MCID: SYB002

Say-Barber-Biesecker Variant of Ohdo Syndrome malady

Genetic diseases (common) category
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Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

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33MalaCards
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MalaCards: Say-Barber-Biesecker Variant of Ohdo Syndrome, is also known as young simpson syndrome

Aliases & Classifications for Say-Barber-Biesecker Variant of Ohdo Syndrome

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62UMLS, 20GeneTests
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Classifications:

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


Aliases & Descriptions:

say-barber-biesecker variant of ohdo syndrome 20
young simpson syndrome 62


Related Diseases for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Symptoms for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Drugs & Therapeutics for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Say-Barber-Biesecker Variant of Ohdo Syndrome

Search NIH Clinical Center for Say-Barber-Biesecker Variant of Ohdo Syndrome

Genetic Tests for Say-Barber-Biesecker Variant of Ohdo Syndrome

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20GeneTests
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Genetic tests related to Say-Barber-Biesecker Variant of Ohdo Syndrome:

id Genetic test Affiliating Genes
1 Say-Barber-Biesecker Variant of Ohdo Syndrome20

Anatomical Context for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Animal Models for Say-Barber-Biesecker Variant of Ohdo Syndrome or affiliated genes

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Publications for Say-Barber-Biesecker Variant of Ohdo Syndrome

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52PubMed
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Articles related to Say-Barber-Biesecker Variant of Ohdo Syndrome:

idTitleAuthorsYear
1
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber- Biesecker variant of Ohdo syndrome. (22077973)
2011

Variations for Say-Barber-Biesecker Variant of Ohdo Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Say-Barber-Biesecker Variant of Ohdo Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1KAT6BNM_012330.3(KAT6B): c.4069G> T (p.Glu1357Ter)single nucleotide variantPathogenicrs199470476GRCh37Chr 10, 76788651: 76788651
2KAT6BNM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs)deletionPathogenicrs199470477GRCh38Chr 10, 75029029: 75029030
3KAT6BNM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs)duplicationPathogenicrs199470482GRCh37Chr 10, 76789783: 76789792
4KAT6BNM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs)indelPathogenicrs387907364GRCh37Chr 10, 76789646: 76789653
5KAT6BNM_012330.3(KAT6B): c.5389C> T (p.Arg1797Ter)single nucleotide variantPathogenicrs199470484GRCh37Chr 10, 76789971: 76789971

Expression for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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15Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Say-Barber-Biesecker Variant of Ohdo Syndrome.

Pathways for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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Compounds for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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GO Terms for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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Products for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Say-Barber-Biesecker Variant of Ohdo Syndrome

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet