MCID: SYB002
MIFTS: 14

Say-Barber-Biesecker Variant of Ohdo Syndrome malady

Genetic diseases (common), Neuronal diseases, Mental diseases categories

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

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Aliases & Descriptions for Say-Barber-Biesecker Variant of Ohdo Syndrome:

Name: Say-Barber-Biesecker Variant of Ohdo Syndrome 22
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 22 23
Ohdo Syndrome, Sbbys Variant 22 23
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 23
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 23
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 23
Ohdo Syndrome, Say-Barber-Biesecker Variant 23
 
Say-Barber-Biesecker-Young-Simpson Syndrome 23
Sbbys Variant of Ohdo Syndrome 23
Young-Simpson Syndrome 23
Sbbyss Syndrome 22
Bmrs Sbbys 23
Sbbyss 23


Classifications:



Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Genetics Home Reference:23 The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body.

MalaCards based summary: Say-Barber-Biesecker Variant of Ohdo Syndrome, also known as say-barber-biesecker-young-simpson variant of ohdo syndrome, is related to blepharophimosis-intellectual disability syndrome, sbbys type and blepharophimosis intellectual disability syndromes. An important gene associated with Say-Barber-Biesecker Variant of Ohdo Syndrome is KAT6B (K(Lysine) Acetyltransferase 6B).

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

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Diseases related to Say-Barber-Biesecker Variant of Ohdo Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1blepharophimosis-intellectual disability syndrome, sbbys type10.8
2blepharophimosis intellectual disability syndromes10.8
3sbbyss syndrome10.7
4ohdo syndrome10.7
5genitopatellar syndrome10.5
6blepharophimosis10.3
7hypothyroidism10.3

Graphical network of diseases related to Say-Barber-Biesecker Variant of Ohdo Syndrome:



Diseases related to say-barber-biesecker variant of ohdo syndrome

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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Interventional clinical trials:

Search ClinicalTrials, 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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Genetic tests related to Say-Barber-Biesecker Variant of Ohdo Syndrome:

id Genetic test Affiliating Genes
1 Say-Barber-Biesecker Variant of Ohdo Syndrome22

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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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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Clinvar genetic disease variations for Say-Barber-Biesecker Variant of Ohdo Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1KAT6BNM_012330.3(KAT6B): c.4405dupT (p.Ser1469Phefs)duplicationPathogenicrs199470479GRCh38Chr 10, 75029229: 75029229
2KAT6BNM_012330.3(KAT6B): c.5370_5373dup (p.Ile1792Glnfs)duplicationPathogenicrs199470483GRCh37Chr 10, 76789952: 76789955
3KAT6BNM_012330.3(KAT6B): c.3018delA (p.Glu1007Argfs)deletionPathogenicrs199470468GRCh37Chr 10, 76781040: 76781040
4KAT6BNM_012330.3(KAT6B): c.4069G> T (p.Glu1357Ter)single nucleotide variantPathogenicrs199470476GRCh37Chr 10, 76788651: 76788651
5KAT6BNM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs)deletionPathogenicrs199470477GRCh38Chr 10, 75029029: 75029030
6KAT6BNM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs)duplicationPathogenicrs199470482GRCh37Chr 10, 76789783: 76789792
7KAT6BNM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs)indelPathogenicrs387907364GRCh37Chr 10, 76789646: 76789653
8KAT6BNM_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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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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GO Terms for genes affiliated with Say-Barber-Biesecker Variant of Ohdo Syndrome

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Sources for Say-Barber-Biesecker Variant of Ohdo Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet