SBBYSS
MCID: OHD005
MIFTS: 45

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 57 12 72
Say-Barber-Biesecker-Young-Simpson Syndrome 57 12 58 72 39
Sbbyss 57 12 58 72
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type 12 58 15
Young-Simpson Syndrome 57 72 36
Young Simpson Syndrome 73 44 70
Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type 29 6
Sbbyss Syndrome 57 13
Yss 57 72
Hypothyroidism-Dysmorphism-Postaxial Polydactyly-Intellectual Disability Syndrome 58
Say-Barber-Biesecker Variant of Ohdo Syndrome 72
Sbbys Variant of Ohdo Syndrome 58
Young-Simpson Syndrome; Yss 57

Characteristics:

Orphanet epidemiological data:

58
blepharophimosis-intellectual disability syndrome, sbbys type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant


HPO:

31
ohdo syndrome, sbbys variant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Ohdo Syndrome, Sbbys Variant

KEGG : 36 Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS), also referred to as the Say-Barber-Biesecker variant of Ohdo syndrome, is a rare multiple anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a mask-like facial appearance. A number of individuals with SBBYSS also have thyroid abnormalities and cleft palate. In 1986, Ohdo described two siblings and their cousin with blepharophimosis, ptosis, congenital heart defects, intellectual disability, and hypoplastic teeth. Subsequently, the Young-Simpson syndrome was described. Later the Young-Simpson syndrome was renamed the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome. SBBYSS and genitopatellar syndrome (GPS) [DS:H01794] are clinically similar disorders with some overlapping features. They were found to be caused by de novo truncating sequence variants in the KAT6B (histone acetyltransferase) gene, strongly suggesting that they are allelic disorders.

MalaCards based summary : Ohdo Syndrome, Sbbys Variant, also known as say-barber-biesecker-young-simpson syndrome, is related to genitopatellar syndrome and ohdo syndrome, say-barber-biesecker-young-simpson variant. An important gene associated with Ohdo Syndrome, Sbbys Variant is KAT6B (Lysine Acetyltransferase 6B), and among its related pathways/superpathways are Regulation of TP53 Activity and Chromatin organization. Affiliated tissues include thyroid, tongue and heart, and related phenotypes are intellectual disability and hypothyroidism

Disease Ontology : 12 A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability.

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) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 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 39)
# Related Disease Score Top Affiliating Genes
1 genitopatellar syndrome 32.3 KAT6B DUSP29
2 ohdo syndrome, say-barber-biesecker-young-simpson variant 32.2 KAT6B DUSP29
3 kat6b disorders 31.5 KAT6B DUSP29
4 kat6b-related multiple congenital anomalies syndrome 30.9 KAT6B DUSP29
5 blepharophimosis 30.9 UBE3B KAT6B DUSP29
6 ohdo syndrome 30.6 UBE3B TMTC4 RALGAPA2 MEAF6 KAT6B KAT6A
7 ptosis 30.6 UBE3B KAT6B BRPF1
8 alacrima, achalasia, and mental retardation syndrome 30.4 KAT6B KAT6A DUSP29 BRPF1
9 blepharophimosis-intellectual disability syndrome, sbbys type/genitopatellar overlap syndrome 11.5
10 cleft palate, isolated 10.5
11 autism 10.4
12 dysphasia, familial developmental 10.4
13 autism spectrum disorder 10.4
14 specific language impairment 10.4
15 hypothyroidism 10.4
16 heart septal defect 10.4
17 atrial heart septal defect 10.4
18 growth hormone deficiency 10.4
19 hypotonia 10.4
20 lin-gettig syndrome 10.2 KAT6B DUSP29
21 epicanthus 10.2
22 chromosome 1p36 deletion syndrome 10.2
23 congenital hypothyroidism 10.2
24 dilated cardiomyopathy 10.2
25 familial clubfoot with or without associated lower limb anomalies 10.2 KAT6B DUSP29
26 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2 KAT6B DUSP29
27 cornelia de lange syndrome 5 10.2 TMTC4 KAT6B
28 atrophy of testis 10.1 MEAF6 ING5
29 pylorospasm 10.1 UBE3B KAT6B
30 chromosome 16p13.3 deletion syndrome, proximal 10.0 KAT6B KAT6A
31 methylmalonic acidemia and homocysteinemia, cblx type 10.0 KAT6B CFC1B
32 macroglossia 9.9
33 cryptorchidism, unilateral or bilateral 9.9
34 macular degeneration, age-related, 1 9.9
35 microcephaly 9.9
36 respiratory failure 9.9
37 exostosis 9.9
38 eyelid disease 9.9 UBE3B KAT6B BRPF1
39 syndromic intellectual disability 9.8 UBE3B KAT6A BRPF1

