MCID: OHD005
MIFTS: 34

Ohdo Syndrome, Sbbys Variant

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

Aliases & Classifications for Ohdo Syndrome, Sbbys Variant

MalaCards integrated aliases for Ohdo Syndrome, Sbbys Variant:

Name: Ohdo Syndrome, Sbbys Variant 57 12 75
Say-Barber-Biesecker-Young-Simpson Syndrome 57 12 59 75 40
Young Simpson Syndrome 76 29 6 44 73
Sbbyss 57 12 59 75
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type 12 59 15
Young-Simpson Syndrome 57 75 37
Sbbyss Syndrome 57 13
Yss 57 75
Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome 59
Say-Barber-Biesecker Variant of Ohdo Syndrome 75
Young-Simpson Syndrome; Yss 57

Characteristics:

Orphanet epidemiological data:

59
blepharophimosis-intellectual disability syndrome, sbbys type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


Classifications:



Summaries for Ohdo Syndrome, Sbbys Variant

OMIM : 57 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 intellectual disability syndromes. 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

UniProtKB/Swiss-Prot : 75 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 ohdo syndrome 29.8 FOXL2 KAT6B
2 blepharophimosis intellectual disability syndromes 12.5
3 ohdo syndrome, say-barber-biesecker-young-simpson variant 11.5
4 genitopatellar syndrome 11.2
5 eyelid disease 9.3 FOXL2 KAT6B
6 blepharophimosis 9.2 FOXL2 KAT6B
7 epicanthus 9.0 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly angulated ears

Head And Neck Head:
microcephaly
prominent occiput

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Eyes:
blepharophimosis
epicanthus inversus

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

Head And Neck Nose:
bulbous nose
flat nasal bridge

Cardiovascular Heart:
dilated cardiomyopathy
structural cardiac defects

Head And Neck Teeth:
small teeth
pointed teeth


Clinical features from OMIM:

603736

Human phenotypes related to Ohdo Syndrome, Sbbys Variant:

59 32 (show all 44)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 hypothyroidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000821
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 seizures 59 32 frequent (33%) Frequent (79-30%) HP:0001250
5 muscular hypotonia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001252
6 failure to thrive 59 32 frequent (33%) Frequent (79-30%) HP:0001508
7 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
8 recurrent respiratory infections 59 32 frequent (33%) Frequent (79-30%) HP:0002205
9 microcephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000252
10 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
11 feeding difficulties 59 32 frequent (33%) Frequent (79-30%) HP:0011968
12 retrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000278
13 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
14 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
15 prominent occiput 59 32 hallmark (90%) Very frequent (99-80%) HP:0000269
16 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
17 specific learning disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001328
18 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
19 clinodactyly of the 5th finger 59 32 frequent (33%) Frequent (79-30%) HP:0004209
20 abnormality of the antihelix 59 32 frequent (33%) Frequent (79-30%) HP:0009738
21 bilateral single transverse palmar creases 59 32 frequent (33%) Frequent (79-30%) HP:0007598
22 polyhydramnios 59 32 frequent (33%) Frequent (79-30%) HP:0001561
23 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
24 ventricular septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001629
25 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
26 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
27 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
28 long nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003189
29 sloping forehead 59 32 hallmark (90%) Very frequent (99-80%) HP:0000340
30 atrioventricular canal defect 59 32 frequent (33%) Frequent (79-30%) HP:0006695
31 bifid uvula 59 32 frequent (33%) Frequent (79-30%) HP:0000193
32 thyroid hypoplasia 59 32 frequent (33%) Frequent (79-30%) HP:0005990
33 prominent nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000448
34 submucous cleft hard palate 59 32 frequent (33%) Frequent (79-30%) HP:0000176
35 short palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0012745
36 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
37 neoplasm of the tongue 59 32 occasional (7.5%) Occasional (29-5%) HP:0100648
38 thyroid agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0008191
39 abnormality of the cheek 59 32 frequent (33%) Frequent (79-30%) HP:0004426
40 ectopic thyroid 59 32 frequent (33%) Frequent (79-30%) HP:0100028
41 growth delay 59 Frequent (79-30%)
42 abnormality of the nasolacrimal system 59 Occasional (29-5%)
43 thyroid dysgenesis 59 Frequent (79-30%)
44 abnormal nasolacrimal system morphology 32 occasional (7.5%) HP:0000614

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 29 KAT6B

Anatomical Context for Ohdo Syndrome, Sbbys Variant

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

41
Thyroid, Heart, Tongue

Publications for Ohdo Syndrome, Sbbys Variant

Articles related to Ohdo Syndrome, Sbbys Variant:

# Title Authors Year
1
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: lumping or splitting? ( 28857140 )
2017
2
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
3
Identifying the <i>KAT6B</i> Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. ( 28758091 )
2017
4
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2016
5
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. ( 26334766 )
2015
6
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. ( 23436491 )
2013

Variations for Ohdo Syndrome, Sbbys Variant

ClinVar genetic disease variations for Ohdo Syndrome, Sbbys Variant:

6
(show all 26)
# 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 rs886038589 GRCh38 Chromosome 10, 75022090: 75022101
20 KAT6B NM_012330.3(KAT6B): c.3231_3242delCGAGGAGGAGGA (p.Asp1077_Glu1080del) deletion Conflicting interpretations of pathogenicity rs886038589 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 GRCh37 Chromosome 10, 76781833: 76781833
24 KAT6B NM_012330.3(KAT6B): c.3216delA (p.Glu1073Argfs) deletion Pathogenic GRCh38 Chromosome 10, 75022075: 75022075
25 KAT6B NM_012330.3(KAT6B): c.4582delA (p.Glu1529Argfs) deletion Pathogenic GRCh37 Chromosome 10, 76789164: 76789164
26 KAT6B NM_012330.3(KAT6B): c.4582delA (p.Glu1529Argfs) deletion Pathogenic GRCh38 Chromosome 10, 75029406: 75029406

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 by RNA polymerase II 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 Ohdo Syndrome, Sbbys Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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