17
MCID: SMT015
MIFTS: 62

Smith Magenis Syndrome (17) malady

Neuronal diseases, Fetal diseases categories

Summaries for Smith Magenis Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 46OMIM, 19GeneReviews, 32MalaCards
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NIH Rare Diseases:42 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: 2/15/2012

MalaCards: Smith Magenis Syndrome, also known as smith-magenis syndrome, is related to leukemia and adult syndrome, and has symptoms including upper limb polydactyly/hexadactyly, broad forehead and myopia. An important gene associated with Smith Magenis Syndrome is RAI1 (retinoic acid induced 1). Affiliated tissues include kidney, eye and tongue.

Genetics Home Reference:21 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.

Description from OMIM:46 182290

GeneReviews summary for sms

Aliases & Classifications for Smith Magenis Syndrome

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Sources:
63Wikipedia, 19GeneReviews, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
smith-magenis syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

smith magenis syndrome 63
smith-magenis syndrome 19 42 20 22 21 46 44 48 60
sms 42 21
chromosome 17p11.2 deletion syndrome 42
chromosome 17p deletion syndrome 21
gene deletion abnormality 60
deletion 17p syndrome 21
17p11.2 microdeletion 48
partial monosomy 17p 21
chromosome deletion 60
17p11.2 monosomy 21
17p- syndrome 21
p11.2 19
del 19
17 19


External Ids:

OMIM46 182290
MESH via Orphanet35 D058496
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet57 401315004
UMLS via Orphanet61 C0795864

Related Diseases for Smith Magenis Syndrome

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Smith Magenis Syndrome:



Diseases related to smith magenis syndrome

Clinical Features for Smith Magenis Syndrome

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46OMIM, 48Orphanet
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Clinical features from OMIM:

182290

Clinical synopsis from OMIM:

182290

Symptoms:

48 (show all 72)
  • upper limb polydactyly/hexadactyly
  • broad forehead
  • myopia
  • short philtrum
  • clinodactyly of fifth finger
  • retinal detachment
  • dilated cerebral ventricles without hydrocephaly
  • areflexia/hyporeflexia
  • hyperactivity/attention deficit
  • insterstitial/subtelomeric microdeletion/deletion
  • strabismus/squint
  • short hand/brachydactyly
  • congenital cardiac anomaly/malformation/cardiopathy
  • peripheral neuropathy
  • ectopic/horseshoe/fused kidneys
  • agenesis/hypoplasia/aplasia of kidneys
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • mouth held open
  • respiratory-digestive intersection/aero-digestive cross-roads anomaly
  • ureter/calyx/pelvis duplication/bifid/retrocava/retroiliac ureter
  • microcornea
  • cleft lip
  • synophris/synophrys
  • syndactyly of toes
  • tented upper lip
  • fetal immobility/abnormal fetal movements
  • hyperacusia
  • anodontia/oligodontia/hypodontia
  • taurodontia
  • deepset eyes/enophthalmos
  • insensitivity to pain
  • conductive deafness/hearing loss
  • micrognathia/retrognathia/micrognathism/retrognathism
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • hypotonia
  • precocious puberty
  • hypothyroidy
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • abnormal gait
  • constipation
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • sleep and vigilance disorders
  • seizures/epilepsy/absences/spasms/status epilepticus
  • eeg anomalies
  • scoliosis
  • large face
  • generalized obesity
  • corpus callosum/septum pellucidum total/partial agenesis
  • hypertelorism
  • auto-aggressivity/auto-mutilation
  • depressed nasal bridge
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • mid-facial hypoplasia/short/small midface
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • brachycephaly/flat occiput
  • abnormal cry/voice/phonation disorder/nasal speech
  • tics/stereotypias
  • late puberty/hypogonadism/hypogenitalism
  • gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia
  • microcephaly
  • short stature/dwarfism/nanism
  • anteverted nares/nostrils
  • restricted joint mobility/joint stiffness/ankylosis
  • flat foot
  • abnormal vertebral size/shape
  • short/small nose
  • broad nose/nasal bridge
  • prognathism/prognathia
  • chronic/relapsing otitis
  • frontal bossing/prominent forehead

Drugs & Therapeutics for Smith Magenis Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Smith Magenis Syndrome

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20GeneTests, 22GTR
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Genetic tests related to Smith Magenis Syndrome:

id Genetic test Affiliating Genes
1 Smith-Magenis Syndrome20 22 RAI1

Anatomical Context for Smith Magenis Syndrome

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32MalaCards
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MalaCards organs/tissues related to Smith Magenis Syndrome:

32
Kidney, Eye, Tongue, Heart, Brain, B cells

Animal Models for Smith Magenis Syndrome or affiliated genes

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Publications for Smith Magenis Syndrome

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50PubMed
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Articles related to Smith Magenis Syndrome:

(show top 50)    (show all 160)
idTitleAuthorsYear
1
Daytime somnolence in an adult with Smith-Magenis syndrome. (23687097)
2013
2
The nature of social preference and interactions in Smith-Magenis syndrome. (24120292)
2013
3
Callosotomy in a girl with refractory epilepsy and Smith-Magenis syndrome. (24032296)
2013
4
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. (22672270)
2012
5
Smith-Magenis syndrome results in disruption of CLOCK gene transcription and reveals an integral role for RAI1 in the maintenance of circadian rhythmicity. (22578325)
2012
6
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. (22911601)
2012
7
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. (22057962)
2011
8
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. (20932317)
2010
9
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). (20186811)
2010
10
Caring for the caregivers: an investigation of factors related to well-being among parents caring for a child with Smith-Magenis syndrome. (20151318)
2010
11
Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome. (20738874)
2010
12
Smith-Magenis syndrome in Puerto Rico: a case report. (19954105)
2009
13
Neurodevelopment of children under 3 years of age with Smith-Magenis syndrome. (19748044)
2009
14
Mood disorder in a patient with Smith-Magenis syndrome: a case report. (17277733)
2007
15
New developments in Smith-Magenis syndrome (del 17p11.2). (17351481)
2007
16
An individual with Gilles de la Tourette syndrome and Smith-Magenis microdeletion syndrome: is chromosome 17p11.2 a candidate region for Tourette syndrome putative susceptibility genes? (17598875)
2007
17
Stroke after cardiac surgery in a patient with Smith-Magenis syndrome. (17622381)
2007
18
Epilepsy and chromosomal rearrangements in Smith-Magenis Syndrome [del(17)(p11.2p11.2)]. (16566870)
2006
19
Cognitive and adaptive behavior profiles in Smith-Magenis syndrome. (16775514)
2006
20
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. (16845274)
2006
21
Melatonin treatment in Smith Magenis syndrome. (16408422)
2005
22
Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to approximately 650 kb. (16179224)
2005
23
Overview of Smith-Magenis syndrome. (16354942)
2005
24
Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome. (15459175)
2004
25
Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. (15384100)
2004
26
Systemic growth hormone corrects sleep disturbance in Smith-Magenis syndrome. (15351087)
2004
27
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? (12809645)
2003
28
Smith-Magenis syndrome and cyanotic congenital heart disease: a case report. (12514371)
2003
29
Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)]. (14614393)
2003
30
Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. (11997339)
2002
31
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. (11246713)
2001
32
Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. (11840190)
2001
33
Novel mutations of MYO15A associated with profound deafness in consanguineous families and moderately severe hearing loss in a patient with Smith-Magenis syndrome. (11735029)
2001
34
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
35
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (10036180)
1999
36
A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del17p11.2p11.2). (10049592)
1999
37
The face of Smith-Magenis syndrome: a subjective and objective study. (10353786)
1999
38
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
39
Stress and coping in families of children with Smith-Magenis syndrome. (9828063)
1998
40
Visual impairment due to macular disciform scars in a 20-year-old man with Smith-Magenis syndrome: another opthalmologic complication. (9856566)
1998
41
Distinctiveness and correlates of maladaptive behaviour in children and adolescents with Smith-Magenis syndrome. (10030444)
1998
42
Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation. (9084941)
1997
43
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. (8651284)
1996
44
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. (8958329)
1996
45
Brown's syndrome associated with Smith-Magenis syndrome: Case report. (21314509)
1996
46
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. (8533833)
1995
47
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. (8599375)
1995
48
Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome) (8116679)
1994
49
Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome. (8401506)
1993
50
Five cases demonstrating the distinctive behavioural features of chromosome deletion 17(p11.2 p11.2) (Smith-Magenis syndrome). (2331413)
1990

Genetic Variations for Smith Magenis Syndrome

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Expression for genes affiliated with Smith Magenis Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Smith Magenis Syndrome

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Pathways for genes affiliated with Smith Magenis Syndrome

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Compounds for genes affiliated with Smith Magenis Syndrome

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GO Terms for genes affiliated with Smith Magenis Syndrome

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16Gene Ontology
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Biological processes related to Smith Magenis Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein targeting to membraneGO:09031410.4MIEF2, MIEF1
2positive regulation of mitochondrial fissionGO:09014110.3MIEF2, MIEF1
3mitochondrial fusionGO:00805310.1MIEF2, MIEF1

Products for genes affiliated with Smith Magenis Syndrome

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Sources for Smith Magenis Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet