MCID: SYB002
MIFTS: 11

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

About this section

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

Name: Say-Barber-Biesecker Variant of Ohdo Syndrome 24
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 24 25
Sbbyss 24 25
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 25
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 25
Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 25
Ohdo Syndrome, Say-Barber-Biesecker Variant 25
 
Say-Barber-Biesecker-Young-Simpson Syndrome 25
Sbbys Variant of Ohdo Syndrome 25
Ohdo Syndrome, Sbbys Variant 25
Young Simpson Syndrome 68
Young-Simpson Syndrome 25
Ohdo/sbbys Syndrome 24
Bmrs Sbbys 25

Classifications:



Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

About this section
Genetics Home Reference:25 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 sbbyss syndrome and ohdo 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

About this section

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

idRelated DiseaseScoreTop Affiliating Genes
1sbbyss syndrome11.5
2ohdo syndrome10.4
3genitopatellar syndrome10.2
4kat6b-related disorders10.2

Symptoms & Phenotypes for Say-Barber-Biesecker Variant of Ohdo Syndrome

About this section

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

About this section

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

About this section

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

id Genetic test Affiliating Genes
1 Say-Barber-Biesecker Variant of Ohdo Syndrome24

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

About this section

Publications for Say-Barber-Biesecker Variant of Ohdo Syndrome

About this section

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

About this section

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)SNVPathogenicrs199470476GRCh37Chr 10, 76788651: 76788651
5KAT6BNM_012330.3(KAT6B): c.3664+1G> ASNVPathogenicGRCh38Chr 10, 75025250: 75025250
6KAT6BNM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs)deletionPathogenicrs199470477GRCh37Chr 10, 76788787: 76788788
7KAT6BNM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs)duplicationPathogenicrs199470482GRCh37Chr 10, 76789783: 76789792
8KAT6BNM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs)indelPathogenicrs387907364GRCh37Chr 10, 76789646: 76789653
9KAT6BNM_012330.3(KAT6B): c.5389C> T (p.Arg1797Ter)SNVPathogenicrs199470484GRCh37Chr 10, 76789971: 76789971

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

About this section
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

About this section

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

About this section

Sources for Say-Barber-Biesecker Variant of Ohdo Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet