MCID: SMT008
MIFTS: 56

Smith-Magenis Syndrome malady

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

Summaries for Smith-Magenis Syndrome

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NIH Rare Diseases:41 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 smith magenis syndrome, is related to leukemia and snyder-robinson syndrome, 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). Affiliated tissues include kidney, eye and tongue, and related mouse phenotypes are skeleton and mortality/aging.

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:45 182290

GeneReviews summary for sms

Aliases & Classifications for Smith-Magenis Syndrome

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Sources:
45OMIM, 10diseasecard, 19GeneReviews, 41NIH Rare Diseases, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 60UMLS, 63Wikipedia, 20GeneTests, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Smith-Magenis Syndrome, Aliases & Descriptions:

Name: Smith-Magenis Syndrome 45 10 19 41 21 43 47 60
Smith Magenis Syndrome 63 20 22
Chromosome 17p Deletion Syndrome 21 60
17p11.2 Microdeletion 41 47
17p11.2 Monosomy 21 60
Sms 41 21
Chromosome 17p11.2 Deletion Syndrome 41
 
Deletion 17p Syndrome 21
Partial Monosomy 17p 21
Chromosome Deletion 60
17p- Syndrome 21
P11.2 19
Del 19
17 19


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
smith-magenis syndrome:
Inheritance: Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 182290
Orphanet47 819
MESH via Orphanet34 D058496
ICD10 via Orphanet26 Q93.5
UMLS via Orphanet61 C0795864

Related Diseases for Smith-Magenis Syndrome

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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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Symptoms by clinical synopsis from OMIM:

182290

Clinical features from OMIM:

182290

Symptoms:

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

HPO human phenotypes related to Smith-Magenis Syndrome:

(show all 115)
id Description Frequency HPO Source Accession
1 malar flattening hallmark (90%) HP:0000272
2 broad forehead hallmark (90%) HP:0000337
3 deeply set eye hallmark (90%) HP:0000490
4 upslanted palpebral fissure hallmark (90%) HP:0000582
5 synophrys hallmark (90%) HP:0000664
6 taurodontia hallmark (90%) HP:0000679
7 stereotypic behavior hallmark (90%) HP:0000733
8 brachydactyly syndrome hallmark (90%) HP:0001156
9 muscular hypotonia hallmark (90%) HP:0001252
10 reduced tendon reflexes hallmark (90%) HP:0001315
11 obesity hallmark (90%) HP:0001513
12 abnormality of the voice hallmark (90%) HP:0001608
13 frontal bossing hallmark (90%) HP:0002007
14 neurological speech impairment hallmark (90%) HP:0002167
15 sleep disturbance hallmark (90%) HP:0002360
16 depressed nasal bridge hallmark (90%) HP:0005280
17 attention deficit hyperactivity disorder hallmark (90%) HP:0007018
18 reduced number of teeth hallmark (90%) HP:0009804
19 tented upper lip vermilion hallmark (90%) HP:0010804
20 cognitive impairment hallmark (90%) HP:0100543
21 self-injurious behavior hallmark (90%) HP:0100716
22 large face hallmark (90%) HP:0100729
23 abnormality of the teeth common (75%) HP:0000164
24 brachycephaly common (75%) HP:0000248
25 malar flattening common (75%) HP:0000272
26 broad face common (75%) HP:0000283
27 mandibular prognathia common (75%) HP:0000303
28 deeply set eye common (75%) HP:0000490
29 stereotypic behavior common (75%) HP:0000733
30 self-mutilation common (75%) HP:0000742
31 delayed speech and language development common (75%) HP:0000750
32 brachydactyly syndrome common (75%) HP:0001156
33 broad palm common (75%) HP:0001169
34 global developmental delay common (75%) HP:0001263
35 hyporeflexia common (75%) HP:0001265
36 generalized hypotonia common (75%) HP:0001290
37 abnormality of the larynx common (75%) HP:0001600
38 hoarse voice common (75%) HP:0001609
39 sleep disturbance common (75%) HP:0002360
40 short palm common (75%) HP:0004279
41 morphological abnormality of the middle ear common (75%) HP:0008609
42 everted upper lip vermilion common (75%) HP:0010803
43 velopharyngeal insufficiency typical (50%) HP:0000220
44 abnormality of the outer ear typical (50%) HP:0000356
45 hearing impairment typical (50%) HP:0000365
46 wide nasal bridge typical (50%) HP:0000431
47 synophrys typical (50%) HP:0000664
48 hyperactivity typical (50%) HP:0000752
49 pes planus typical (50%) HP:0001763
50 constipation typical (50%) HP:0002019
51 ventriculomegaly typical (50%) HP:0002119
52 hypertriglyceridemia typical (50%) HP:0002155
53 eeg abnormality typical (50%) HP:0002353
54 scoliosis typical (50%) HP:0002650
55 hypercholesterolemia typical (50%) HP:0003124
56 short stature typical (50%) HP:0004322
57 abnormality of the tracheobronchial system typical (50%) HP:0005607
58 impaired pain sensation typical (50%) HP:0007328
59 hyperacusis typical (50%) HP:0010780
60 abnormality of the tongue typical (50%) HP:0000157
61 open mouth typical (50%) HP:0000194
62 mandibular prognathia typical (50%) HP:0000303
63 hypertelorism typical (50%) HP:0000316
64 short philtrum typical (50%) HP:0000322
65 micrognathia typical (50%) HP:0000347
66 otitis media typical (50%) HP:0000388
67 conductive hearing impairment typical (50%) HP:0000405
68 anteverted nares typical (50%) HP:0000463
69 microcornea typical (50%) HP:0000482
70 strabismus typical (50%) HP:0000486
71 myopia typical (50%) HP:0000545
72 gait disturbance typical (50%) HP:0001288
73 prenatal movement abnormality typical (50%) HP:0001557
74 toe syndactyly typical (50%) HP:0001770
75 malformation of the heart and great vessels typical (50%) HP:0002564
76 abnormality of lipid metabolism typical (50%) HP:0003119
77 short nose typical (50%) HP:0003196
78 abnormal form of the vertebral bodies typical (50%) HP:0003312
79 clinodactyly of the 5th finger typical (50%) HP:0004209
80 aplasia/hypoplasia of the corpus callosum typical (50%) HP:0007370
81 abnormality of the thyroid gland frequent (33%) HP:0000820
82 seizures frequent (33%) HP:0001250
83 malformation of the heart and great vessels frequent (33%) HP:0002564
84 abnormality of the immune system frequent (33%) HP:0002715
85 abnormality of the urinary system occasional (7.5%) HP:0000079
86 oral cleft occasional (7.5%) HP:0000202
87 retinal detachment occasional (7.5%) HP:0000541
88 abnormality of the forearm occasional (7.5%) HP:0002973
89 abnormality of the ureter occasional (7.5%) HP:0000069
90 abnormality of the genital system occasional (7.5%) HP:0000078
91 cleft palate occasional (7.5%) HP:0000175
92 cleft upper lip occasional (7.5%) HP:0000204
93 microcephaly occasional (7.5%) HP:0000252
94 hypothyroidism occasional (7.5%) HP:0000821
95 precocious puberty occasional (7.5%) HP:0000826
96 hand polydactyly occasional (7.5%) HP:0001161
97 seizures occasional (7.5%) HP:0001250
98 limitation of joint mobility occasional (7.5%) HP:0001376
99 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
100 abnormal localization of kidney occasional (7.5%) HP:0100542
101 stereotypic behavior HP:0000733
102 self-mutilation HP:0000742
103 hyperactivity HP:0000752
104 brachydactyly syndrome HP:0001156
105 intellectual disability HP:0001249
106 muscular hypotonia HP:0001252
107 hoarse voice HP:0001609
108 sleep disturbance HP:0002360
109 short stature HP:0004322
110 autosomal dominant inheritance HP:0000006
111 areflexia HP:0001284
112 sporadic HP:0003745
113 midface retrusion HP:0011800
114 head-banging HP:0012168
115 abnormal renal morphology HP:0012210

Drugs & Therapeutics for Smith-Magenis Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Smith-Magenis Syndrome

Genetic Tests for Smith-Magenis Syndrome

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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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MalaCards organs/tissues related to Smith-Magenis Syndrome:

31
Kidney, Eye, Tongue, Heart, Thyroid, Brain, B cells

Animal Models for Smith-Magenis Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Smith-Magenis Syndrome:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.9RAI1, LLGL1, SMS, ATPAF2, B9D1
2MP:00107688.5ATPAF2, TNFRSF13B, SHMT1, FLII, LLGL1, RAI1

Publications for Smith-Magenis Syndrome

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Articles related to Smith-Magenis Syndrome:

