MCID: SYB002
MIFTS: 12

Say-Barber-Biesecker Variant of Ohdo Syndrome malady

Categories: Genetic diseases, Neuronal diseases, Mental diseases

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

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
Say-Barber-Biesecker-Young-Simpson Syndrome 25
Ohdo Syndrome, Say-Barber-Biesecker Variant 25
Sbbys Variant of Ohdo Syndrome 25
Ohdo Syndrome, Sbbys Variant 25
Young Simpson Syndrome 69
Young-Simpson Syndrome 25
Ohdo/sbbys Syndrome 24
Bmrs Sbbys 25

Classifications:



Summaries for Say-Barber-Biesecker Variant of Ohdo Syndrome

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

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

id Related Disease Score Top Affiliating Genes
1 sbbyss syndrome 11.5
2 ohdo syndrome 10.4
3 genitopatellar syndrome 10.2
4 kat6b-related disorders 10.2

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

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

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

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

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

id Genetic test Affiliating Genes
1 Say-Barber-Biesecker Variant of Ohdo Syndrome 24

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

Publications for Say-Barber-Biesecker Variant of Ohdo Syndrome

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

id Title Authors Year
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

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

6
id Gene Variation Type Significance SNP ID Assembly Location
1 KAT6B NM_012330.3(KAT6B): c.4405dupT (p.Ser1469Phefs) duplication Pathogenic rs199470479 GRCh38 Chromosome 10, 75029229: 75029229
2 KAT6B NM_012330.3(KAT6B): c.5370_5373dup (p.Ile1792Glnfs) duplication Pathogenic rs199470483 GRCh37 Chromosome 10, 76789952: 76789955
3 KAT6B NM_012330.3(KAT6B): c.3018delA (p.Glu1007Argfs) deletion Pathogenic rs199470468 GRCh37 Chromosome 10, 76781040: 76781040
4 KAT6B NM_012330.3(KAT6B): c.4069G> T (p.Glu1357Ter) single nucleotide variant Pathogenic rs199470476 GRCh37 Chromosome 10, 76788651: 76788651
5 KAT6B NM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs) deletion Pathogenic rs199470477 GRCh37 Chromosome 10, 76788787: 76788788
6 KAT6B NM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) duplication Pathogenic rs199470482 GRCh37 Chromosome 10, 76789783: 76789792
7 KAT6B NM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs) indel Pathogenic rs387907364 GRCh37 Chromosome 10, 76789646: 76789653
8 KAT6B NM_012330.3(KAT6B): c.5389C> T (p.Arg1797Ter) single nucleotide variant Pathogenic rs199470484 GRCh37 Chromosome 10, 76789971: 76789971
9 KAT6B NM_012330.3(KAT6B): c.3664+1G> A single nucleotide variant Pathogenic rs1057516033 GRCh38 Chromosome 10, 75025250: 75025250

Expression for Say-Barber-Biesecker Variant of Ohdo Syndrome

Search GEO for disease gene expression data for Say-Barber-Biesecker Variant of Ohdo Syndrome.

Pathways for Say-Barber-Biesecker Variant of Ohdo Syndrome

GO Terms for Say-Barber-Biesecker Variant of Ohdo Syndrome

Sources for Say-Barber-Biesecker Variant of Ohdo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
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42 MeSH
43 MESH via Orphanet
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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