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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:
Smith Magenis Syndrome; Syndrome, Smith-Magenis
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
2. Risperidone (Risperdal Consta)FDA LinkGeneric
3. Carbon MonoxideIBA
4. retinoic acid receptor alphaIBA
5. Tretinoin (Retinoic Acid)FDA LinkGeneric
6. Potocki-Lupski syndromeIBA
7. HormonesIBA
8. Growth Hormone (Somatotropin)IBA
9. DNA (Deoxyribonucleic Acid)IBA
10. Carrier Proteins (Binding Protein)IBA

Therapies and Procedures

1. Aftercare (After-Treatment)
2. Ligation
3. Renal Dialysis (Hemodialysis)
4. Drug Therapy (Chemotherapy)