X-linked mental retardation

Common Name(s)

X-linked mental retardation

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "X-linked mental retardation" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "X-linked mental retardation" returned 116 free, full-text research articles on human participants. First 3 results:

Marfanoid features and X-linked mental retardation associated with craniofacial abnormalities: the Lujan-Fryns syndrome.
 

Author(s): Paula Macedo Dieckmann, Lara Carneiro de Lucena, Lívia Almeida Dutra, José Luiz Pedroso, Orlando G P Barsottini

Journal: Arq Neuropsiquiatr. 2013 Jan;71(1):68-9.

 

Last Updated: 22 Jan 2013

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Alpha thalassemia/mental retardation syndrome X-linked gene product ATRX is required for proper replication restart and cellular resistance to replication stress.
 

Author(s): Justin Wai-Chung Leung, Gargi Ghosal, Wenqi Wang, Xi Shen, Jiadong Wang, Lei Li, Junjie Chen

Journal: J. Biol. Chem.. 2013 Mar;288(9):6342-50.

 

Alpha thalassemia/mental retardation syndrome X-linked (ATRX) is a member of the SWI/SNF protein family of DNA-dependent ATPases. It functions as a chromatin remodeler and is classified as an SNF2-like helicase. Here, we showed somatic knock-out of ATRX displayed perturbed S-phase ...

Last Updated: 4 Mar 2013

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Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation.
 

Author(s): Chun-Yu Chen, Ming-Shian Tsai, Chien-Yu Lin, I-Shing Yu, You-Tzung Chen, Shu-Rung Lin, Liang-Wen Juan, Yuh-Tarng Chen, Hua-Man Hsu, Li-Jen Lee, Shu-Wha Lin

Journal: Hum. Mol. Genet.. 2012 Oct;21(19):4270-85.

 

Mutation in CUL4B, which encodes a scaffold protein of the E3 ubiquitin ligase complex, has been found in patients with X-linked mental retardation (XLMR). However, early deletion of Cul4b in mice causes prenatal lethality, which has frustrated attempts to characterize the phenotypes ...

Last Updated: 14 Sep 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "X-linked mental retardation" returned 13 free, full-text review articles on human participants. First 3 results:

X linked mental retardation.
 

Author(s): Imen Rejeb, Lamia Ben Jemaa, Habiba Chaabouni

Journal: Tunis Med. 2009 May;87(5):311-8.

 

Mental retardation (MR) is a group of heterogeneous clinical conditions. There are more than 900 genetic disorders associated with MR and it affects around 3% of the general population. Many MR conditions described are syndromic, fragile X syndrome being the most common clinical entity ...

Last Updated: 20 Nov 2009

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Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus).
 

Author(s): Griet Van Buggenhout, Jean-Pierre Fryns

Journal:

 

The Lujan-Fryns syndrome or X-linked mental retardation with marfanoid habitus syndrome is a syndromal X-linked form of mental retardation, affecting predominantly males. The prevalence is not known for the general population. The syndrome is associated with mild to moderate mental ...

Last Updated: 10 Aug 2006

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Alpha thalassaemia-mental retardation, X linked.
 

Author(s): Richard Gibbons

Journal:

 

X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal. So far, 168 patients have been ...

Last Updated: 25 May 2006

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Exercise Study of Function and Pathology for Women With X-linked Adrenoleukodystrophy
 

Status: Recruiting

Condition Summary: X-linked Adrenoleukodystrophy

 

Last Updated: 25 Sep 2013

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A Phase 2/3 Study of the Efficacy and Safety of Hematopoietic Stem Cells Transduced With Lenti-D Lentiviral Vector for the Treatment of Childhood Cerebral Adrenoleukodystrophy (CCALD)
 

Status: Recruiting

Condition Summary: Childhood Cerebral Adrenoleukodystrophy; (X-linked Adrenoleukodystrophy Cerebral Childhood)

 

Last Updated: 18 Jul 2014

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Study of Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome

 

Last Updated: 20 Aug 2014

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