Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: OHD002 MIFTS: 16	Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant Categories: Mental diseases, Neuronal diseases
Tissues Related diseases Publications Expand all tables

Sources

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 ²⁵

Blepharophimosis and Mental Retardation Syndrome, Say-Barber/biesecker/young-Simpson Type ²⁵

Blepharophimosis-Intellectual Deficit Syndrome, Say-Barber/biesecker/young-Simpson Type ²⁵

Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome ²⁵

Say-Barber-Biesecker-Young-Simpson Syndrome ²⁵

Ohdo Syndrome, Say-Barber-Biesecker Variant ²⁵

Sbbys Variant of Ohdo Syndrome ²⁵

Ohdo Syndrome, Sbbys Variant ²⁵

Young-Simpson Syndrome ²⁵

Young Simpson Syndrome ⁷¹

Bmrs Sbbys ²⁵

Sbbyss ²⁵

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

UMLS ⁷¹ C1863557

Sources

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

Genetics Home Reference : ²⁵ 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 blepharophimosis and mental retardation syndrome, say-barber/biesecker/young-simpson type, is related to ohdo syndrome, sbbys variant and ohdo syndrome. Affiliated tissues include heart, eye and testes.

Sources

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

Diseases related to Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)

#	Related Disease	Score
1	ohdo syndrome, sbbys variant	12.9
2	ohdo syndrome	12.8
3	genitopatellar syndrome	11.9
4	alacrima, achalasia, and mental retardation syndrome	10.9
5	blepharophimosis	10.8
6	ptosis	10.8
7	laryngomalacia	10.7
8	otitis media	10.7
9	polydactyly, postaxial, type a1	10.7
10	polydactyly	10.7
11	cholesteatoma of middle ear	10.7
12	autism	10.6
13	dysphasia, familial developmental	10.6
14	ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	10.6
15	autism spectrum disorder	10.6
16	specific language impairment	10.6
17	hypothyroidism	10.6
18	heart septal defect	10.6
19	atrial heart septal defect	10.6
20	kat6b-related disorders	10.6
21	growth hormone deficiency	10.6
22	hypotonia	10.6
23	congenital hypothyroidism	10.4
24	epicanthus	10.0
25	macroglossia	10.0
26	cryptorchidism, unilateral or bilateral	10.0
27	macular degeneration, age-related, 1	10.0
28	chromosome 1p36 deletion syndrome	10.0
29	microcephaly	10.0
30	respiratory failure	10.0
31	dilated cardiomyopathy	10.0
32	exostosis	10.0

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

Sources

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

Sources

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

Sources

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

Sources

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

Heart, Eye, Testes

Sources

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

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

(show all 29)

#	Title	Authors	PMID	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. ⁶¹	Mendez R...Rittler M	30921092	2020
2	[A case of SBBYSS syndrome caused by KAT6B gene variant]. ⁶¹	Lyu N...Li D	31302922	2019
3	De novo KAT6B mutation, Say-Barber-Biesecker-Young-Simpson syndrome, and specific language impairment. ⁶¹	Fernandez-Mayoralas DM...Fernandez-Jaen A	31326210	2019
4	Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? ⁶¹	Lonardo F...Scarano G	28857140	2019
5	Novel truncating variants expand the phenotypic spectrum of KAT6B-related disorders. ⁶¹	Brea-Fernandez A...Carracedo A	30569622	2019
6	KAT6B-related disorder in a patient with a novel frameshift variant (c.3925dup). ⁶¹	Hamaguchi Y...Dateki S	31871732	2019
7	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	Marangi G...Zollino M	29226580	2018
8	Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. ⁶¹	Merritt J...LeGrow TL	28710305	2017
9	Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. ⁶¹	Kim YR...Kim HJ	28758091	2017
10	De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ⁶¹	Li G...Wang J	28426343	2017
11	Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ⁶¹	Radvanszky J...Szemes T	27452416	2017
12	De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome. ⁶¹	Lundsgaard M...Petersen MB	28232779	2017
13	A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. ⁶¹	Yilmaz R...Borck G	26334766	2015
14	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	Vlckova M...Sedlacek Z	26370006	2015
15	De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. ⁶¹	Szakszon K...Borck G	23436491	2013
16	The KAT6B-related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms. ⁶¹	Campeau PM...Lee BH	22715153	2012
17	Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. ⁶¹	Clayton-Smith J...Black G	22077973	2011
18	The difficult nosology of blepharophimosis-mental retardation syndromes: report on two siblings. ⁶¹	Dentici ML...Dallapiccola B	21567902	2011
19	Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. ⁶¹	Brancati F...Dallapiccola B	19659891	2009
20	Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report. ⁶¹	Kim SH...Yoon TG	30625728	2009
21	Congenital hypothyroidism in Young-Simpson syndrome. ⁶¹	Stagi S...Chiarelli F	19189705	2008
22	Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? ⁶¹	Robinson DM...Fong CT	18470891	2008
23	Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. ⁶¹	Verloes A...Bitoun P	16700052	2006
24	[Anesthetic management of a patient with Young-Simpson syndrome]. ⁶¹	Manaka S...Tajiri O	12481459	2002
25	[Young-Simpson syndrome]. ⁶¹	Masuno M	11529049	2001
26	Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis. ⁶¹	Kondoh T...Masuno M	10602125	2000
27	Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. ⁶¹	Masuno M...Kuroki Y	10213038	1999
28	A Japanese boy with Young-Simpson syndrome. ⁶¹	Nakamura T...Noma S	9316295	1997
29	Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). ⁶¹	Bonthron DT...Barr DG	8474111	1993

Sources

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

Sources

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

Sources

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.

Sources

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

Sources

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

Sources

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

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NIH Rare Diseases

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ Wikipedia