Smith-Magenis Syndrome malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Endocrine diseases, Fetal diseases
11Disease Ontology, 12diseasecard, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 26GTR, 29ICD10, 30ICD10 via Orphanet, 36MedGen, 39MESH via Orphanet, 47NIH Rare Diseases, 49Novoseek, 51OMIM, 53Orphanet, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot, 70Wikipedia
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Aliases & Descriptions for Smith-Magenis Syndrome:
Orphanet epidemiological data:53
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Endocrine diseases
ICD10: 30 29
Rare neurological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems. Most people with Smith-Magenis syndrome have a deletion of genetic material from a specific region of chromosome 17. Although this region contains multiple genes, researchers believe that the loss of one particular gene, RAI1, in each cell is responsible for most of the characteristic features of the condition. Smith-Magenis syndrome is not typically inherited, but results from a genetic change that occurs during the formation of reproductive cells (eggs or sperm) or in early fetal development. Last updated: 8/22/2014
MalaCards based summary: Smith-Magenis Syndrome, also known as sms, is related to spinocerebellar ataxia 17 and retinitis pigmentosa 17, and has symptoms including malar flattening, broad forehead and deeply set eye. An important gene associated with Smith-Magenis Syndrome is RAI1 (Retinoic Acid Induced 1), and among its related pathways is Glucose / Energy Metabolism. Affiliated tissues include heart, tongue and testes.
Disease Ontology:11 A chromosome deletion syndrome characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has material basis in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region.
Genetics Home Reference:25 Smith-Magenis syndrome is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, delayed speech and language skills, distinctive facial features, sleep disturbances, and behavioral problems.
UniProtKB/Swiss-Prot:69 Smith-Magenis syndrome: Characterized by congenital mental retardation associated with development and growth delays. Affected persons have characteristic behavioral abnormalities, including self-injurious behaviors and sleep disturbance, and distinct craniofacial and skeletal anomalies.
Description from OMIM:51 182290
GeneReviews for NBK1310
Human phenotypes related to Smith-Magenis Syndrome:63 53 (show all 99)
UMLS symptoms related to Smith-Magenis Syndrome:hoarseness, sleep disturbances
Drugs for Smith-Magenis Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 9)
Interventional clinical trials:
Search NIH Clinical Center for Smith-Magenis Syndrome
MalaCards organs/tissues related to Smith-Magenis Syndrome:35
Heart, Tongue, Testes, Kidney, Eye, Brain, B cells
Articles related to Smith-Magenis Syndrome:(show top 50) (show all 181)
Clinvar genetic disease variations for Smith-Magenis Syndrome:5 (show all 15)
Copy number variations for Smith-Magenis Syndrome from CNVD:6 (show all 17)
Search GEO for disease gene expression data for Smith-Magenis Syndrome.
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet