17
MCID: SMT015
MIFTS: 58

Smith Magenis Syndrome (17) malady

Neuronal, Fetal categories

Summaries for Smith Magenis Syndrome

Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 47OMIM, 19GeneReviews, 33MalaCards
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NIH Rare Diseases:43 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 somatostatin analog and spinocerebellar ataxia, and has symptoms including frontal bossing/prominent forehead, hypertelorism and corpus callosum/septum pellucidum total/partial agenesis. An important gene associated with Smith Magenis Syndrome is RAI1 (retinoic acid induced 1). Affiliated tissues include brain, heart and b cells.

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:47 182290

GeneReviews summary for sms

Aliases & Classifications for Smith Magenis Syndrome

Sources:
64Wikipedia, 19GeneReviews, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

49
smith-magenis syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

smith magenis syndrome 64
smith-magenis syndrome 19 43 20 22 21 47 45 49 61
sms 43 21
chromosome 17p11.2 deletion syndrome 43
chromosome 17p deletion syndrome 21
gene deletion abnormality 61
17p11.2 microdeletion 49
deletion 17p syndrome 21
partial monosomy 17p 21
chromosome deletion 61
17p11.2 monosomy 21
17p- syndrome 21
p11.2 19
del 19
17 19


External Ids:

OMIM47 182290
MESH via Orphanet36 D058496
ICD10 via Orphanet26 Q87.8
SNOMED-CT via Orphanet58 401315004
UMLS via Orphanet62 C0795864

Related Diseases for Smith Magenis Syndrome

Sources:
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

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

182290

Clinical synopsis from OMIM:

182290

Symptoms:

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

Drugs & Therapeutics for Smith Magenis Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Smith Magenis Syndrome

Search CenterWatch for Smith Magenis Syndrome

Genetic Tests for Smith Magenis Syndrome

Sources:
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

Sources:
33MalaCards
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MalaCards organs/tissues related to Smith Magenis Syndrome:

33
Brain, Heart, B cells

Animal Models for Smith Magenis Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Smith Magenis Syndrome

Sources:
51PubMed
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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
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. (23028815)
2012
4
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome. (23255863)
2012
5
Cognitive functioning in children and adults with Smith-Magenis syndrome. (22579991)
2012
6
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
7
Alteration of the circadian clock in children with Smith-Magenis syndrome. (22162479)
2012
8
Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China. (22911601)
2012
9
Smith-Magenis syndrome: clinical evaluation in seven Brazilian patients. (22057962)
2011
10
Commentary: Recognizing syndromes with overlapping features: How difficult is it? Considerations generated by the article on differential diagnosis of Smith-Magenis syndrome by Vieira and colleagues. (21465657)
2011
11
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. (20034098)
2010
12
Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature. (20932317)
2010
13
Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome). (20186811)
2010
14
Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report. (20181043)
2010
15
Autism spectrum features in Smith-Magenis syndrome. (20981775)
2010
16
Smith-Magenis syndrome with West syndrome in a 5-year-old girl: a long-term follow-up study. (19264735)
2009
17
Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion. (19530184)
2009
18
The behavioural phenotype of Smith-Magenis syndrome: evidence for a gene-environment interaction. (18466291)
2008
19
Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). (17914318)
2007
20
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
21
Stroke after cardiac surgery in a patient with Smith-Magenis syndrome. (17622381)
2007
22
Circadian rhythm disorder in a rare disease: Smith-Magenis syndrome. (16723183)
2006
23
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum. (16845274)
2006
24
Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2). (16647992)
2006
25
Diagnostic FISH probes for del(17)(p11.2p11.2) associated with Smith-Magenis syndrome should contain the RAI1 gene. (15690371)
2005
26
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
27
The neuropsychiatry and multisystem features of the Smith-Magenis syndrome: a review. (15746488)
2005
28
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
29
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
30
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? (12809645)
2003
31
Smith-Magenis syndrome and cyanotic congenital heart disease: a case report. (12514371)
2003
32
The hand in Smith-Magenis syndrome (deletion 17p11.2): evaluation by metacarpophalangeal pattern profile analysis. (12612815)
2003
33
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (11997338)
2002
34
Hypercholesterolemia in children with Smith-Magenis syndrome: del (17) (p11.2p11.2). (12180145)
2002
35
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (11404004)
2001
36
Abilities and attainment in Smith-Magenis syndrome. (11769269)
2001
37
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
38
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. (10893661)
2000
39
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
40
Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients. (8651284)
1996
41
Ophthalmic manifestations of Smith-Magenis syndrome. (8684798)
1996
42
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. (8533763)
1995
43
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (7633408)
1995
44
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. (8599375)
1995
45
Smith-Magenis syndrome; Report of two cases and review of the literature. (17586958)
1994
46
Prenatal diagnosis of interstitial deletion of 17(p11.2p11.2) (Smith-Magenis syndrome) (8116679)
1994
47
Constitutional interstitial deletion of 17(p11.2) (Smith-Magenis syndrome): a clinically recognizable microdeletion syndrome. Report of two cases and review of the literature. (8350589)
1993
48
Mosaicism for deletion 17p11.2 in a boy with the Smith-Magenis syndrome. (8465848)
1993
49
Confirmation of a particular but nonspecific metacarpophalangeal pattern profile in patients with the Smith-Magenis syndrome due to interstitial deletion of 17p. (8465846)
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

Expression for genes affiliated with Smith Magenis Syndrome

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

Search GEO for disease gene expression data for Smith Magenis Syndrome.

Pathways for genes affiliated with Smith Magenis Syndrome

Compounds for genes affiliated with Smith Magenis Syndrome

GO Terms for genes affiliated with Smith Magenis Syndrome

Sources:
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

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet