 Smith-Magenis Syndrome
"Smith-Magenis Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Complex neurobehavioral disorder characterized by distinctive facial features (FACIES), developmental delay and INTELLECTUAL DISABILITY. 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.
| Descriptor ID |
D058496
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| MeSH Number(s) |
C10.281.900 C16.131.077.879 C16.131.260.887 C16.320.180.887
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| Concept/Terms |
Smith-Magenis Syndrome- Smith-Magenis Syndrome
- Smith Magenis Syndrome
- Syndrome, Smith-Magenis
- Chromosome 17p11.2 Deletion Syndrome
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Below are MeSH descriptors whose meaning is more general than "Smith-Magenis Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Smith-Magenis Syndrome".
This graph shows the total number of publications written about "Smith-Magenis Syndrome" by people in this website by year, and whether "Smith-Magenis Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2010 | 0 | 1 | 1 | | 2011 | 1 | 0 | 1 | | 2016 | 1 | 0 | 1 |
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Below are the most recent publications written about "Smith-Magenis Syndrome" by people in Profiles.
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Huang WH, Guenthner CJ, Xu J, Nguyen T, Schwarz LA, Wilkinson AW, Gozani O, Chang HY, Shamloo M, Luo L. Molecular and Neural Functions of Rai1, the Causal Gene for Smith-Magenis Syndrome. Neuron. 2016 Oct 19; 92(2):392-406.
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Gulhan Ercan-Sencicek A, Davis Wright NR, Frost SJ, Fulbright RK, Felsenfeld S, Hart L, Landi N, Einar Mencl W, Sanders SJ, Pugh KR, State MW, Grigorenko EL. Searching for Potocki-Lupski syndrome phenotype: a patient with language impairment and no autism. Brain Dev. 2012 Sep; 34(8):700-3.
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Soler-Alfonso C, Motil KJ, Turk CL, Robbins-Furman P, Friedman EM, Zhang F, Lupski JR, Fraley JK, Potocki L. Potocki-Lupski syndrome: a microduplication syndrome associated with oropharyngeal dysphagia and failure to thrive. J Pediatr. 2011 Apr; 158(4):655-659.e2.
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