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:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 hypothyroidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000821
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 prominent occiput 58 31 hallmark (90%) Very frequent (99-80%) HP:0000269
5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
6 retrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000278
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
10 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
11 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
13 sloping forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000340
14 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
15 prominent nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000448
16 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
17 short palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0012745
18 hypotonia 31 hallmark (90%) HP:0001252
19 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
20 recurrent respiratory infections 58 31 frequent (33%) Frequent (79-30%) HP:0002205
21 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
22 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
23 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
24 bilateral single transverse palmar creases 58 31 frequent (33%) Frequent (79-30%) HP:0007598
25 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
26 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
27 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
28 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
29 camptodactyly of finger 58 31 frequent (33%) Frequent (79-30%) HP:0100490
30 abnormality of the antihelix 58 31 frequent (33%) Frequent (79-30%) HP:0009738
31 atrioventricular canal defect 58 31 frequent (33%) Frequent (79-30%) HP:0006695
32 thyroid hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0005990
33 bifid uvula 58 31 frequent (33%) Frequent (79-30%) HP:0000193
34 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
35 submucous cleft hard palate 58 31 frequent (33%) Frequent (79-30%) HP:0000176
36 thyroid agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0008191
37 ectopic thyroid 58 31 frequent (33%) Frequent (79-30%) HP:0100028
38 abnormality of the cheek 58 31 frequent (33%) Frequent (79-30%) HP:0004426
39 seizure 31 frequent (33%) HP:0001250
40 neoplasm of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0100648
41 abnormal nasolacrimal system morphology 31 occasional (7.5%) HP:0000614
42 seizures 58 Frequent (79-30%)
43 muscular hypotonia 58 Very frequent (99-80%)
44 depressed nasal bridge 31 HP:0005280
45 intellectual disability, severe 31 HP:0010864
46 microdontia 31 HP:0000691
47 growth delay 58 Frequent (79-30%)
48 dilated cardiomyopathy 31 HP:0001644
49 motor delay 31 HP:0001270
50 generalized hypotonia 31 HP:0001290

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
hypothyroidism

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Head And Neck Nose:
bulbous nose
flat nasal bridge

Neurologic Central Nervous System:
hypotonia
delayed motor milestones
impaired speech
impaired intellectual development, mild to severe

Skeletal Hands:
fifth-finger clinodactyly

Head And Neck Head:
microcephaly
prominent occiput

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 (Updated 05-Apr-2021)

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 Blepharophimosis - Intellectual Disability Syndrome, Sbbys Type 29 KAT6B

Anatomical Context for Ohdo Syndrome, Sbbys Variant

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

40
Thyroid, Tongue, Heart

Publications for Ohdo Syndrome, Sbbys Variant

Articles related to Ohdo Syndrome, Sbbys Variant:

(show all 35)
# Title Authors PMID Year
1
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 6 57 61
22077973 2011
2
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. 6 57
30353918 2019
3
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 57 6
23436491 2013
4
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. 6 57
21344633 2011
5
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. 57 6
18798845 2008
6
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. 6 57
8055130 1994
7
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 57 61
28857140 2019
8
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. 6 61
27696664 2017
9
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants. 6
32424177 2020
10
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. 6
28758091 2017
11
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
12
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. 6
26334766 2015
13
Further delineation of the KAT6B molecular and phenotypic spectrum. 6
25424711 2015
14
Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings. 6
25937001 2015
15
Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders. 6
25473036 2014
16
Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? 57
18470891 2008
17
Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. 57
10602125 2000
18
Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. 57
10213038 1999
19
A Japanese boy with Young-Simpson syndrome. 57
9316295 1997
20
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). 57
8474111 1993
21
Unknown syndrome: abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient. 57
2614801 1989
22
Unknown syndrome: abnormal facies, hypothyroidism, and severe retardation: a second patient. 57
3172145 1988
23
Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. 57
3430551 1987
24
KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders. 61
32391291 2020
25
[A case of SBBYSS syndrome caused by KAT6B gene variant]. 61
31302922 2019
26
Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. 61
30569622 2019
27
A novel truncating variant within exon 7 of KAT6B associated with features of both Say-Barber-Bieseker-Young-Simpson syndrome and genitopatellar syndrome: Further evidence of a continuum in the clinical spectrum of KAT6B-related disorders. 61
29226580 2018
28
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. 61
28710305 2017
29
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. 61
28426343 2017
30
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. 61
27452416 2017
31
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome. 61
28232779 2017
32
A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes. 61
26370006 2015
33
An individual with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and additional features expands the phenotype associated with mutations in KAT6B. 61
24458743 2014
34
KAT6B Disorders 61
23236640 2012
35
The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. 61
22715153 2012

