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Rubinstein-Taybi Syndrome (Syndrome, Rubinstein-Taybi)

A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower lip, agenesis of corpus callosum, large foramen magnum, keloid formation, pulmonary stenosis, vertebral anomalies, chest wall anomalies, sleep apnea, and megacolon. The disease has an autosomal dominant pattern of inheritance and is associated with deletions of the short arm of chromosome 16 (16p13.3).
Also Known As:
Syndrome, Rubinstein-Taybi; Broad Thumb Hallux Syndrome; Rubinstein Syndrome; Broad Thumb-Hallux Syndromes; Rubinstein Taybi Syndrome; Syndrome, Broad Thumb-Hallux; Syndrome, Rubinstein; Syndromes, Broad Thumb-Hallux; Broad Thumb-Hallux Syndrome
Networked: 94 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Rett Syndrome (Rett's Disorder)
2. Coffin-Lowry Syndrome (Syndrome, Coffin-Lowry)
3. Mental Retardation (Idiocy)
4. Huntington Disease (Huntington's Disease)
5. Sotos Syndrome

Experts

1. Barco, Angel: 3 articles (01/2014 - 06/2004)
2. Roelfsema, Jeroen H: 3 articles (04/2006 - 02/2003)
3. Grandone, Anna: 2 articles (09/2015 - 01/2013)
4. Marzuillo, Pierluigi: 2 articles (09/2015 - 01/2013)
5. Perrone, Laura: 2 articles (09/2015 - 01/2013)
6. Albrecht, Beate: 2 articles (04/2014 - 02/2012)
7. Wieczorek, Dagmar: 2 articles (04/2014 - 02/2012)
8. Wang, Jing: 2 articles (01/2014 - 01/2010)
9. Kaplan, David R: 2 articles (01/2014 - 01/2010)
10. Miller, Freda D: 2 articles (01/2014 - 01/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Rubinstein-Taybi Syndrome:
1. sevoflurane (Ultane)FDA LinkGeneric
2. Codon (Codons)IBA
3. Patau syndromeIBA
4. tebufenozide (Mimic)IBA
5. CREB-Binding ProteinIBA
6. Histone Acetyltransferases (Histone Acetyltransferase)IBA
7. Carrier Proteins (Binding Protein)IBA
01/01/2013 - "Novel cAMP binding protein-BP (CREBBP) mutation in a girl with Rubinstein-Taybi syndrome, GH deficiency, Arnold Chiari malformation and pituitary hypoplasia."
03/01/2012 - "Though loss of function in CBP/p300, a family of CREB-binding proteins, has been causally associated with a variety of human neurological disorders, such as Rubinstein-Taybi syndrome, Huntington's disease and drug addiction, the role of EP300 interacting inhibitor of differentiation 1 (EID1), a CBP/p300 inhibitory protein, in modulating neurological functions remains completely unknown. "
01/01/2012 - "Further investigation by high resolution array-based comparative genomic hybridization revealed a 120 kb microdeletion on chromosomal band 16 p13.3. A mutation or abnormality in the cyclic adenosine monophosphate-response element-binding protein has previously been determined as a cause of Rubinstein-Taybi syndrome. "
02/01/2010 - "Rubinstein-Taybi Syndrome (RSTS, OMIM 180849) is a rare condition, which in 65% of cases is caused by haploinsufficiency of CREBBP (cAMP response element binding protein binding protein) localized to 16p13.3. A small subset of RSTS cases caused by 16p13.3 microdeletions involving neighboring genes have been recently suggested to be a true contiguous gene syndrome called severe RSTS or 16p13.3 deletion syndrome (OMIM 610543). "
09/02/2003 - "Mice carrying a truncated form of cAMP-responsive element binding protein (CREB)-binding protein (CBP) show several developmental abnormalities similar to patients with Rubinstein-Taybi syndrome (RTS). "
8. Histones (Histone)IBA
12/12/2014 - "A point mutation in the p300 PHD finger that is related to the Rubinstein-Taybi syndrome resulted in increased self-acetylation but retained the ability to acetylate histones. "
01/01/2012 - "Histone acetylation deficits in lymphoblastoid cell lines from patients with Rubinstein-Taybi syndrome."
02/01/2008 - "Two major neuroprotective mechanisms of HDAC inhibitors have been identified, namely the transcriptional activation of disease-modifying genes and the correction of perturbations in histone acetylation homeostasis, which have been shown to be intimately involved in the neurodegenerative pathomechanisms of Huntington's, Parkinson's and Kennedy disease, amyotropic lateral sclerosis, Rubinstein-Taybi syndrome as well as stroke. "
05/01/2013 - "Also, genetic variants of chromatin remodeling proteins and histone tail modifiers are involved in genetic disorders like α thalassemia X-linked mental retardation syndrome, CHARGE syndrome, Cockayne syndrome, Rett syndrome, systemic lupus erythematous, Rubinstein-Taybi syndrome, Coffin-Lowry syndrome, Sotos syndrome, and facioescapulohumeral syndrome, among others. "
04/01/2013 - "Over the last decade it has become increasingly clear that mutations of genes involved in epigenetic mechanism, such as DNA methyltransferases, methyl-binding domain proteins, histone deacetylases, histone methylases and members of the SWI/SNF family of chromatin remodelers are linked to human disorders, including Immunodeficiency Centromeric instability Facial syndrome 1, Rett syndrome, Rubinstein-Taybi syndrome, Sotos syndrome or alpha-thalassemia/mental retardation X-linked syndrome, among others. "
9. Cyclic AMP Response Element-Binding Protein (Cyclic AMP-Responsive DNA-Binding Protein)IBA
10. ChromatinIBA

Therapies and Procedures

1. Laminectomy
2. Anesthesia
3. Osteotomy
4. Laparotomy
5. Skin Transplantation (Skin Grafting)