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Disease Smith-Magenis Syndrome

Name Smith-Magenis Syndrome
Synonyms 17p11.2 Monosomy | Chromosome 17p11.2 Deletion Syndrome | CHROMOSOME 17p11.2 DELETION SYNDROME SMITH-MAGENIS SYNDROME CHROMOSOME REGION, INCLUDED | SMCR, INCLUDED | Smith Magenis Syndrome | SMS | Syndrome, Smith-Magenis
Definition 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.
Categories Congenital abnormality | Genetic disease (inborn) | Nervous system disease
MeSH® ID D058496
OMIM® ID 182290

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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Chronobiology Disorders Has associated chemicals Has associated genes Smith-Magenis Syndrome Has associated chemicals Has associated genes
2. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Abnormalities, Multiple Has associated chemicals Has associated genes Smith-Magenis Syndrome Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Smith-Magenis Syndrome Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Chromosome Disorders Has associated chemicals Has associated genes Smith-Magenis Syndrome Has associated chemicals Has associated genes

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Smith-Magenis Syndrome Has associated chemicals Has associated genes
View node Chromosome 17 deletion Has associated chemicals Has associated genes