17
MCID: SMT015
MIFTS: 56

Smith Magenis Syndrome (17) malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases categories

Summaries for Smith Magenis Syndrome

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44NIH Rare Diseases, 22Genetics Home Reference, 48OMIM, 20GeneReviews, 34MalaCards
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NIH Rare Diseases:44 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 syndromeĀ is notĀ typically inherited, butĀ 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 somatostatin analog, 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:22 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:48 182290

GeneReviews summary for sms

Aliases & Classifications for Smith Magenis Syndrome

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66Wikipedia, 20GeneReviews, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 46Novoseek, 50Orphanet, 63UMLS, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
smith-magenis syndrome:
Inheritance: Sporadic; Prevalence: 1-9/100000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

smith magenis syndrome 66
smith-magenis syndrome 20 44 21 23 22 48 46 50 63
sms 44 22
chromosome 17p11.2 deletion syndrome 44
chromosome 17p deletion syndrome 22
gene deletion abnormality 63
deletion 17p syndrome 22
17p11.2 microdeletion 50
partial monosomy 17p 22
chromosome deletion 63
17p11.2 monosomy 22
17p- syndrome 22
p11.2 20
del 20
17 20


External Ids:

OMIM48 182290
MESH via Orphanet37 D058496
ICD10 via Orphanet27 Q93.5
SNOMED-CT via Orphanet60 401315004
UMLS via Orphanet64 C0795864

Related Diseases for Smith Magenis Syndrome

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18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Smith Magenis Syndrome:



Diseases related to smith magenis syndrome

Symptoms for Smith Magenis Syndrome

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

182290

Clinical features from OMIM:

182290

Symptoms:

50 (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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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Genetic Tests for Smith Magenis Syndrome

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21GeneTests, 23GTR
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Genetic tests related to Smith Magenis Syndrome:

id Genetic test Affiliating Genes
1 Smith-Magenis Syndrome21 23 RAI1

Anatomical Context for Smith Magenis Syndrome

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34MalaCards
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MalaCards organs/tissues related to Smith Magenis Syndrome:

34
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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53PubMed
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Articles related to Smith Magenis Syndrome:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. (23703963)
2013
2
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. (22672270)
2012
3
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. (23028815)
2012
4
Prevalence, phenomenology, aetiology and predictors of challenging behaviour in Smith-Magenis syndrome. (21199049)
2011
5
Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2. (21965155)
2011
6
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome. (21614983)
2011
7
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. (20034098)
2010
8
Smith-Magenis syndrome in Puerto Rico: a case report. (19954105)
2009
9
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. (18373405)
2008
10
A case report of monozygotic twins with Smith-Magenis syndrome. (18301319)
2008
11
Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). (17914318)
2007
12
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (17539903)
2007
13
Monozygotic twins of Smith-Magenis syndrome. (17345621)
2007
14
Craniofacial and dental phenotype of Smith-Magenis syndrome. (17001665)
2006
15
Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. (16939758)
2006
16
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. (15746153)
2005
17
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. (15788730)
2005
18
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
19
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
20
Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. (15384100)
2004
21
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. (15565467)
2004
22
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. (12525548)
2003
23
Mutations in RAI1 associated with Smith-Magenis syndrome. (12652298)
2003
24
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? (12809645)
2003
25
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (11997338)
2002
26
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. (11246713)
2001
27
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (11404004)
2001
28
Prenatal diagnosis of smith-magenis syndrome (del 17p11.2). (11111213)
2000
29
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
30
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. (10893661)
2000
31
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (10036180)
1999
32
Molecular cloning, localization, and developmental expression of mouse brain finger protein (Bfp)/ZNF179: distribution of bfp mRNA partially coincides with the affected areas of Smith-Magenis syndrome. (9806830)
1998
33
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). (9613860)
1998
34
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
35
Stress and coping in families of children with Smith-Magenis syndrome. (9828063)
1998
36
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. (9557889)
1998
37
Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al [1996]. (9375933)
1997
38
The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2. (9096764)
1997
39
Chromosome deletion 17p11.2 (Smith-Magenis syndrome) in seven new patients, four of whom had been referred for fragile-X investigation. (9084941)
1997
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
The human homologue of the murine Llglh gene (LLGL) maps within the Smith-Magenis syndrome region in 17p11.2. (8565641)
1996
43
Mosaicism for del(17)(p11.2p11.2) underlying the Smith-Magenis syndrome. (8958329)
1996
44
Two patients with duplication of 17p11.2: the reciprocal of the Smith-Magenis syndrome deletion? (8725788)
1996
45
Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2) (8882782)
1996
46
Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome. (8533763)
1995
47
Smith-Magenis syndrome deletion: a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization. (8533833)
1995
48
The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients. (7633408)
1995
49
Apparent mosaicism for del(17)(p11.2) ruled out by fluorescence in situ hybridization in a Smith-Magenis syndrome patient. (8599375)
1995
50
Smith-Magenis Syndrome (20301487)
1993

Variations for Smith Magenis Syndrome

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Smith Magenis Syndrome:

1
id Gene Name Type Significance SNP ID Assembly Location
1RAI1RAI1, 1-BP DEL, 4929CdeletionPathogenic/card/smith_magenis_syndrome_2
2RAI1RAI1, 1-BP DEL, 1308CdeletionPathogenic/card/smith_magenis_syndrome_2
3RAI1RAI1, 29-BP DELdeletionPathogenic/card/smith_magenis_syndrome_2
4RAI1NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn)single nucleotide variantPathogenicrs104894633GRCh37Chr 17, 17701685: 17701685
5RAI1NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg)single nucleotide variantPathogenicrs104894634GRCh37Chr 17, 17700947: 17700947
6RAI1RAI1, 1-BP DEL, 3801CdeletionPathogenic
7RAI1RAI1, 19-BP DELdeletionPathogenic

Expression for genes affiliated with Smith Magenis Syndrome

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2BioGPS, 16Gene 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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Products for genes affiliated with Smith Magenis Syndrome

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Sources for Smith Magenis Syndrome

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4CDC
14ExPASy
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23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet