Smith-Magenis Syndrome

Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and mental retardation. Behavioral phenotypes include sleep disturbance, maladaptive, self-injurious and attention-seeking behaviors. The sleep disturbance is linked to an abnormal circadian secretion pattern of MELATONIN. The syndrome is associated with de novo deletion or mutation and HAPLOINSUFFICIENCY of the retinoic acid-induced 1 protein on chromosome 17p11.2.

Also Known As:

Networked: 75 relevant articles (2 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Mental Retardation (Idiocy)
2.	Neoplasms (Cancer)
3.	Breast Neoplasms (Breast Cancer)
4.	Classical Lissencephalies and Subcortical Band Heterotopias
5.	Williams Syndrome (Williams-Beuren Syndrome)

Experts

1.	Elsea, Sarah H: 11 articles (01/2015 - 11/2006)
2.	Lupski, James R: 9 articles (11/2012 - 11/2003)
3.	Smith, Ann C M: 8 articles (11/2014 - 05/2006)
4.	Girirajan, Santhosh: 8 articles (10/2010 - 11/2006)
5.	De Leersnyder, H: 5 articles (01/2013 - 07/2001)
6.	Potocki, Lorraine: 5 articles (08/2011 - 11/2003)
7.	Bi, Weimin: 4 articles (04/2007 - 04/2005)
8.	Munnich, A: 4 articles (11/2003 - 07/2001)
9.	Vilboux, Thierry: 3 articles (11/2014 - 01/2011)
10.	Walz, Katherina: 3 articles (01/2012 - 11/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Smith-Magenis Syndrome:

1.	MelatoninIBA 09/01/2006 - "This report describes the case of a 4-year-old boy diagnosed with Smith-Magenis syndrome in whom treatment with a beta(1)-adrenergic antagonist in the morning (to suppress the diurnal melatonin secretion) and melatonin in the evening (to generate a nocturnal peak of melatonin) improved his sleep quality, evaluated by polysomnographic studies." 01/12/2015 - "Melatonin secretion is usually increased during the daytime and decreased at night in Smith-Magenis syndrome (SMS) and consequently is not a pertinent marker of the circadian phase of the clock in these cases. " 02/01/2012 - "Smith-Magenis syndrome (SMS) is associated with sleep disturbances and disrupted melatonin production. " 08/01/2011 - "Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations." 01/01/2010 - "An inverted circadian rhythm of melatonin (MT) likely contributes to the sleep disturbance in patients with Smith-Magenis syndrome (SMS). "
2.	Risperidone (Risperdal Consta)FDA LinkGeneric 09/01/2007 - "Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. "
3.	Carbon MonoxideIBA 11/01/2011 - "This study is a neuropsycholinguistic research of a rare genetic syndrome with microdeletion that co-occurs with intellectual disabilities and relatively good language abilities, the Smith-Magenis Syndrome (SMS). " 02/15/2012 - "These results indicate that the transcriptional co-regulator SPBP and its homologue RAI1 implicated in Smith-Magenis syndrome and Potocki-Lupski syndrome both belong to the expanding family of chromatin-binding proteins containing several domains involved in specific chromatin interactions."
4.	retinoic acid receptor alphaIBA 11/01/2011 - "In all, 171 patients with breast cancer who had HER2 FISH that had increased mean CEP17 copy numbers (> 2.6) were selected for additional chromosome 17 studies that used probes for Smith-Magenis syndrome (SMS), retinoic acid receptor alpha (RARA), and tumor protein p53 (TP53) genes. "
5.	Tretinoin (Retinoic Acid)FDA LinkGeneric 01/01/2012 - "Smith-Magenis Syndrome (SMS) is a complex genomic disorder mostly caused by the haploinsufficiency of the Retinoic Acid Induced 1 gene (RAI1), located in the chromosomal region 17p11.2. In a subset of SMS patients, heterozygous mutations in RAI1 are found. " 01/01/2011 - "Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion." 10/15/2010 - "Smith-Magenis syndrome (SMS) is a genetic disorder caused by haploinsufficiency of the retinoic acid induced 1 (RAI1) gene. " 04/01/2010 - "Smith-Magenis syndrome (SMS) is caused by del(17)(p11.2), including the retinoic acid induced 1 gene (RAI1), or mutation of RAI1. " 01/01/2010 - "Smith-Magenis Syndrome is a contiguous gene syndrome in which the dosage sensitive gene has been identified: the Retinoic Acid Induced 1 (RAI1). "
6.	Potocki-Lupski syndromeIBA 01/01/2015 - "Copy number loss of RAI1 results in Smith-Magenis syndrome while copy number gain results in Potocki-Lupski syndrome. " 12/01/2012 - "In this paper, we report on the clinical and cytogenetic features of two Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. " 12/01/2012 - "Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is a reciprocal disease of Smith-Magenis syndrome. " 12/01/2012 - "Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. " 12/01/2012 - "Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome."
7.	HormonesIBA 09/01/2001 - "Smith-Magenis syndrome (SMS) is a clinically recognisable contiguous gene syndrome ascribed to interstitial deletions of chromosome 17p11.2. Patients have a phase shift of their circadian rhythm of melatonin with a paradoxical diurnal secretion of the hormone. " 01/01/2013 - "Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptive daytime behavior have been linked to an abnormal circadian rhythm of melatonin with a diurnal instead of nocturnal secretion of this hormone. " 09/01/2006 - "Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. Severe sleep disturbances and maladaptative daytime behavior have been linked to an abnormal circadian secretion pattern of melatonin, with a diurnal instead of nocturnal secretion of this hormone. "
8.	Growth Hormone (Somatotropin)IBA 10/01/2004 - "Systemic growth hormone corrects sleep disturbance in Smith-Magenis syndrome." 07/01/2004 - "we suggest that an investigation of both growth hormone secretion and function is carried out in patients with Smith-Magenis syndrome and 17p11.2 deletion." 07/01/2004 - "Smith-Magenis syndrome and growth hormone deficiency."
9.	DNA (Deoxyribonucleic Acid)IBA 12/03/1999 - "Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation syndrome associated with an interstitial deletion of chromosome band 17p11.2. The critical region is extremely gene-rich and spans approximately 1.5-2.0 Mb of DNA. " 01/01/2010 - "We recruited 47 DNA samples corresponding to pathologies with significant frequencies (Cri du Chat syndrome, Williams syndrome, Prader Willi/Angelman syndromes, Smith-Magenis syndrome, DiGeorge syndrome, Miller-Dieker syndrome, chromosomes 13, 18 and 21 trisomies). "
10.	Carrier Proteins (Binding Protein)IBA 02/15/2012 - "These results indicate that the transcriptional co-regulator SPBP and its homologue RAI1 implicated in Smith-Magenis syndrome and Potocki-Lupski syndrome both belong to the expanding family of chromatin-binding proteins containing several domains involved in specific chromatin interactions." 01/01/2011 - "Six of the seven genes were identified, CSNK1E (casein kinase 1 epsilon), DGCR8 (Di George syndrome critical region 8), GGA1 (Golgi associated gamma adaptin ear containing ARF binding protein 1), MAPK11 (mitogen activated protein kinase 11), SMCR7L (Smith-Magenis syndrome chromosome region candidate 7-like), andTBC1D22A (TBC1 domain family member 22A). "

Therapies and Procedures

1.	Aftercare (After-Treatment) 09/01/2006 - "Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin."
2.	Ligation 02/01/2009 - "Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. "
3.	Renal Dialysis (Hemodialysis) 01/01/2010 - "The conclusion of the current review is that the use of melatonin as an adjuvant therapy seems to be well funded for macular degeneration, glaucoma, protection of the gastric mucosa, irritable bowel syndrome, arterial hypertension, diabetes, side effects of chemotherapy and radiation in cancer patients or hemodialysis in patients with renal insufficiency and, especially, for sleep disorders of circadian etiology (jet lag, delayed sleep phase syndrome, sleep deterioration associated with aging, etc.) as well as in those related with neurological degenerative diseases (Alzheimer, etc.,) or Smith-Magenis syndrome. "
4.	Drug Therapy (Chemotherapy) 01/01/2010 - "The conclusion of the current review is that the use of melatonin as an adjuvant therapy seems to be well funded for macular degeneration, glaucoma, protection of the gastric mucosa, irritable bowel syndrome, arterial hypertension, diabetes, side effects of chemotherapy and radiation in cancer patients or hemodialysis in patients with renal insufficiency and, especially, for sleep disorders of circadian etiology (jet lag, delayed sleep phase syndrome, sleep deterioration associated with aging, etc.) as well as in those related with neurological degenerative diseases (Alzheimer, etc.,) or Smith-Magenis syndrome. "