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

Drugs & Therapeutics for Smith Magenis Syndrome

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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
Smith-Magenis syndrome. (23622179)
2013
2
Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome. (21897445)
2012
3
Early behavioural manifestation of Smith-Magenis syndrome (del 17p11.2) in a 4-month-old boy. (22724898)
2012
4
Analysis of the sensory profile in children with Smith-Magenis syndrome. (21599572)
2012
5
Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. (21199049)
2011
6
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. (21965155)
2011
7
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. (21614983)
2011
8
Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. (21739587)
2011
9
Differential diagnosis of Smith-Magenis syndrome: 1p36 deletion syndrome. (21480478)
2011
10
Molecular analysis of the Retinoic Acid Induced 1 gene (RAI1) in patients with suspected Smith-Magenis syndrome without the 17p11.2 deletion. (21857958)
2011
11
Transmembrane activator and CAML interactor (TACI) haploinsufficiency results in B-cell dysfunction in patients with Smith-Magenis syndrome. (21514638)
2011
12
Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. (21124890)
2010
13
Pharmacological treatment of disruptive behavior in Smith-Magenis syndrome. (20981776)
2010
14
Sensory motor and functional skills of dizygotic twins: one with Smith-Magenis syndrome and a twin control. (19842854)
2009
15
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. (18373405)
2008
16
A case report of monozygotic twins with Smith-Magenis syndrome. (18301319)
2008
17
Smith-Magenis syndrome. (18231123)
2008
18
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (17539903)
2007
19
Smith-Magenis syndrome and Moyamoya disease in a patient with del(17)(p11.2p13.1). (17431895)
2007
20
Penetrance of craniofacial anomalies in mouse models of Smith-Magenis syndrome is modified by genomic sequence surrounding Rai1: not all null alleles are alike. (17273973)
2007
21
Genotype phenotype correlation of 30 patients with Smith-Magenis syndrome (SMS) using comparative genome hybridisation array: cleft palate in SMS is associated with larger deletions. (17468296)
2007
22
Craniofacial and dental phenotype of Smith-Magenis syndrome. (17001665)
2006
23
Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. (16939758)
2006
24
Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. (16890450)
2006
25
Adaptive and maladaptive behavior in children with Smith-Magenis Syndrome. (16570214)
2006
26
RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome. (17041942)
2006
27
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. (15788730)
2005
28
A 17p11.2 germline deletion in a patient with Smith-Magenis syndrome and neuroblastoma. (15635065)
2005
29
Polydactyly in a boy with Smith-Magenis syndrome. (16155420)
2005
30
Uncommon deletions of the Smith-Magenis syndrome region can be recurrent when alternate low-copy repeats act as homologous recombination substrates. (15148657)
2004
31
Communicative competence and behavioural phenotype in children with Smith-Magenis syndrome. (15517828)
2004
32
Smith-Magenis syndrome. (12975219)
2003
33
Smith-Magenis syndrome with bilateral vesicoureteral reflux: a case report. (12517050)
2002
34
beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome. (11546826)
2001
35
Prenatal diagnosis of smith-magenis syndrome (del 17p11.2). (11111213)
2000
36
Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. (10851253)
2000
37
Assignment of developmentally regulated GTP-binding protein (DRG2) to human chromosome band 17p11.2 with somatic cell hybrids and localization to the Smith-Magenis syndrome critical interval. (10828610)
2000
38
Hemizygosity for the COP9 signalosome subunit gene, SGN3, in the Smith-Magenis syndrome. (10588842)
1999
39
The Smith-Magenis syndrome: a new case with infant spasms. (10368569)
1999
40
Smith-Magenis syndrome and tetralogy of Fallot. (10874646)
1999
41
Subunit 3 of the COP9 signal transduction complex is conserved from plants to humans and maps within the Smith-Magenis syndrome critical region in 17p11.2. (10191102)
1999
42
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. (9557889)
1998
43
Gene for topoisomerase III maps within the Smith-Magenis syndrome critical region: analysis of cell-cycle distribution and radiation sensitivity. (9450867)
1998
44
Smith-Magenis syndrome. (9808923)
1998
45
Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al [1996]. (9375933)
1997
46
Definition of the critical interval for Smith-Magenis syndrome. (9605871)
1997
47
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? (8725788)
1996
48
Smith-Magenis Syndrome (20301487)
1993
49
Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. (8256814)
1993
50
Clinical and chromosome studies of three patients with Smith-Magenis syndrome. (2044854)
1991

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
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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