MCID: BLP010
MIFTS: 20

Blepharophimosis Intellectual Disability Syndromes

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Blepharophimosis Intellectual Disability Syndromes

MalaCards integrated aliases for Blepharophimosis Intellectual Disability Syndromes:

Name: Blepharophimosis Intellectual Disability Syndromes 54
Blepharophimosis Syndrome Ohdo Type 54 74
Young Simpson Syndrome 54 74
Blepharophimosis-Intellectual Disability Syndrome 54
Blepharophimosis Mental Retardation Syndromes 54
Blepharophimosis-Mental Retardation Syndrome 38
Say Barber Biesecker Young-Simpson Syndrome 54
Ohdo Blepharophimosis Syndrome 54
Sbbys Syndrome 54
Ohdo Syndrome 54
Bmrs 54

Classifications:



External Ids:

KEGG 38 H01795

Summaries for Blepharophimosis Intellectual Disability Syndromes

NIH Rare Diseases : 54 Blepharophimosis intellectual disabilitysyndromes refers to a group of syndromes, including Ohdo syndrome and Say Barber Biesecker Young-Simpson syndrome, that are characterized by narrow eye openings (blepharophimosis), drooping of the upper eye lids (ptosis) and intellectual disability. Dr. Ohdo published an article in 1986 describing the first three cases of this syndrome (in a brother, sister, and cousin). Since that time many other case reports describing people with similar (yet variable) features have been reported. The syndromes usually occur sporadically. In most cases the underlying cause can not be determined.

MalaCards based summary : Blepharophimosis Intellectual Disability Syndromes, also known as blepharophimosis syndrome ohdo type, is related to ohdo syndrome, say-barber-biesecker-young-simpson variant and ohdo syndrome, maat-kievit-brunner type, and has symptoms including seizures Affiliated tissues include eye and heart.

Related Diseases for Blepharophimosis Intellectual Disability Syndromes

Graphical network of the top 20 diseases related to Blepharophimosis Intellectual Disability Syndromes:



Diseases related to Blepharophimosis Intellectual Disability Syndromes

Symptoms & Phenotypes for Blepharophimosis Intellectual Disability Syndromes

UMLS symptoms related to Blepharophimosis Intellectual Disability Syndromes:


seizures

Drugs & Therapeutics for Blepharophimosis Intellectual Disability Syndromes

Search Clinical Trials , NIH Clinical Center for Blepharophimosis Intellectual Disability Syndromes

Genetic Tests for Blepharophimosis Intellectual Disability Syndromes

Anatomical Context for Blepharophimosis Intellectual Disability Syndromes

MalaCards organs/tissues related to Blepharophimosis Intellectual Disability Syndromes:

42
Eye, Heart

Publications for Blepharophimosis Intellectual Disability Syndromes

Articles related to Blepharophimosis Intellectual Disability Syndromes:

(show all 16)
# 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
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. ( 29226580 )
2018
3
Autism spectrum disorder in Say-Barber-Biesecker-Young-Simpson syndrome. ( 28710305 )
2017
4
Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome. ( 27452416 )
2017
5
De Novo Mutation of KAT6B Gene Causing Atypical Say-Barber-Biesecker-Young-Simpson Syndrome or Genitopatellar Syndrome. ( 28426343 )
2017
6
Say-Barber-Biesecker-Young-Simpson syndrome and Genitopatellar syndrome: Lumping or splitting? ( 28857140 )
2017
7
De novo KAT6B Mutation Identified with Whole-Exome Sequencing in a Girl with Say-Barber/Biesecker/Young-Simpson Syndrome. ( 28232779 )
2017
8
Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family. ( 28758091 )
2017
9
A recurrent synonymous KAT6B mutation causes Say-Barber-Biesecker/Young-Simpson syndrome by inducing aberrant splicing. ( 26334766 )
2015
10
De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. ( 23436491 )
2013
11
Genome rearrangements in patients with blepharophimosis, mental retardation and hypothyroidism, so-called Young-Simpson syndrome. ( 19659891 )
2009
12
Anesthetic managements for repair of atrial septal defect in a patient with Young-Simpson Syndrome: A case report. ( 30625728 )
2009
13
Congenital hypothyroidism in Young-Simpson syndrome. ( 19189705 )
2008
14
Young-Simpson syndrome (YSS), a variant of del(1)(p36) syndrome? ( 18470891 )
2008
15
Young-Simpson syndrome: further delineation of a distinct syndrome with congenital hypothyroidism, congenital heart defects, facial dysmorphism, and mental retardation. ( 10213038 )
1999
16
Parental consanguinity in the blepharophimosis, heart defect, hypothyroidism, mental retardation syndrome (Young-Simpson syndrome). ( 8474111 )
1993

Variations for Blepharophimosis Intellectual Disability Syndromes

Expression for Blepharophimosis Intellectual Disability Syndromes

Search GEO for disease gene expression data for Blepharophimosis Intellectual Disability Syndromes.

Pathways for Blepharophimosis Intellectual Disability Syndromes

GO Terms for Blepharophimosis Intellectual Disability Syndromes

Sources for Blepharophimosis Intellectual Disability Syndromes

3 CDC
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10 dbSNP
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17 EFO
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35 ICD10 via Orphanet
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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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