MCID: SBB001
MIFTS: 21

Sbbyss Syndrome

Categories: Genetic diseases, Neuronal diseases, Endocrine diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Sbbyss Syndrome

MalaCards integrated aliases for Sbbyss Syndrome:

Name: Sbbyss Syndrome 54 13
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type 12 56 14
Say-Barber-Biesecker-Young-Simpson Syndrome 12 56 71
Sbbyss 12 56 71
Ohdo Syndrome, Sbbys Variant 12 71
Young Simpson Syndrome 42 69
Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome 56
Say-Barber-Biesecker Variant of Ohdo Syndrome 71
Young-Simpson Syndrome 71
Yss 71

Characteristics:

Orphanet epidemiological data:

56
blepharophimosis-intellectual disability syndrome, sbbys type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 54 603736
Disease Ontology 12 DOID:0060290
SNOMED-CT 64 699298009
Orphanet 56 ORPHA3047
UMLS via Orphanet 70 C1863557
MedGen 40 C1863557
UMLS 69 C1863557

Summaries for Sbbyss Syndrome

OMIM : 54
Say-Barber-Biesecker-Young-Simpson syndrome, a variant of Ohdo syndrome (249620), is characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Many affected individuals have abnormalities of thyroid structure or function. YSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech (summary by Clayton-Smith et al., 2011). Genitopatellar syndrome (606170) is an allelic disorder with overlapping features. (603736)

MalaCards based summary : Sbbyss Syndrome, also known as blepharophimosis-intellectual disability syndrome, sbbys type, is related to genitopatellar syndrome and blepharophimosis intellectual disability syndromes, and has symptoms including intellectual disability An important gene associated with Sbbyss Syndrome is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include thyroid.

UniProtKB/Swiss-Prot : 71 Ohdo syndrome, SBBYS variant: A syndrome characterized by distinctive facial appearance with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth with a thin upper lip. The condition presents in infancy with severe hypotonia and feeding problems. Associated skeletal problems include joint laxity, abnormally long thumbs and great toes, and dislocated or hypoplastic patellae. Structural cardiac defects are present in around 50% of cases, and dental anomalies, including small and pointed teeth, are common. Optic atrophy and conductive or sensorineural deafness are repeatedly reported. Many affected individuals have abnormalities of thyroid structure or function. SBBYSS is usually associated with severe mental retardation, delayed motor milestones, and significantly impaired speech.

Related Diseases for Sbbyss Syndrome

Diseases related to Sbbyss Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 genitopatellar syndrome 32.1 FOXL2 KAT6B
2 blepharophimosis intellectual disability syndromes 12.1
3 say-barber-biesecker variant of ohdo syndrome 11.2
4 natural killer cell leukemia 9.5 FOXL2 KAT6B
5 teeth, congenital absence of, with taurodontia and sparse hair 9.4 FOXL2 KAT6B
6 cervical clear cell adenocarcinoma 9.2 FOXL2 KAT6B

Graphical network of the top 20 diseases related to Sbbyss Syndrome:



Diseases related to Sbbyss Syndrome

Symptoms & Phenotypes for Sbbyss Syndrome

Clinical features from OMIM:

603736

Human phenotypes related to Sbbyss Syndrome:

32
id Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249

Drugs & Therapeutics for Sbbyss Syndrome

Search Clinical Trials , NIH Clinical Center for Sbbyss Syndrome

Cochrane evidence based reviews: young simpson syndrome

Genetic Tests for Sbbyss Syndrome

Anatomical Context for Sbbyss Syndrome

MalaCards organs/tissues related to Sbbyss Syndrome:

39
Thyroid

Publications for Sbbyss Syndrome

Variations for Sbbyss Syndrome

ClinVar genetic disease variations for Sbbyss Syndrome:

6 (show all 11)
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.3962_3963delAA (p.Gln1321Argfs) deletion Likely pathogenic rs863224883 GRCh37 Chromosome 10, 76788544: 76788545
10 KAT6B NM_012330.3(KAT6B): c.3664+1G> A single nucleotide variant Pathogenic rs1057516033 GRCh38 Chromosome 10, 75025250: 75025250
11 KAT6B NM_012330.3(KAT6B): c.3216delA (p.Glu1073Argfs) deletion Pathogenic GRCh37 Chromosome 10, 76781833: 76781833

Expression for Sbbyss Syndrome

Search GEO for disease gene expression data for Sbbyss Syndrome.

Pathways for Sbbyss Syndrome

GO Terms for Sbbyss Syndrome

Biological processes related to Sbbyss Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.16 FOXL2 KAT6B
2 positive regulation of transcription, DNA-templated GO:0045893 8.96 FOXL2 KAT6B
3 negative regulation of transcription, DNA-templated GO:0045892 8.62 FOXL2 KAT6B

Sources for Sbbyss 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
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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