(show top 50)    (show all 163)
idTitleAuthorsYear
1
Abnormal brain magnetic resonance imaging in two patients with Smith-Magenis syndrome. (24788350)
2014
2
Circadian abnormalities in mouse models of Smith-Magenis syndrome: evidence for involvement of RAI1. (23703963)
2013
3
Siblings of individuals with Smith-Magenis syndrome: an investigation of the correlates of positive and negative behavioural traits. (22672270)
2012
4
RAI1 transcription factor activity is impaired in mutants associated with Smith-Magenis Syndrome. (23028815)
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
Diagnostic utility of daytime salivary melatonin levels in Smith-Magenis syndrome. (20034098)
2010
9
Smith-Magenis syndrome in Puerto Rico: a case report. (19954105)
2009
10
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCR. (18373405)
2008
11
A case report of monozygotic twins with Smith-Magenis syndrome. (18301319)
2008
12
Efficacy of risperidone treatment in Smith-Magenis syndrome (del 17 pll. 2). (17914318)
2007
13
Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases. (17539903)
2007
14
Monozygotic twins of Smith-Magenis syndrome. (17345621)
2007
15
Craniofacial and dental phenotype of Smith-Magenis syndrome. (17001665)
2006
16
Smith-Magenis syndrome: a case report of improved sleep after treatment with beta1-adrenergic antagonists and melatonin. (16939758)
2006
17
Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. (15746153)
2005
18
RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions. (15788730)
2005
19
Smith-Magenis syndrome and growth hormone deficiency. (15138811)
2004
20
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
21
Congenital heart defects associated with Smith-Magenis syndrome: two cases of total anomalous pulmonary venous return. (15384100)
2004
22
Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome. (15565467)
2004
23
Beta 1-adrenergic antagonists and melatonin reset the clock and restore sleep in a circadian disorder, Smith-Magenis syndrome. (12525548)
2003
24
Mutations in RAI1 associated with Smith-Magenis syndrome. (12652298)
2003
25
Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally? (12809645)
2003
26
Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. (11997338)
2002
27
Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome. (11246713)
2001
28
RAI1 is a novel polyglutamine encoding gene that is deleted in Smith- Magenis syndrome patients. (11404004)
2001
29
Prenatal diagnosis of smith-magenis syndrome (del 17p11.2). (11111213)
2000
30
Patient with large 17p11.2 deletion presenting with Smith-Magenis syndrome and Joubert syndrome phenotype. (11146468)
2000
31
Three young children with Smith-Magenis syndrome: their distinct, recognisable behavioural phenotype as the most important clinical symptoms. (10893661)
2000
32
Transcription mapping in a medulloblastoma breakpoint interval and Smith-Magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes. (10036180)
1999
33
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
34
Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). (9613860)
1998
35
Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). (9613859)
1998
36
Stress and coping in families of children with Smith-Magenis syndrome. (9828063)
1998
37
Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2. (9557889)
1998
38
Regarding the Smith-Magenis syndrome multidisciplinary clinical study by Greenberg et al [1996]. (9375933)
1997
39
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
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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Clinvar genetic disease variations for Smith-Magenis Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RAI1NM_030665.3(RAI1): c.2273G> A (p.Trp758Ter)single nucleotide variantPathogenicGRCh37Chr 17, 17698535: 17698535
2RAI1RAI1, 1-BP DEL, 4929CdeletionPathogenic
3RAI1RAI1, 1-BP DEL, 1308CdeletionPathogenic
4RAI1RAI1, 29-BP DELdeletionPathogenic
5RAI1NM_030665.3(RAI1): c.5423G> A (p.Ser1808Asn)single nucleotide variantPathogenicrs104894633GRCh37Chr 17, 17701685: 17701685
6RAI1NM_030665.3(RAI1): c.4685A> G (p.Gln1562Arg)single nucleotide variantPathogenicrs104894634GRCh37Chr 17, 17700947: 17700947
7RAI1RAI1, 1-BP DEL, 3801CdeletionPathogenic
8RAI1RAI1, 19-BP DELdeletionPathogenic

Expression for genes affiliated with Smith-Magenis Syndrome

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

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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Biological processes related to Smith-Magenis Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein targeting to membraneGO:00903149.7MIEF2, MIEF1
2positive regulation of mitochondrial fissionGO:00901419.6MIEF2, MIEF1
3mitochondrial fusionGO:00080539.4MIEF2, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet