MCID: BCL018
MIFTS: 15

Bcl11a-Related Intellectual Disability

Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Bcl11a-Related Intellectual Disability

MalaCards integrated aliases for Bcl11a-Related Intellectual Disability:

Name: Bcl11a-Related Intellectual Disability 24
Intellectual Developmental Disorder with Persistence of Fetal Hemoglobin 24
Dias-Logan Syndrome 24

Classifications:



Summaries for Bcl11a-Related Intellectual Disability

MalaCards based summary : Bcl11a-Related Intellectual Disability, also known as intellectual developmental disorder with persistence of fetal hemoglobin, is related to chromosome 2p16.1-p15 deletion syndrome and gastroesophageal reflux. An important gene associated with Bcl11a-Related Intellectual Disability is BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A). Affiliated tissues include brain, cortex and eye.

GeneReviews: NBK547048

Related Diseases for Bcl11a-Related Intellectual Disability

Graphical network of the top 20 diseases related to Bcl11a-Related Intellectual Disability:



Diseases related to Bcl11a-Related Intellectual Disability

Symptoms & Phenotypes for Bcl11a-Related Intellectual Disability

Drugs & Therapeutics for Bcl11a-Related Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Bcl11a-Related Intellectual Disability

Genetic Tests for Bcl11a-Related Intellectual Disability

Anatomical Context for Bcl11a-Related Intellectual Disability

MalaCards organs/tissues related to Bcl11a-Related Intellectual Disability:

40
Brain, Cortex, Eye

Publications for Bcl11a-Related Intellectual Disability

Articles related to Bcl11a-Related Intellectual Disability:

(show all 35)
# Title Authors PMID Year
1
Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. 61 24
28589569 2018
2
Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome? 24
29864511 2019
3
Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. 24
29606353 2018
4
ClinVar: improving access to variant interpretations and supporting evidence. 24
29165669 2018
5
BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. 24
28960836 2018
6
Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities. 24
28891213 2017
7
Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex. 24
29217575 2017
8
Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. 24
28573701 2017
9
Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. 24
28717667 2017
10
BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. 24
27453576 2016
11
Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. 24
27699255 2016
12
Timing, rates and spectra of human germline mutation. 24
26656846 2016
13
A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis. 24
26278498 2015
14
Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c. 24
26182416 2015
15
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. 24
25979662 2015
16
The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1/BCL11a. 24
25972180 2015
17
Calcium signaling in neocortical development. 24
25652687 2015
18
Large-scale discovery of novel genetic causes of developmental disorders. 24
25533962 2015
19
Synaptic, transcriptional and chromatin genes disrupted in autism. 24
25363760 2014
20
The contribution of de novo coding mutations to autism spectrum disorder. 24
25363768 2014
21
Coffin-Siris syndrome and related disorders involving components of the BAF (mSWI/SNF) complex: historical review and recent advances using next generation sequencing. 24
25169878 2014
22
De novo microdeletion of BCL11A is associated with severe speech sound disorder. 24
24810580 2014
23
Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. 24
25203062 2014
24
Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. 24
23644491 2013
25
Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. 24
23303641 2013
26
Chromosome 2p15p16.1 microdeletion syndrome: 2.5 Mb deletion in a patient with renal anomalies, intractable seizures and a choledochal cyst. 24
22579565 2012
27
Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. 24
22406401 2012
28
Update on fetal hemoglobin gene regulation in hemoglobinopathies. 24
21157349 2011
29
X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth. 24
20623620 2010
30
A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion. 24
19724011 2009
31
DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. 24
19344873 2009
32
A newly recognised microdeletion syndrome involving 2p15p16.1: narrowing down the critical region by adding another patient detected by genome wide tiling path array comparative genomic hybridisation analysis. 24
18245392 2008
33
Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. 24
16963482 2007
34
ATRX syndrome in a girl with a heterozygous mutation in the ATRX Zn finger domain and a totally skewed X-inactivation pattern. 24
16955409 2006
35
BCL11A-Related Intellectual Disability 61
31556984 2019

Variations for Bcl11a-Related Intellectual Disability

Expression for Bcl11a-Related Intellectual Disability

Search GEO for disease gene expression data for Bcl11a-Related Intellectual Disability.

Pathways for Bcl11a-Related Intellectual Disability

GO Terms for Bcl11a-Related Intellectual Disability

Sources for Bcl11a-Related Intellectual Disability

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....