MCID: SYB002
MIFTS: 12

Say-Barber-Biesecker Variant of Ohdo Syndrome malady

Categories: Genetic diseases (common), Neuronal diseases, Mental diseases

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 23
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 23 24
Sbbyss 23 24
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 24
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 24
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 24
Ohdo Syndrome, Say-Barber-Biesecker Variant 24
 
Say-Barber-Biesecker-Young-Simpson Syndrome 24
Sbbys Variant of Ohdo Syndrome 24
Ohdo Syndrome, Sbbys Variant 24
Young Simpson Syndrome 66
Young-Simpson Syndrome 24
Ohdo/sbbys Syndrome 23
Bmrs Sbbys 24

Classifications:



Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

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Genetics Home Reference:24 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 syndromes and sbbyss syndrome. An important gene associated with Say-Barber-Biesecker Variant of Ohdo Syndrome is KAT6B (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 syndromes11.8
2sbbyss syndrome11.6
3ohdo syndrome10.5
4genitopatellar syndrome10.3
5kat6b-related disorders10.3

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 Syndrome23

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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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
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