MCID: BRC061
MIFTS: 10

Brachiootic Syndrome 3 malady

Genetic diseases (common) category

Summaries for Brachiootic Syndrome 3

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MalaCards based summary: Brachiootic 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:46 608389

Aliases & Classifications for Brachiootic Syndrome 3

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Brachiootic Syndrome 3, Aliases & Descriptions:

Name: Brachiootic Syndrome 3 46


Classifications:

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


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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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:

63
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:

7
id Gene Name 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.364T> A (p.Trp122Arg)single nucleotide variantPathogenicrs121909770GRCh37Chr 14, 61115544: 61115544

Expression for genes affiliated with Brachiootic Syndrome 3

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Expression patterns in normal tissues for genes affiliated with Brachiootic Syndrome 3

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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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet