SBBYSS
MCID: OHD005
MIFTS: 37

Ohdo Syndrome, Sbbys Variant (SBBYSS)

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

Aliases & Classifications for Ohdo Syndrome, Sbbys Variant

MalaCards integrated aliases for Ohdo Syndrome, Sbbys Variant:

Name: Ohdo Syndrome, Sbbys Variant 58 12 76
Say-Barber-Biesecker-Young-Simpson Syndrome 58 12 60 76 41
Young Simpson Syndrome 77 30 6 45 74
Sbbyss 58 12 60 76
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type 12 60 15
Young-Simpson Syndrome 58 76 38
Sbbyss Syndrome 58 13
Yss 58 76
Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome 60
Say-Barber-Biesecker Variant of Ohdo Syndrome 76
Young-Simpson Syndrome; Yss 58

Characteristics:

Orphanet epidemiological data:

60
blepharophimosis-intellectual disability syndrome, sbbys type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



Summaries for Ohdo Syndrome, Sbbys Variant

OMIM : 58 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 : Ohdo Syndrome, Sbbys Variant, also known as say-barber-biesecker-young-simpson syndrome, is related to ohdo syndrome and blepharophimosis. An important gene associated with Ohdo Syndrome, Sbbys Variant is KAT6B (Lysine Acetyltransferase 6B). Affiliated tissues include thyroid, heart and tongue, and related phenotypes are low-set ears and hypothyroidism

Disease Ontology : 12 A group of syndromes including Ohdo syndrome and Say Barber Biesecker Youn-Simpson syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.

UniProtKB/Swiss-Prot : 76 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.

Wikipedia : 77 Young–Simpson syndrome (YSS) is a rare congenital disorder with symptoms including hypothyroidism, heart... more...

Related Diseases for Ohdo Syndrome, Sbbys Variant

Diseases related to Ohdo Syndrome, Sbbys Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 ohdo syndrome 30.3 FOXL2 KAT6B
2 blepharophimosis 29.6 FOXL2 KAT6B
3 blepharophimosis intellectual disability syndromes 12.7
4 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.7
5 genitopatellar syndrome 11.4
6 autism 10.6
7 autism spectrum disorder 10.6
8 xp22.3 microdeletion syndrome 10.3
9 hypothyroidism 10.3
10 congenital hypothyroidism 10.1
11 heart disease 10.0
12 atrial heart septal defect 10.0
13 kat6b-related disorders 10.0
14 eyelid disease 9.6 FOXL2 KAT6B
15 ptosis 9.4 FOXL2 KAT6B

Graphical network of the top 20 diseases related to Ohdo Syndrome, Sbbys Variant:



Diseases related to Ohdo Syndrome, Sbbys Variant

Symptoms & Phenotypes for Ohdo Syndrome, Sbbys Variant

Human phenotypes related to Ohdo Syndrome, Sbbys Variant:

60 33 (show top 50) (show all 51)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000369
2 hypothyroidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000821
3 intellectual disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001252
5 global developmental delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001263
6 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
7 retrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000278
8 prominent occiput 60 33 hallmark (90%) Very frequent (99-80%) HP:0000269
9 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
10 specific learning disability 60 33 hallmark (90%) Very frequent (99-80%) HP:0001328
11 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
12 severe short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0003510
13 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
14 long nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003189
15 sloping forehead 60 33 hallmark (90%) Very frequent (99-80%) HP:0000340
16 prominent nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000448
17 short palpebral fissure 60 33 hallmark (90%) Very frequent (99-80%) HP:0012745
18 posteriorly rotated ears 60 33 hallmark (90%) Very frequent (99-80%) HP:0000358
19 seizures 60 33 frequent (33%) Frequent (79-30%) HP:0001250
20 failure to thrive 60 33 frequent (33%) Frequent (79-30%) HP:0001508
21 recurrent respiratory infections 60 33 frequent (33%) Frequent (79-30%) HP:0002205
22 microcephaly 60 33 frequent (33%) Frequent (79-30%) HP:0000252
23 feeding difficulties 60 33 frequent (33%) Frequent (79-30%) HP:0011968
24 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
25 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
26 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
27 clinodactyly of the 5th finger 60 33 frequent (33%) Frequent (79-30%) HP:0004209
28 abnormality of the antihelix 60 33 frequent (33%) Frequent (79-30%) HP:0009738
29 bilateral single transverse palmar creases 60 33 frequent (33%) Frequent (79-30%) HP:0007598
30 polyhydramnios 60 33 frequent (33%) Frequent (79-30%) HP:0001561
31 ventricular septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001629
32 camptodactyly of finger 60 33 frequent (33%) Frequent (79-30%) HP:0100490
33 atrioventricular canal defect 60 33 frequent (33%) Frequent (79-30%) HP:0006695
34 bifid uvula 60 33 frequent (33%) Frequent (79-30%) HP:0000193
35 thyroid hypoplasia 60 33 frequent (33%) Frequent (79-30%) HP:0005990
36 submucous cleft hard palate 60 33 frequent (33%) Frequent (79-30%) HP:0000176
37 thyroid agenesis 60 33 frequent (33%) Frequent (79-30%) HP:0008191
38 abnormality of the cheek 60 33 frequent (33%) Frequent (79-30%) HP:0004426
39 ectopic thyroid 60 33 frequent (33%) Frequent (79-30%) HP:0100028
40 neoplasm of the tongue 60 33 occasional (7.5%) Occasional (29-5%) HP:0100648
41 abnormal nasolacrimal system morphology 33 occasional (7.5%) HP:0000614
42 depressed nasal bridge 33 HP:0005280
43 intellectual disability, severe 33 HP:0010864
44 microdontia 33 HP:0000691
45 growth delay 60 Frequent (79-30%)
46 dilated cardiomyopathy 33 HP:0001644
47 motor delay 33 HP:0001270
48 generalized hypotonia 33 HP:0001290
49 abnormality of the nasolacrimal system 60 Occasional (29-5%)
50 epicanthus inversus 33 HP:0000537

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly angulated ears

Head And Neck Head:
microcephaly
prominent occiput

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Nose:
bulbous nose
flat nasal bridge

Neurologic Central Nervous System:
hypotonia
mental retardation, severe
delayed motor milestones
impaired speech

Skeletal Hands:
fifth-finger clinodactyly

Endocrine Features:
hypothyroidism

Head And Neck Mouth:
micrognathia
orofacial cleft

Cardiovascular Heart:
dilated cardiomyopathy
structural cardiac defects

Head And Neck Eyes:
blepharophimosis
epicanthus inversus

Head And Neck Teeth:
small teeth
pointed teeth

Clinical features from OMIM:

603736

Drugs & Therapeutics for Ohdo Syndrome, Sbbys Variant

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome, Sbbys Variant

Cochrane evidence based reviews: young simpson syndrome

Genetic Tests for Ohdo Syndrome, Sbbys Variant

Genetic tests related to Ohdo Syndrome, Sbbys Variant:

# Genetic test Affiliating Genes
1 Young Simpson Syndrome 30 KAT6B

Anatomical Context for Ohdo Syndrome, Sbbys Variant

MalaCards organs/tissues related to Ohdo Syndrome, Sbbys Variant:

42
Thyroid, Heart, Tongue

Publications for Ohdo Syndrome, Sbbys Variant

Articles related to Ohdo Syndrome, Sbbys Variant:

(show all 13)
# Title Authors Year
1
A novel pathogenic frameshift variant of KAT6B identified by clinical exome sequencing in a newborn with the Say-Barber-Biesecker-Young-Simpson syndrome. ( 30921092 )
2019
2
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. ( 28710305 )
2017
3
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2017
4
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
5
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? ( 28857140 )
2017
6
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome. ( 28232779 )
2017
7
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. ( 28758091 )
2017
8
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. ( 26334766 )
2015
9
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. ( 23436491 )
2013
10
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. ( 21344633 )
2011
11
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. ( 22077973 )
2011
12
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. ( 18798845 )
2008
13
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. ( 8055130 )
1994

Variations for Ohdo Syndrome, Sbbys Variant

ClinVar genetic disease variations for Ohdo Syndrome, Sbbys Variant:

6 (show all 38)
# 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.4405dupT (p.Ser1469Phefs) duplication Pathogenic rs199470479 GRCh37 Chromosome 10, 76788987: 76788987
3 KAT6B NM_012330.3(KAT6B): c.5370_5373dup (p.Ile1792Glnfs) duplication Pathogenic rs199470483 GRCh37 Chromosome 10, 76789952: 76789955
4 KAT6B NM_012330.3(KAT6B): c.5370_5373dup (p.Ile1792Glnfs) duplication Pathogenic rs199470483 GRCh38 Chromosome 10, 75030194: 75030197
5 KAT6B NM_012330.3(KAT6B): c.3018delA (p.Glu1007Argfs) deletion Pathogenic rs199470468 GRCh37 Chromosome 10, 76781040: 76781040
6 KAT6B NM_012330.3(KAT6B): c.3018delA (p.Glu1007Argfs) deletion Pathogenic rs199470468 GRCh38 Chromosome 10, 75021282: 75021282
7 KAT6B NM_012330.3(KAT6B): c.4069G> T (p.Glu1357Ter) single nucleotide variant Pathogenic rs199470476 GRCh37 Chromosome 10, 76788651: 76788651
8 KAT6B NM_012330.3(KAT6B): c.4069G> T (p.Glu1357Ter) single nucleotide variant Pathogenic rs199470476 GRCh38 Chromosome 10, 75028893: 75028893
9 KAT6B NM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs) deletion Pathogenic rs199470477 GRCh37 Chromosome 10, 76788787: 76788788
10 KAT6B NM_012330.3(KAT6B): c.4205_4206delCT (p.Ser1402Cysfs) deletion Pathogenic rs199470477 GRCh38 Chromosome 10, 75029029: 75029030
11 KAT6B NM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) duplication Pathogenic rs199470482 GRCh37 Chromosome 10, 76789783: 76789792
12 KAT6B NM_012330.3(KAT6B): c.5201_5210dupTGCTGCAGCA (p.Gln1737Hisfs) duplication Pathogenic rs199470482 GRCh38 Chromosome 10, 75030025: 75030034
13 KAT6B NM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs) indel Pathogenic rs387907364 GRCh37 Chromosome 10, 76789646: 76789653
14 KAT6B NM_012330.3(KAT6B): c.5064_5071delTACTATGGinsCACA (p.Met1690Glufs) indel Pathogenic rs387907364 GRCh38 Chromosome 10, 75029888: 75029895
15 KAT6B NM_012330.3(KAT6B): c.5389C> T (p.Arg1797Ter) single nucleotide variant Pathogenic rs199470484 GRCh37 Chromosome 10, 76789971: 76789971
16 KAT6B NM_012330.3(KAT6B): c.5389C> T (p.Arg1797Ter) single nucleotide variant Pathogenic rs199470484 GRCh38 Chromosome 10, 75030213: 75030213
17 KAT6B NM_012330.3(KAT6B): c.3962_3963delAA (p.Gln1321Argfs) deletion Likely pathogenic rs863224883 GRCh37 Chromosome 10, 76788544: 76788545
18 KAT6B NM_012330.3(KAT6B): c.3962_3963delAA (p.Gln1321Argfs) deletion Likely pathogenic rs863224883 GRCh38 Chromosome 10, 75028786: 75028787
19 KAT6B NM_012330.3(KAT6B): c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) deletion Conflicting interpretations of pathogenicity rs569172957 GRCh38 Chromosome 10, 75022090: 75022101
20 KAT6B NM_012330.3(KAT6B): c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) deletion Conflicting interpretations of pathogenicity rs569172957 GRCh37 Chromosome 10, 76781848: 76781859
21 KAT6B NM_012330.3(KAT6B): c.3664+1G> A single nucleotide variant Pathogenic rs1057516033 GRCh38 Chromosome 10, 75025250: 75025250
22 KAT6B NM_012330.3(KAT6B): c.3664+1G> A single nucleotide variant Pathogenic rs1057516033 GRCh37 Chromosome 10, 76785008: 76785008
23 KAT6B NM_012330.3(KAT6B): c.3216delA (p.Glu1073Argfs) deletion Pathogenic rs1554843829 GRCh37 Chromosome 10, 76781833: 76781833
24 KAT6B NM_012330.3(KAT6B): c.3216delA (p.Glu1073Argfs) deletion Pathogenic rs1554843829 GRCh38 Chromosome 10, 75022075: 75022075
25 KAT6B NM_012330.3(KAT6B): c.4582delA (p.Glu1529Argfs) deletion Pathogenic rs1554845902 GRCh37 Chromosome 10, 76789164: 76789164
26 KAT6B NM_012330.3(KAT6B): c.4582delA (p.Glu1529Argfs) deletion Pathogenic rs1554845902 GRCh38 Chromosome 10, 75029406: 75029406
27 KAT6B NM_001256468.1(KAT6B): c.2707G> T (p.Glu903Ter) single nucleotide variant Likely pathogenic rs751215527 GRCh38 Chromosome 10, 75022115: 75022115
28 KAT6B NM_001256468.1(KAT6B): c.2707G> T (p.Glu903Ter) single nucleotide variant Likely pathogenic rs751215527 GRCh37 Chromosome 10, 76781873: 76781873
29 KAT6B NM_012330.3(KAT6B): c.4553_4554dup (p.Asn1519Argfs) duplication Likely pathogenic rs1554845880 GRCh37 Chromosome 10, 76789135: 76789136
30 KAT6B NM_012330.3(KAT6B): c.4553_4554dup (p.Asn1519Argfs) duplication Likely pathogenic rs1554845880 GRCh38 Chromosome 10, 75029377: 75029378
31 KAT6B NM_012330.3(KAT6B): c.4077_4079delGGA (p.Glu1368del) deletion Conflicting interpretations of pathogenicity GRCh38 Chromosome 10, 75028901: 75028903
32 KAT6B NM_012330.3(KAT6B): c.4077_4079delGGA (p.Glu1368del) deletion Conflicting interpretations of pathogenicity GRCh37 Chromosome 10, 76788659: 76788661
33 KAT6B NM_012330.4(KAT6B): c.5675C> T (p.Pro1892Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 76790257: 76790257
34 KAT6B NM_012330.4(KAT6B): c.5675C> T (p.Pro1892Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 75030499: 75030499
35 KAT6B NM_012330.4(KAT6B): c.2116-9A> G single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 76738973: 76738973
36 KAT6B NM_012330.4(KAT6B): c.2116-9A> G single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 74979215: 74979215
37 KAT6B NM_012330.4(KAT6B): c.5949C> A (p.Asn1983Lys) single nucleotide variant Uncertain significance GRCh37 Chromosome 10, 76790531: 76790531
38 KAT6B NM_012330.4(KAT6B): c.5949C> A (p.Asn1983Lys) single nucleotide variant Uncertain significance GRCh38 Chromosome 10, 75030773: 75030773

Expression for Ohdo Syndrome, Sbbys Variant

Search GEO for disease gene expression data for Ohdo Syndrome, Sbbys Variant.

Pathways for Ohdo Syndrome, Sbbys Variant

GO Terms for Ohdo Syndrome, Sbbys Variant

Biological processes related to Ohdo Syndrome, Sbbys Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.16 FOXL2 KAT6B
2 negative regulation of transcription, DNA-templated GO:0045892 8.96 FOXL2 KAT6B
3 nucleosome assembly GO:0006334 8.32 KAT6B

Molecular functions related to Ohdo Syndrome, Sbbys Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 8.8 FOXL2 HIST2H3PS2 KAT6B

Sources for Ohdo Syndrome, Sbbys Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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