Bcl11a-Related Intellectual Disability disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: BCL018 MIFTS: 15	Bcl11a-Related Intellectual Disability Categories: Blood diseases, Eye diseases, Fetal diseases, Gastrointestinal diseases, Mental diseases, Neuronal diseases, Rare diseases
Genes Tissues Related diseases Publications Expand all tables

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Blood diseases Neuronal diseases Eye diseases Gastrointestinal diseases Mental diseases

See all MalaCards categories (disease lists)

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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 alacrima, achalasia, and mental retardation syndrome. An important gene associated with Bcl11a-Related Intellectual Disability is BCL11A (BAF Chromatin Remodeling Complex Subunit BCL11A). Affiliated tissues include brain and cortex.

GeneReviews: NBK547048

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Related Diseases for Bcl11a-Related Intellectual Disability

Diseases in the Rare Intellectual Disability family:

Bcl11a-Related Intellectual Disability	Dyrk1a-Related Intellectual Disability Syndrome
Syngap1-Related Intellectual Disability	Trio-Related Intellectual Disability
Wac-Related Intellectual Disability	Wdr26-Related Intellectual Disability
Acsl4-Related Intellectual Disability	Arx-Related Intellectual Disability
Autosomal Dominant Intellectual Disability 30	Autosomal Dominant Intellectual Disability 40
Autosomal Dominant Intellectual Disability 49	Autosomal Recessive Intellectual Disability 58
Ddx3x-Related Intellectual Disability	Hivep2-Related Intellectual Disability
Cask-Related Intellectual Disability	Ppp2r5d-Related Intellectual Disability
Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation	Sin3a-Related Intellectual Disability Syndrome

Diseases related to Bcl11a-Related Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 13)

#	Related Disease	Score
1	chromosome 2p16.1-p15 deletion syndrome	11.5
2	alacrima, achalasia, and mental retardation syndrome	10.4
3	intellectual developmental disorder with persistence of fetal hemoglobin	10.4
4	gastroesophageal reflux	10.3
5	strabismus	10.3
6	autism spectrum disorder	10.3
7	scoliosis	10.3
8	microcephaly	10.3
9	constipation	10.3
10	lipid metabolism disorder	10.3
11	mechanical strabismus	10.3
12	hypotonia	10.3
13	seizure disorder	10.3

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

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Symptoms & Phenotypes for Bcl11a-Related Intellectual Disability

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Drugs & Therapeutics for Bcl11a-Related Intellectual Disability

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

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Genetic Tests for Bcl11a-Related Intellectual Disability

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Anatomical Context for Bcl11a-Related Intellectual Disability

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

⁴⁰

Brain, Cortex

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Publications for Bcl11a-Related Intellectual Disability

Articles related to Bcl11a-Related Intellectual Disability:

(show all 36)

#	Title	Authors	PMID	Year
1	Identification of novel BCL11A variants in patients with epileptic encephalopathy: Expanding the phenotypic spectrum. ⁶¹ ²⁴	Yoshida M...Chiyonobu T	28589569	2018
2	Chromosome 2p15-p16.1 microduplication in a boy with congenital anomalies: Is it a distinctive syndrome? ²⁴	Pavone P...Ruggieri M	29864511	2019
3	Direct Promoter Repression by BCL11A Controls the Fetal to Adult Hemoglobin Switch. ²⁴	Liu N...Orkin SH	29606353	2018
4	BCL11A frameshift mutation associated with dyspraxia and hypotonia affecting the fine, gross, oral, and speech motor systems. ²⁴	Soblet J...Deconinck N	28960836	2018
5	ClinVar: improving access to variant interpretations and supporting evidence. ²⁴	Landrum MJ...Maglott DR	29165669	2018
6	Identification of novel mutations in the HbF repressor gene BCL11A in patients with autism and intelligence disabilities. ²⁴	Cai T...Liu PP	28891213	2017
7	Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex. ²⁴	Nowakowski TJ...Kriegstein AR	29217575	2017
8	Molecular and clinical delineation of 2p15p16.1 microdeletion syndrome. ²⁴	Levy J...Tabet AC	28573701	2017
9	Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome. ²⁴	Shimbo H...Kurosawa K	28717667	2017
10	BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. ²⁴	Dias C...Logan DW	27453576	2016
11	Identifying candidate genes for 2p15p16.1 microdeletion syndrome using clinical, genomic, and functional analysis. ²⁴	Bagheri H...Rajcan-Separovic E	27699255	2016
12	Timing, rates and spectra of human germline mutation. ²⁴	Rahbari R...Hurles ME	26656846	2016
13	A de-novo interstitial microduplication involving 2p16.1-p15 and mirroring 2p16.1-p15 microdeletion syndrome: Clinical and molecular analysis. ²⁴	Mimouni-Bloch A...Basel-Vanagaite L	26278498	2015
14	Bcl11a (Ctip1) Controls Migration of Cortical Projection Neurons through Regulation of Sema3c. ²⁴	Wiegreffe C...Britsch S	26182416	2015
15	Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11A. ²⁴	Balci TB...Dyment DA	25979662	2015
16	The Specification of Cortical Subcerebral Projection Neurons Depends on the Direct Repression of TBR1 by CTIP1/BCL11a. ²⁴	Canovas J...Kukuljan M	25972180	2015
17	Calcium signaling in neocortical development. ²⁴	Uhlen P...Kanatani S	25652687	2015
18	Large-scale discovery of novel genetic causes of developmental disorders. ²⁴	Deciphering Developmental Disorders Study	25533962	2015
19	Synaptic, transcriptional and chromatin genes disrupted in autism. ²⁴	De Rubeis S...Buxbaum JD	25363760	2014
20	The contribution of de novo coding mutations to autism spectrum disorder. ²⁴	Iossifov I...Wigler M	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	Kosho T...Carey JC	25169878	2014
22	De novo microdeletion of BCL11A is associated with severe speech sound disorder. ²⁴	Peter B...Raskind W	24810580	2014
23	Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. ²⁴	Jorgez CJ...Lamb DJ	25203062	2014
24	Proteomic and bioinformatic analysis of mammalian SWI/SNF complexes identifies extensive roles in human malignancy. ²⁴	Kadoch C...Crabtree GR	23644491	2013
25	Complex craniosynostosis is associated with the 2p15p16.1 microdeletion syndrome. ²⁴	Florisson JM...Verkerk AJ	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	Hucthagowder V...Kulkarni S	22579565	2012
27	Interstitial deletion of chromosome 2p15-16.1: report of two patients and critical review of current genotype-phenotype correlation. ²⁴	Piccione M...Corsello G	22406401	2012
28	Update on fetal hemoglobin gene regulation in hemoglobinopathies. ²⁴	Bauer DE...Orkin SH	21157349	2011
29	X-linked mental retardation gene CASK interacts with Bcl11A/CTIP1 and regulates axon branching and outgrowth. ²⁴	Kuo TY...Hsueh YP	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	Liang JS...Yamamoto T	19724011	2009
31	DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources. ²⁴	Firth HV...Carter NP	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	de Leeuw N...Knoers NV	18245392	2008
33	Clinical and molecular cytogenetic characterisation of a newly recognised microdeletion syndrome involving 2p15-16.1. ²⁴	Rajcan-Separovic E...Lewis ME	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	Badens C...Edery P	16955409	2006
35	A missense variant, p.(Ile269Asn), in MC4R as a secondary finding in a child with BCL11A-related intellectual disability. ⁶¹	Beleford DT...Slavotinek AM	32534219	2020
36	BCL11A-Related Intellectual Disability ⁶¹	Peron A...Dias C	31556984	2019

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Genes for Bcl11a-Related Intellectual Disability

Genes related to Bcl11a-Related Intellectual Disability (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BCL11A	BAF Chromatin Remodeling Complex Subunit BCL11A	Protein Coding	6.84	GeneCards inferred via : Publications (show sections)

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Variations for Bcl11a-Related Intellectual Disability

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Expression for Bcl11a-Related Intellectual Disability

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

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Pathways for Bcl11a-Related Intellectual Disability

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GO Terms for Bcl11a-Related Intellectual Disability

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