005982.3(SIX1): c.364T> A (p.Trp122Arg)single nucleotide variantPathogenicrs121909770GRCh37Chr 14, 61115544: 61115544

Expression for genes affiliated with Brachiootic Syndrome 3

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

Pathways for genes affiliated with Brachiootic Syndrome 3

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Compounds for genes affiliated with Brachiootic Syndrome 3

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GO Terms for genes affiliated with Brachiootic Syndrome 3

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Products for genes affiliated with Brachiootic Syndrome 3

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Brachiootic Syndrome 3

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet