MCID: OHD002
MIFTS: 21

Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

MalaCards integrated aliases for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

Name: Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant 43
Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome 43 6
Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type 43
Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type 43
Say-Barber-Biesecker-Young-Simpson Syndrome 43
Ohdo Syndrome, Say-Barber-Biesecker Variant 43
Sbbys Variant of Ohdo Syndrome 43
Ohdo Syndrome, Sbbys Variant 43
Young-Simpson Syndrome 43
Young Simpson Syndrome 71
Bmrs Sbbys 43
Sbbyss 43

Classifications:



External Ids:

UMLS 71 C1863557

Summaries for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

MedlinePlus Genetics : 43 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.Males with the SBBYS variant of Ohdo syndrome typically have undescended testes (cryptorchidism). Females with this condition have normal genitalia.Missing or underdeveloped patellae is the most common skeletal abnormality associated with the SBBYS variant of Ohdo syndrome. Affected individuals also have joint stiffness involving the hips, knees, and ankles that can impair movement. Although joints in the lower body are stiff, joints in the arms and upper body may be unusually loose (lax). Many people with this condition have long thumbs and first (big) toes.The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have weak muscle tone (hypotonia) that leads to breathing and feeding difficulties.The SBBYS variant of Ohdo syndrome is characterized by a mask-like, non-expressive face. Additionally, affected individuals may have distinctive facial features such as prominent cheeks, a broad nasal bridge or a nose with a rounded tip, a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), and abnormalities of the tear (lacrimal) glands. About one-third of affected individuals are born with an opening in the roof of the mouth called a cleft palate. The SBBYS variant of Ohdo syndrome can also be associated with heart defects and dental problems.

MalaCards based summary : Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant, also known as say-barber-biesecker-young-simpson variant of ohdo syndrome, is related to ohdo syndrome, sbbys variant and genitopatellar syndrome. An important gene associated with Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant is DUSP29 (Dual Specificity Phosphatase 29). Affiliated tissues include eye and testes.

Related Diseases for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Graphical network of the top 20 diseases related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:



Diseases related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Symptoms & Phenotypes for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Drugs & Therapeutics for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

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

Genetic Tests for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Anatomical Context for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

MalaCards organs/tissues related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

40
Eye, Testes

Publications for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Articles related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

# Title Authors PMID Year
1
Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum. 6
30353918 2019
2
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. 6
23436491 2013
3
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. 6
22077973 2011
4
Blepharophimosis mental retardation syndrome Say-Barber/Biesecker/Young-Simpson type - new findings with neuroimaging. 6
21344633 2011
5
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. 6
18798845 2008
6
Ohdo-like blepharophimosis syndrome with distinctive facies, neonatal hypotonia, mental retardation and hypoplastic teeth. 6
8055130 1994
7
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? 61
28857140 2019
8
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. 61
30739122 2019
9
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. 61
27696664 2017
10
KAT6B Disorders 61
23236640 2012

Variations for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

ClinVar genetic disease variations for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant:

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

Expression for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Search GEO for disease gene expression data for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant.

Pathways for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

GO Terms for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant

Sources for Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....