Variations for Ohdo Syndrome, Sbbys Variant

ClinVar genetic disease variations for Ohdo Syndrome, Sbbys Variant:

6 (show all 39)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4405dup (p.Ser1469fs) Duplication Pathogenic 30525 rs199470479 GRCh37: 10:76788986-76788987
GRCh38: 10:75029228-75029229
2 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5370_5373dup (p.Ile1792fs) Duplication Pathogenic 30526 rs199470483 GRCh37: 10:76789950-76789951
GRCh38: 10:75030192-75030193
3 KAT6B NM_012330.4(KAT6B):c.3018del (p.Glu1007fs) Deletion Pathogenic 30527 rs199470468 GRCh37: 10:76781038-76781038
GRCh38: 10:75021280-75021280
4 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4069G>T (p.Glu1357Ter) SNV Pathogenic 30528 rs199470476 GRCh37: 10:76788651-76788651
GRCh38: 10:75028893-75028893
5 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5064_5071delinsCACA (p.Met1690fs) Indel Pathogenic 50356 rs387907364 GRCh37: 10:76789646-76789653
GRCh38: 10:75029888-75029895
6 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5389C>T (p.Arg1797Ter) SNV Pathogenic 50357 rs199470484 GRCh37: 10:76789971-76789971
GRCh38: 10:75030213-75030213
7 KAT6B NM_012330.4(KAT6B):c.3664+1G>A SNV Pathogenic 369663 rs1057516033 GRCh37: 10:76785008-76785008
GRCh38: 10:75025250-75025250
8 KAT6B NM_012330.4(KAT6B):c.3216del (p.Glu1073fs) Deletion Pathogenic 438296 rs1554843829 GRCh37: 10:76781832-76781832
GRCh38: 10:75022074-75022074
9 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5167dup (p.Gln1723fs) Duplication Pathogenic 637031 rs1589845386 GRCh37: 10:76789746-76789747
GRCh38: 10:75029988-75029989
10 KAT6B NM_012330.4(KAT6B):c.3606_3609del (p.Thr1203fs) Deletion Pathogenic 689768 rs1589832003 GRCh37: 10:76784946-76784949
GRCh38: 10:75025188-75025191
11 KAT6B NM_012330.4(KAT6B):c.2299C>T (p.His767Tyr) SNV Pathogenic 828179 rs1589750251 GRCh37: 10:76741612-76741612
GRCh38: 10:74981854-74981854
12 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4298_4304delinsTC (p.His1433fs) Indel Pathogenic 830050 rs1589842816 GRCh37: 10:76788880-76788886
GRCh38: 10:75029122-75029128
13 KAT6B NM_012330.4(KAT6B):c.3022-1G>A SNV Pathogenic 931557 GRCh37: 10:76781638-76781638
GRCh38: 10:75021880-75021880
14 KAT6B NM_012330.4(KAT6B):c.2598G>A (p.Arg866=) SNV Pathogenic 976119 GRCh37: 10:76748839-76748839
GRCh38: 10:74989081-74989081
15 KAT6B NM_012330.4(KAT6B):c.847-2A>G SNV Pathogenic 977071 GRCh37: 10:76729776-76729776
GRCh38: 10:74970018-74970018
16 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4584del (p.Glu1529fs) Deletion Pathogenic 488535 rs1554845902 GRCh37: 10:76789164-76789164
GRCh38: 10:75029406-75029406
17 KAT6B NM_012330.4(KAT6B):c.3041_3042del (p.Gln1014fs) Deletion Pathogenic 807617 rs1589824355 GRCh37: 10:76781658-76781659
GRCh38: 10:75021900-75021901
18 KAT6B NM_012330.4(KAT6B):c.3477_3480dup (p.Asp1161delinsLeuTer) Duplication Pathogenic 807618 rs1589831585 GRCh37: 10:76784819-76784820
GRCh38: 10:75025061-75025062
19 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
20 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5201_5210dup (p.Gln1737fs) Duplication Pathogenic 39002 rs199470482 GRCh37: 10:76789773-76789774
GRCh38: 10:75030015-75030016
21 KAT6B NM_012330.4(KAT6B):c.3147G>A (p.Pro1049=) SNV Pathogenic 279815 rs886041207 GRCh37: 10:76781764-76781764
GRCh38: 10:75022006-75022006
22 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic 523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
23 KAT6B NM_012330.4(KAT6B):c.3172C>T (p.Arg1058Ter) SNV Pathogenic 523902 rs1554843815 GRCh37: 10:76781789-76781789
GRCh38: 10:75022031-75022031
24 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4203_4204CT[1] (p.Ser1402fs) Microsatellite Pathogenic 39001 rs199470477 GRCh37: 10:76788785-76788786
GRCh38: 10:75029027-75029028
25 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4089_4092del (p.Glu1364fs) Deletion Likely pathogenic 979052 GRCh37: 10:76788671-76788674
GRCh38: 10:75028913-75028916
26 KAT6B NM_012330.4(KAT6B):c.3256G>T (p.Glu1086Ter) SNV Likely pathogenic 559862 rs751215527 GRCh37: 10:76781873-76781873
GRCh38: 10:75022115-75022115
27 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4554_4555dup (p.Asn1519fs) Duplication Likely pathogenic 559863 rs1554845880 GRCh37: 10:76789134-76789135
GRCh38: 10:75029376-75029377
28 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3962_3963del (p.Gln1321fs) Deletion Likely pathogenic 216946 rs863224883 GRCh37: 10:76788544-76788545
GRCh38: 10:75028786-75028787
29 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5675C>T (p.Pro1892Leu) SNV Uncertain significance 592150 rs1037774698 GRCh37: 10:76790257-76790257
GRCh38: 10:75030499-75030499
30 KAT6B NM_012330.4(KAT6B):c.2116-9A>G SNV Uncertain significance 625964 rs747646395 GRCh37: 10:76738973-76738973
GRCh38: 10:74979215-74979215
31 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5949C>A (p.Asn1983Lys) SNV Uncertain significance 625965 rs745470061 GRCh37: 10:76790531-76790531
GRCh38: 10:75030773-75030773
32 KAT6B NM_012330.4(KAT6B):c.390G>T (p.Glu130Asp) SNV Uncertain significance 931621 GRCh37: 10:76603005-76603005
GRCh38: 10:74843247-74843247
33 KAT6B NM_012330.4(KAT6B):c.2839A>G (p.Met947Val) SNV Uncertain significance 931201 GRCh37: 10:76780549-76780549
GRCh38: 10:75020791-75020791
34 DUSP29 , KAT6B NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser) SNV Uncertain significance 988726 GRCh37: 10:76788250-76788250
GRCh38: 10:75028492-75028492
35 KAT6B NM_012330.4(KAT6B):c.1927A>T (p.Met643Leu) SNV Uncertain significance 300869 rs778899637 GRCh37: 10:76736022-76736022
GRCh38: 10:74976264-74976264
36 KAT6B NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) Deletion Uncertain significance 260236 rs569172957 GRCh37: 10:76781837-76781848
GRCh38: 10:75022079-75022090
37 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4065_4067GGA[4] (p.Glu1368del) Microsatellite Uncertain significance 561618 rs367634881 GRCh37: 10:76788645-76788647
GRCh38: 10:75028887-75028889
38 DUSP29 , KAT6B NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) SNV Likely benign 300887 rs542036896 GRCh37: 10:76788618-76788618
GRCh38: 10:75028860-75028860
39 KAT6B NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) SNV Benign 300867 rs146395020 GRCh37: 10:76735758-76735758
GRCh38: 10:74976000-74976000

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

Cellular components related to Ohdo Syndrome, Sbbys Variant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromosome GO:0005694 9.46 MEAF6 ING5 BRPF1 BRD1
2 histone acetyltransferase complex GO:0000123 9.13 MEAF6 ING5 BRPF1
3 MOZ/MORF histone acetyltransferase complex GO:0070776 9.1 MEAF6 KAT6B KAT6A ING5 BRPF1 BRD1

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 9.73 KAT6B KAT6A ING5 BRPF1
2 chromatin organization GO:0006325 9.73 MEAF6 KAT6B KAT6A ING5 BRPF1 BRD1
3 regulation of signal transduction by p53 class mediator GO:1901796 9.67 MEAF6 KAT6A ING5 BRPF1
4 histone acetylation GO:0016573 9.62 MEAF6 KAT6B KAT6A ING5
5 protein acetylation GO:0006473 9.4 KAT6A ING5
6 histone H3 acetylation GO:0043966 9.35 KAT6B KAT6A ING5 BRPF1 BRD1
7 histone H3-K23 acetylation GO:0043972 9.33 MEAF6 BRPF1 BRD1
8 histone H3-K14 acetylation GO:0044154 8.92 MEAF6 ING5 BRPF1 BRD1

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

# Name GO ID Score Top Affiliating Genes
1 histone acetyltransferase activity GO:0004402 9.26 KAT6B KAT6A
2 histone binding GO:0042393 9.26 KAT6B KAT6A BRPF1 BRD1
3 acetyltransferase activity GO:0016407 9.16 KAT6B KAT6A
4 histone acetyltransferase activity (H3-K23 specific) GO:0043994 8.8 MEAF6 BRPF1 BRD1

Sources for Ohdo Syndrome, Sbbys Variant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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